What is the name of early aging disease? Child or old man? Progeria - a mysterious genetic defect

Progeria(Greek progērōs prematurely aged) - pathological condition, characterized by a complex of skin changes, internal organs caused by premature aging of the body. The main forms are childhood progeria (Hutchinson-Gilford syndrome) and adult progeria (Werner syndrome).

Childhood progeria is very rare. The etiology and pathogenesis are unknown. In most cases, it occurs sporadically, in several families it is registered in siblings, incl. from consanguineous marriages, which indicates the possibility of an autosomal recessive type of inheritance.

Impairments in DNA repair and fibroblast cloning were found in the skin cells of patients, as well as atrophic changes epidermis and dermis, disappearance subcutaneous tissue. Although childhood P. may be congenital, in most patients clinical signs usually appear in the 2-3rd year of life.

The child's growth slows down sharply, atrophic changes in the dermis and subcutaneous tissue are noted, especially on the face and limbs. The skin becomes thinner, becomes dry, wrinkled, and there may be scleroderma-like lesions and areas of hyperpigmentation on the body. Veins are visible through thin skin. Appearance of the patient: big head, frontal tubercles protrude above a small, pointed (“bird-like”) face with a beak-like nose, lower jaw underdeveloped.

Muscle atrophy and degenerative processes in teeth, hair and nails are also observed; changes in the osteoarticular apparatus, myocardium, hypoplasia of the genital organs, disturbance fat metabolism, lens opacification, atherosclerosis.

Lena ages five years in a year

Yesterday at a Moscow clinic, doctors performed the first operation on a patient suffering from the syndrome premature aging.

At first, my earlobes began to sag strangely. Then I noticed amazingly deep wrinkles between my eyebrows,” says the 23-year-old girl.

When you first look at Lena Melnikova, you even begin to doubt. Well, how is this a cunning, bored 40-50 year old lady who desires wide fame and plastic surgery at the best surgeons?! Unfortunately, this has already happened.

This is what she looks like now at 23 years old

About personal life I don’t even dare to ask Lena... Although the girl smiles courageously:

Everything is fine.

Lena has practically no chance. Diagnosis: “premature aging syndrome” (“progeria”). Medical luminaries around the world say that from the moment of illness, people live on average only 13 years. And no one knows how to restore youth or at least calm down old age...

Lena began to experience terrible symptoms five years ago. First, the face aged, and then the skin of the whole body. Elena was then a first-year student at the Mari Polytechnic Institute.

You know, how offensive it was... Guys come up to meet my friend and treat me with emphatic politeness, mistaking me for my mother. They almost asked permission to meet with their “daughter.”

After graduating from the Mari Polytechnic University, the girl decided to have plastic surgery. But banal circular lift facial skin did not help. She only left scars on her neck and temples. The mysterious process of aging of the body continued. Local doctors were able to advise Elena only one thing - take vitamins and be constantly monitored.

The girl - by the way, a certified engineer-architect - did not despair and went to Moscow. Melnikova became interested in an expensive metropolitan clinic plastic surgery"Beauty Plaza". Its specialists decided to help the provincial woman in trouble. And completely free.

We decided to try it. If it is generally accepted that nothing can be done, then you need to at least try,” said the clinic’s leading surgeon, Dr. medical sciences Professor Alexander TEPLYASHIN. - Although it is not safe to operate on Elena, because the disease could also affect the condition of the internal organs.

She's so young! She needs to live normally, communicate with young people. First, we’ll make a face, and then we’ll start fighting the disease at the genetic level,” Professor Teplyashin is determined.

“I really trust the professor,” Elena Melnikova persistently convinces us. It looks like she is also convincing herself.

Yesterday morning Elena arrived at the clinic. They began to prepare her for surgery. They allocated a separate room where she waited. While Professor Teplyashin is also preparing for his very difficult work. A quarter of an hour before the operation, Elena is calm.

“I’m not afraid of anything,” she repeats and repeats. And in the end he still sobs. Some time ago, the girl was seriously thinking about committing suicide.

The time appointed for the operation arrived. Lena gets up and, looking straight ahead, strides into the bowels of the clinic with an emphatically firm gait. Suddenly she pauses for a minute and speaks clearly more to herself than to those around her: “I was very afraid of the first operation, but now I’m already having a second one. And I have no choice. My last hope". - And resolutely steps towards the anesthesiologist.

The clinic's doctors allowed the photographer into the holy of holies - the aesthetic surgery operating room. The first stage of the operation is the chest. The doctor makes an incision in the skin on the chest and prepares a special bioimplant. The composition is one of the secrets of the clinic. The main thing is no foreign silicone. Like dough, Professor Teplyashin vigorously kneads the implant so that the pliable material almost seeps between his fingers. And finally places it in the body. Second, and main stage- face. And the first difficulty here is to eliminate the scars and imperfections of the previous plastic surgery. The spectacle is not for the faint of heart. But everything seems to be going well...

After Lena Melnikova undergoes a special rehabilitation course at the clinic, geneticists and cell biologists will develop an individual biotechnological treatment program especially for her, which should end with an injection of stem cells. These cells are supposed to expel old age from a young body...

Once upon a time, the beautiful and smart 18-year-old student Melnikova had many fans. But when the disease began to develop, there was only one left who truly loves. The girl does not say his name, but she is sure that he is very worried and is waiting for her in Yoshkar-Ola. In the meantime, in Moscow, unemployed engineer-architect Melnikova lives with her brother.

People first started talking about premature aging syndrome 100 years ago. And not surprisingly, such cases occur once in 4-8 million babies. Progeria (from the Greek pro - before, gerontos - old man) - extremely rare genetic disease, accelerating the aging process by about 8-10 times.

Simply put, a child ages 10-15 years in one year. An eight-year-old looks 80 years old - with dry, wrinkled skin, a bald head... These children usually die at the age of 13-14 after several heart attacks and strokes against the background of progressive atherosclerosis, cataracts, glaucoma, complete loss of teeth, etc. And only a few live to 20 years or longer.

Now there are only 42 known cases of progeria in people in the world... Of these, 14 people live in the United States, 5 in Russia, the rest in Europe...

Features of such patients include dwarf stature, low weight (usually not exceeding 15-20 kg), excessively thin skin, poor joint mobility, underdeveloped chin, small face in comparison with the size of the head, which gives a person bird-like features. Due to the loss of subcutaneous fat, all blood vessels are visible. The voice is usually high. Mental development corresponds to age. And all these sick children are strikingly similar to each other.

12-year-old Seth Cook looks like an 80-year-old man. He has no hair, but he has the full range of diseases that older people suffer from. Therefore, every day the boy takes aspirin and other blood thinning medications. At 3 feet tall (just over a meter), Seth weighs 25 pounds (11.3 kg).

Ouri Barnett was born on April 16, 1996. Already at the age of five, poor Ouri began ischemic disease hearts. The attacks followed one after another. The baby often ended up in the hospital, but he had to be treated with the means that are usually prescribed to older people.

Ouri looked like a man who had suffered a stroke: his legs were weakening, and he began to stumble like a decrepit old man. His eyes were fading upper lip did not move, drooled, speech became unintelligible.

Ouri's mother did a lot to convey to people her experience and her observations of the unfortunate child. From the age of three, the child was taken to filming television programs and scientific conferences. The only condition that the mother set for sensation-hungry journalists was that they should not write that the baby was dying of progeria.

Most famous case progeria, described in the Russian press - the story of Alvydas Gudelyauskas, who suddenly began to grow old when he was already a 20-year-old guy. In just a matter of months, Alvidas turned into a 60-year-old man before our eyes. It was only after plastic surgery that he began to look like a mature man. In the photo on the left - this is what he looked like before the operation, on the right - after. Now Alvidas is only 32 years old.

Until recently, doctors were unable to determine the cause of the disease. And only recently, American researchers discovered that the cause of “childhood old age” or Hutchinson-Gilford progeria is only a single mutation.

According to the director of the National Genome Research Institute, Francis Collins, who led the study, the disease is not hereditary. A point mutation - when only one nucleotide is changed in a DNA molecule - occurs anew in each patient. People suffering from progeria die mainly from those diseases that are characteristic of old age. It has now been discovered that progeria is caused by a mutated form of the LMNA gene.

Seven year old man and his family

Children of the Khans. Rehena, Ali Hussein and Ikramul suffer from a rare disease. He's only seven years old, but he's already going bald. This is the most noticeable of the many symptoms of the disease that Ali Hussain Khan suffers from. He is still a boy, but he is already in middle age. This progeria is extremely rare disease, due to which Ali’s body ages prematurely.

Neither he nor his sister and brother - 19-year-old Rehena and 17-year-old Ikramul - have virtually no chance of living to 25.

This disease accelerates the development of children many times over. However, it also causes other problems: for example, a second row of teeth appears in their mouth, and the skin becomes very pale, almost transparent.

Such children get sick with what ordinary people suffer in old age. Last year, their sister Ravena, who also suffered from progreria, died of pneumonia. She was 16.

As soon as Ali Hussein begins to speak, it becomes clear that he is captured by childish enthusiasm and absorbed by hopes that are not characteristic of an adult.

“I would like to be an actor, drive cars and planes, be an action hero,” he says. “And then I would like to become a doctor, because doctors test me all the time, and I would like to test myself, and that’s why I wanted I would like to become a doctor someday."

Khany is unique in this sense: this is the only case known to science when more than one family member suffers from progreria. And thanks to this family, scientists were able to make a real breakthrough in understanding the nature of the disease.

Scientists led by pediatrician Chandan Chattopadhyay observed Khanami for two years and came to the conclusion that the disease is hereditary and recessive. This means that both parents can have her gene. In this case, Hana's husband and wife are each other's cousins. Neither of them has progreria, nor do their two other children - 14-year-old Sangeeta and two-year-old Gulavsa.

In recent years, the family has been looked after by a Kolkata-based charity. The head of the family, Bisul Khan, says life has treated him and his wife Rajia cruelly. Both of them are natives of one of the villages in the Indian state of Bihar. Local residents called their children aliens, and as a result they had to grow up in complete isolation.

“When we lived there in Bihar, every evening we sat in the room, unable to sleep, because one of the children was suffering from something, then the other,” Khan recalls. “And we thought - me and my wife, we sat down side by side and thought: how can we continue to live? We even thought about ending it all in one fell swoop..."

“But now the children live,” says the father. “They are energetic, they are happy, they live normal life"as far as possible, of course."

For the past two years, Khanami has been looked after by Sekhar Chattopadhyay, the head of the ABC Devi charity house in Kolkata. They now live in this city, although their exact address is kept secret.

The charity organization helped my father find a job as a security guard, but his salary is small, so they also help financially. But no less important than the money are the normal human contacts that the children acquired with the help of the charity.

“We support them and we have become friends,” says Chattopadhyay and bounces Ali Hussain on his knee. “Slowly I became friends with this family, and you just can’t imagine how much they love me.”

Thanks to his support, the Khans say they now live much fuller lives than before. They smile when they talk about their interests and hobbies.

Rehena says she loves Indian films, especially passionate love songs. When I ask if she sings herself, she says that she is shy, but it is still clear that she wants to demonstrate her abilities, and, having received approval, agrees to try.

"I love loving you, and when I don't see you, I can't wait until we meet again," she sings in Hindi.

Based on materials from various sources

“Looking at this flabby face, sunken eyes and flabby skin, one would hardly think that this is a child. However, this is so.” Many people know the story of 5-year-old Bayezid Hossain, who lives in southern Bangladesh. The boy suffers from a rare genetic disease - progeria, in which the body and the body age eight times faster than usual. It all starts with muscle atrophy, dystrophic processes in teeth, hair and nails, changes in the osteoarticular apparatus, this process ends with atherosclerosis, stroke and malignant tumors. As we see, progeria has not at all encouraging symptoms, which develop into fatal dangerous diseases. Therefore, such patients always face a fatal outcome. But is it possible to alleviate their suffering and even prolong their life? Or perhaps scientists are already one step away from creating a cure for this disorder? We'll tell you in today's article.

Hutchinson's syndrome in a child, Wikimedia

Infantile progeria, or Hutchinson (Hutchinson)-Guilford syndrome

For the first time, a disease in which the body ages prematurely was identified and described in 1889 by J. Hutchinson and independently in 1897 by H. Guilford. The syndrome, which manifests itself in childhood, was named in their honor.

Despite the fact that progeria is a rather rare disease (only one in 7 million newborns is diagnosed with it), over the entire history of observations of this disease, more than 150 cases have already been recorded in the world. At birth, children look absolutely healthy; the first signs of accelerated aging begin to appear in babies aged 10-24 months.

The cause of the disease is a mutation of the LMNA gene; it produces the protein prelamin A, which forms a unique protein network - the internal framework of the nuclear envelope. The result is that cells lose the ability to divide normally.

While studying patients, geneticists also discovered disturbances in DNA repair (restorative function), cloning fibroblasts (basic cells connective tissue) and the disappearance of subcutaneous tissue.

As a rule, progeria is not hereditary disease, and cases of its development are rare, but there are exceptions. In several families, such a mutation has been registered in sibling children - descendants of closely related parents. And this indicates the possibility of an autosomal recessive type of inheritance, which manifests itself in people in adulthood. By the way, this happens to one in 200,000 people.

Progeria in adults, or Werner's syndrome

Back in 1904, the German doctor Otto Werner noticed dramatic changes in appearance and condition in people 14-18 years old. He discovered the syndrome, which is associated with sudden weight loss, stunted growth, the appearance of gray hair and gradual baldness.

All these transformations of a teenager into an old man are associated with a defect in the WRN gene (ATP-dependent helicase gene). The role of the WRN protein it produces is to maintain genomic stability and maintain the structure and integrity of human DNA. Over time, the mutation disrupts gene expression, DNA loses the ability to be restored, which is the cause of premature aging.

Unlike young patients, who do not lag behind, and in some cases even surpass their peers in mental development, in adults the opposite effect is observed, because progeria begins to have a detrimental effect on them intellectual abilities.

About 10% of patients by the age of forty are faced with such terrible diseases as sarcoma, breast cancer, astrocytoma, and melanoma. Oncology develops against the background of diabetes mellitus and dysfunction of the parathyroid glands. Therefore, the average life expectancy of people with Werner syndrome is 30-40 years.

The world's first treatment for progeria. American scientists tested a unique drug

On this moment progeria is considered incurable disease. The lives of people with Hutchinson (Hutchinson)-Gilford syndrome are cut short at the age of 7-13 years, but there is isolated cases, when patients lived to be 20 or even 27 years old. And all this thanks to some kind of treatment.

However, specialists from the Progeria Research Foundation (PRF) and Boston Children's Hospital were not satisfied with such statistics. In 2012, they began the world's first clinical trials of a drug that could help rapidly aging children. And, as reported by EurekAlert! , they succeeded in this matter.

The study of patients with progeria lasted for 2.5 years. Scientists invited 28 children out of 16 to participate. various countries world, 75% of whom were diagnosed with the disease. The children came to Boston every four months and underwent full medical examination.

Throughout the entire period, subjects were given twice a day special drug farnesyltransferase inhibitor (FTI), which was originally developed to treat cancer. The research team assessed weight dynamics, arterial stiffness (a parameter for the risk of heart attack and stroke), and bone stiffness and density (a parameter for the risk of osteoporosis).

As a result, each child felt significantly better. The children began to gain weight, there were improvements in bone structure, and most importantly, in the cardiovascular system.

According to doctors, the results of this study are very encouraging. In the future, it is planned to continue studying FTI drugs and their effect, which will give Additional information O cardiovascular diseases and the normal aging process.

“The results of this trial are encouraging for our family. We are excited and hopeful about Megan's future. We are grateful to the Progeria Research Foundation and all the doctors for their commitment to helping my daughter and all children with progeria,” said Sandy Nighbor, mother of 12-year-old Megan, who participated in the clinical trial.

Progeria in culture and life

Believe me, it's never too late, or in my case, never too early to be who you want to be. There is no time frame - start whenever you want. You can change or remain the same - there are no rules for this. We can do better or worst choice, I hope you do the best.

This monologue is taken from David Fincher's film The Curious Case of Benjamin Button, which is based on the story of the same name by Francis Scott Fitzgerald.

From birth the hero of this known history was an outcast because from infancy he had the appearance and health of an 80-year-old man: he had wrinkles all over his body and atrophied legs. However time is running, and Benjamin, on the contrary, does not age, but becomes younger. Many different vicissitudes happen to a man, and, of course, love happens in his life.

IN real life There are no such miracles, and people with progeria never grow young. But, despite their illness, such people never cease to be happy. In particular, Leon Botha, a South African artist, musician and DJ, is known to the world not only for his creative activity, as well as the fact that with terrible disease was able to live until he was 26 years old.

Leon was diagnosed with progeria at the age of 4, but the disease did not ruin his life. This man loved to enjoy every minute, although he realized that his imminent death was inevitable. For example, in January 2007, a man organized his first personal art exhibition in Durbanville, the theme of which was hip-hop culture as a way of life. Let us note that the “young” man had several such shows.

Botha was also involved in DJing and turntablism (a type of DJing) and performed in famous clubs under the pseudonym DJ Solarize. In addition, he collaborated with the South African group Die Antwoord and starred in their video for the song Enter the Ninja.

But, unfortunately, progeria spares no one. Therefore, on June 5, 2011, Botha died of an embolism pulmonary artery– a pathological condition when part of a blood clot (embolus), detached from the primary site of its formation (often a leg or arm), moves through the blood vessels and clogs the lumen of the pulmonary artery.

Today, scientists all over the world are studying this mysterious disease. They want to move it from the list of fatal to the list of intractable. It is worth noting that science has already achieved enormous results in this direction. However, many questions remain that need to be understood, namely: what are the similarities and differences between special cases of progeria and normal aging of the body, how the genetic causes of Werner and Hutchinson (Hutchinson)-Gilford syndrome are related to each other, and how to resist accelerated aging of the body. Perhaps, after some time, answers will be found, and specialists will be able to prevent the development of the disease, thereby prolonging the lives of people with progeria.

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Progeria is a rare genetic disease, first described by Guilford, which manifests itself as premature aging of the body associated with its underdevelopment. Progeria is classified into childhood, called Hutchinson (Hutchinson)-Gilford syndrome, and adult progeria, called Werner syndrome.

With this disease, there is severe stunting from childhood, changes in skin structure, cachexia, absence of secondary sexual characteristics and hair, underdevelopment of internal organs and the appearance of an old person. Wherein mental condition The patient is age appropriate, the epiphyseal cartilaginous plate closes early, and the body has childlike proportions.

Progeria is an incurable disease and is the cause of serious atherosclerosis, which as a result develops strokes and various types. Ultimately, this genetic pathology leads to fatal outcome, i.e. it is fatal. As a rule, a child can live on average thirteen years, although there are cases with a life expectancy of more than twenty years.

Hutchinson-Gilford infantile progeria

This disease is extremely rare in the ratio of 1:4000000 newborns in the Netherlands and 1:8000000 in the USA. Moreover, the disease affects more boys than girls (1.2:1).

Two forms of Hutchinson-Gilford progeria are considered: classical and non-classical.

Currently, more than one hundred cases of childhood progeria have been described. Moreover, this disease mainly affects children of the white race. Hutchinson-Gilford progeria is characterized by polymorphic lesions. Children with this syndrome appear quite normal at birth. But by a year or two there is a serious lag in growth. Typically, such children are characterized by too short stature and even lower body weight in accordance with their length.

It is typical for children with progeria complete baldness not only the scalp, but also the absence of eyelashes and eyebrows from an early age. The skin appears weak and wrinkled as a result of the absolute loss of subcutaneous fat present in the skin. The head is characterized by disproportion of the craniofacial bones, which resemble the face of a bird with a hooked nose, an abnormally small lower jaw, bulging eyeballs and protruding ears. It is these features, a large bald spot and a small jaw, that give the child the appearance of an old person.

Other clinical manifestations progeria include: irregular and late teething, thin and high voice, pear-shaped rib cage and reduced in size collarbones. The limbs are usually thin, and the changed elbow and knee joints give the sick child a “rider pose.”

In children under one year of age, scleral-like compactions, congenital or acquired, are observed on the buttocks, thighs and lower abdomen. Children with progeria are characterized by hyperpigmentation of the skin, which only intensifies over the years, and hypoplasia of the nails, in which they become yellow, thin and convex, reminiscent of watch glasses. However, starting from the age of five, a widespread form of atherosclerosis develops with extensive damage to the aorta and arteries, especially the mesenteric and coronary ones. And much later, heart murmurs and cardiac hypertrophy appear in the left ventricle. The early onset of atherosclerosis in children causes their short life span. But it is considered the main cause of death.

There are known cases of progeria ischemic stroke. In mental development, such children are absolutely no different from healthy children, sometimes even ahead of them. Children with this diagnosis live on average about fourteen years.

With childhood progeria of non-classical form, body length lags slightly behind weight, hair is preserved for a long time, and lipodystrophy progresses much more slowly; a recessive type of inheritance is possible.

baby progeria photo

Progeria causes

Still exact reasons The occurrence of progeria has not been clarified. The presumptive etiology of the development of this disease is a metabolic disorder in the connective tissue, as a result of the proliferation of fibroblasts through cell division and increased collagen formation with reduced synthesis of glycosaminoglycans. The slow formation of fibroblasts is explained by disturbances in the intercellular substance.

In reasons childhood syndrome Progeria is considered to be a mutation in the LMNA gene, which is responsible for encoding lamin A. This is a protein that makes up one of the layers of the nucleus of the cell membrane.

In many cases, progeria appears sporadically, and in some families it occurs in siblings, especially in consanguineous marriages, and this indicates a possible autosomal recessive type of inheritance. When studying the skin of patients, cells were found that had an impaired ability to repair breaks and damage in DNA, as well as reproduce genetically homogeneous fibroblasts, change the atrophic dermis and epidermis, contributing to the disappearance of subcutaneous tissue.

Adult progeria is characterized by autosomal recessive inheritance with a defective ATP-dependent helicase gene, or WRN. There is a suggestion of a linking chain of disturbances between DNA repair and connective tissue turnover.

It has also been established that Hutchinson-Gilford progeria has disorders in carrier cells that cannot fully get rid of DNA cross-links caused by chemical agents. When diagnosing these cells with this syndrome, it was found that they are not able to fully undergo the division process.

In 1971, Olovnikov suggested that telomeres shorten in the process of cell formation. And in 1992, this was already proven in patients with adult progeria syndrome. An assay that links the Hayflick limit, telomere length, and telomerase enzyme activity allows for the integration of natural process aging with formation clinical symptoms Hutchinson-Gilford progeria infantile. Since this form of progeria is extremely rare, one can only hypothesize about the type of inheritance, which is similar to Cockayne syndrome and is manifested by certain features of premature aging.

There are also statements about Hutchinson-Gilford progeria being an autosomal dominant mutation that arose de novo, i.e. without inheritance. It became an indirect confirmation of the syndrome, which was based on measurements of telomeres in carriers of the disease, their parents and donors.

Progeria symptoms

The clinical picture of childhood progeria is characterized by characteristic premature atherosclerosis, myocardial fibrosis, cerebrovascular accidents, increased lipoproteins and cholesterol levels, prothrombin time in tests, early heart attacks, skeletal abnormalities. In this case, there are pronounced disproportions of the face and skull, underdevelopment of the jaw and teeth, and displacement of the hips. Long Bones with normal cortical structure and progression of peripheral demineralization, they are subject to recurrent pathological fractures.

The joints are characterized by tight mobility, especially the knees with possible contractures of the hip, ankle, elbow and wrist joints. X-ray studies reveal demineralization around joints with osteoporosis, varus and hallux valgus deformities lower limbs. Tumors and thickening of collagen fibers are also very common.

Werner's syndrome or adult progeria manifests itself from 14 to 18 years and is characterized by stunting, universal graying with parallel progression.

As a rule, progeria syndrome develops after twenty years and is characterized by early baldness, thinning of the skin on the face and limbs, and characteristic pallor. Under too-tight skin, superficial blood vessels, and subcutaneous fatty tissue and the muscles located underneath completely atrophy, so the limbs look disproportionately thin.

Then the skin over the bone protrusions gradually becomes thicker and ulcerates. After thirty years, patients with progeria develop cataracts in both eyes, the voice becomes weak, high-pitched and hoarse, and the skin is noticeably affected. This manifests itself in the form of sclerocerma-like changes in the limbs and face, ulcers on the legs, calluses on the feet and telangiectasia. Such patients are usually short in stature, with a moon-shaped face, a beak-like nose, like a bird’s, a narrowed mouth opening and a sharply protruding chin, a full body and thin limbs.

In patients with progeria, the functions of the sweat and sebaceous glands. On the protrusions of the bones, general hyperpigmentation appears, and the shape of the nail plates changes. And after various injuries, trophic ulcers appear on the legs and feet. In addition to thinning, patients experience significant changes in muscles and bones, calcification, generalized, osteoarthritis with erosions. Such patients have limited finger movements and flexion contracture. Patients with progeria are characterized by bone deformation, as in rheumatoid e, pain in the limbs, flat feet and osteomyelitis.

During X-ray examinations, osteoporosis of bones, heterotopic calcifications of the skin and subcutaneous tissue, ligaments and tendons are detected. Also, cataracts slowly progress and develop, disrupting the activity of the cardiovascular system. In most patients, intelligence decreases.

After forty years, progeria due to diabetes mellitus, dysfunctions parathyroid glands and other diseases, almost 10% of patients develop tumor pathologies in the form osteosarcoma, astrocytoma, thyroid adenocarcinoma, and skin.

Death is usually a consequence of cardiovascular pathologies and malignant tumors.

At histological analysis Progeria syndrome establishes atrophy of the skin appendages where the eccrine glands are preserved; the dermis is thickened, collagen fibers are hyalinized, and nerve fibers are destroyed.

In patients, the muscles completely atrophy and there is no subcutaneous fat.

The disease is diagnosed based on the clinical symptoms of progeria. If the diagnosis is in doubt, the ability of fibroblasts to multiply in culture is determined (reduced indicator for Werner syndrome). For differential diagnosis Progeria takes into account Hutchinson-Gilford, Rothmund-Thomson syndromes and systemic scleroderma.

Progeria treatment

To date, there is no specific treatment for progeria; it has not yet been developed. Basically, therapy is symptomatic in nature with the prevention of complications after atherosclerosis and the treatment of trophic ulcers.

For an anabolic effect, growth hormone is prescribed, which in some patients increases body weight and length. The entire therapeutic process is carried out by a number of specialists, such as an endocrinologist, therapist, cardiologist, oncologist and others, depending on the prevailing symptoms.

But in 2006, US researchers noted progression in the treatment of progeria as an incurable disease. They introduced a farnesyltransferase inhibitor into the culture of damaged fibroblasts, which had previously been tested on cancer patients. And this process returned to aging cells normal shape. This drug was well tolerated, so there is now hope that in the future it will be possible to use it to prevent progeria in childhood.

The effectiveness of Lonafarnib (farnesyl transferase inhibitor) is to increase the amount of fat under the skin, body weight, bone mineralization, which will ultimately reduce fractures.

But, nevertheless, this disease is still characterized by unfavorable prognosis. On average, patients with progeria live to the age of thirteen, dying from hemorrhages and heart attacks.

Progeria is a rare and incurable disease, with definitely not known mechanism, formed due to genetic damage. As a result of changes in genes, children, when born, begin to progressively and quickly turn into old people. With this disease, the life expectancy of all cells of the body and the entire organism as a whole is sharply reduced. Progeria is dangerous not only in children, but also in adults; the disease can progress from newborns or from adulthood.
The variant of progeria in infants is called Guilford Hutchinson syndrome; in adults it is called Werner syndrome. In essence, this is premature aging of the body.

Causes

Progeria is incurable, serious pathology, in which premature aging of the child’s body occurs, sometimes starting from the prenatal period. This is a genetic breakdown in one of the regions of the genes that are responsible in the body for the processes of cell aging and their death. IN normal conditions the aging program starts slowly and in late dates, after the organism matures. With progeria, this process is accelerated hundreds of times. Children of both sexes are susceptible to it; in a short time they turn into old people, although in fact they are quite a child. Progreria sometimes occurs in adolescents and adults, but this is even rarer.

The formation of progeria at an early age is called Guilford-Hutchinson syndrome; boys are usually affected somewhat more often; on average, the age of children is up to 10-13 years. IN in rare cases at special care Children with progeria live to be 18-20 years old. The disease cannot be stopped; it progresses and inexorably leads to death.

The mechanism of formation of the disease has not been thoroughly elucidated; with a high degree of probability, it has been determined that the mutation is caused by a special gene - lamin. This gene and the protein it produces are responsible for the process of proper cell division. If a malfunction occurs in the region of this gene, the cells lose their resistance to harmful environmental influences and the body starts the aging program. Although this is a genetic disease, it is not inherited, but family cases can occur - the birth of several children with progeria in a couple.

Symptoms

The manifestations of the disease are quite clear. Children from a very early age begin to lag behind their peers in terms of physical development. In addition, their body wears out too quickly, becoming what a person usually achieves after 70-90 years. The structure of the skin is disturbed, there are no signs of puberty, and the internal organs are sharply underdeveloped. Children outwardly look like old people, have childlike intelligence and suffer emotionally from similar disease. Their mental state is not disturbed in any way; they develop mentally according to age.

The body has the proportions of a child, with areas of cartilage where bone grows quickly overgrown, making the skeleton similar to that of an adult. The child’s body suffers from adult pathologies such as diabetes, atherosclerosis, and coronary heart disease. Usually dies from senile pathologies.

The main manifestations of progreria:

• At birth, the child is practically no different from healthy children.
• In the first year of life, height and weight gains lag sharply; children have very low height and weight.
• They have a pronounced lack of body fat, and their skin tone is sharply reduced, it is wrinkled and dry.
• Hair on the head, eyebrows and eyelashes, throughout the body does not grow or falls out quickly.
• The skin has strong pigmentation like old people and a bluish tint.
• The skull and facial bones are disproportionate, the eyes are protruding, the lower jaw is very small, the ears are protruding, and the nose is hooked.
• Teeth erupt late and fall out quickly, the voice has a high pitch, shrill and hoarse.
• The chest is shaped like a pear, the collarbones and limbs are small, the joints move tightly.

By the age of five, children are sharply affected by atherosclerosis, the walls of blood vessels, sclera-like formations form on the skin, especially on the buttocks, thighs and abdomen. suffer large vessels chest and abdomen, the structure and functioning of the heart changes.

Diagnosis of progeria in children

The basis of diagnosis is typical clinical manifestations. If necessary, carry out medical genetic counseling and identification of an abnormal gene. Examination and identification of pathological complications is also indicated.

Complications

The main complications of progeria are wear and tear of all internal organs, changes in the heart, the formation of strokes and heart attacks, diabetes and atherosclerosis. Patients die from these diseases after the age of 10 years. The prognosis for the pathology is unfavorable, cases of cure are unknown.

Treatment

What can you do

There is no cure for this pathology; it is not worth spending money on empty promises cure the baby. There is no way to correct gene defects yet. Complete care and maximum social adaptation, proper nutrition and baby care. No funds traditional medicine from progeria is also not available.

What does a doctor do

Drug treatment is also carried out only for the purpose of maintaining general condition health and prevention of complications. Prophylactic use of anticoagulants and drugs to lower cholesterol levels is indicated. Growth hormone can be used to help children gain weight and grow taller, and physical therapy is also indicated to improve the functioning of joints and internal organs.

Children with progeria have their baby teeth removed because their permanent teeth erupt early.

Prevention

Prevention methods have not been developed, since the pathology is genetic and is extremely difficult to influence. It is worth planning a pregnancy against the background of complete health, but it is impossible to completely predict the likelihood of having children with progeria.

You will also learn what can be dangerous untimely treatment progeria disease in children, and why it is so important to avoid the consequences. All about how to prevent progeria in children and prevent complications.

And caring parents will find on the pages of the service full information about the symptoms of progeria disease in children. How do the signs of the disease in children aged 1, 2 and 3 differ from the manifestations of the disease in children aged 4, 5, 6 and 7? What is the best way to treat progeria disease in children?

Take care of the health of your loved ones and stay in good shape!

Aging is natural sign development to which all living organisms are subject. This phenomenon occurs due to the exhaustion of internal biological resources. This process can develop in accordance with natural timing, or it can occur prematurely. What causes early aging, how to prevent it, how to eliminate its consequences are questions of interest to both scientists and ordinary people.

The root cause early aging is a metabolic failure of the functions of the endocrine and other systems.

For example, a lack of estrogen hormones in a woman leads to rapid aging of the skin and the whole body. Besides, important reasons, prematurely causing this process are bad habits, Wrong way life.

1. Established eating habits can have an impact harmful effects, accelerating wear and tear on the body. These include the consumption of sweets, refined, salty foods, red meat, alcohol, and foods containing trans fats.
2. Stress, inability to resist it. Nervous tension, depression and the uncontrollable problems they cause negative emotions, are a source of psychosomatic diseases leading to weakened immunity and premature aging. Women, being more emotionally sensitive, are more often exposed to depressive moods and experiences. However, in men, despite their emotional stability, stress causes more severe consequences.
3. The accumulation of toxins has a detrimental effect on the body, triggering prematurely the mechanism of decrepitness. This refers to uncontrolled intake medical supplies– antipyretics, antibiotics, hormones, anti-inflammatory, diuretic and sleeping pills. And also the consumption of chlorinated water, food saturated with pesticides, nitrates, hormones, antibiotics. Living in environmentally polluted areas also leads to the accumulation of toxins in the body.
4. Smoking and drinking alcohol contribute to an increase in the number of oxidative processes, leading to wear and tear, destruction of the body from the inside, and early formation of wrinkles.

Attention! One of the reasons that triggers the mechanism of premature aging in women is osteoporosis, caused by the loss of bone tissue due to lack of calcium in the body.

Progeria – a rare disease of rapid aging

Progeria or a disease of aging (premature), which is a rare - only 80 cases in the world - genetic failure that causes accelerated aging of all human organs.
It appears in two forms - childhood and adult, more common in boys.

First, Hutchinson-Gilford syndrome manifests itself in children at 1-2 years of age. Characterized by developmental delays, characteristic changes appearance, acquisition of senile features. Life expectancy for this form of the disease is about 20 years.

The second is that Werner syndrome develops in adolescence– up to 18 years of age. It is characterized by cessation of growth, early graying and baldness, weight loss, and changes in appearance. Average duration The lifespan of people with Werner syndrome barely exceeds 40 years.

Attention! Progeria is not a hereditary disease; genetics have absolutely nothing to do with its occurrence. The reasons that cause a sudden mutation of the lamin A (LMNA) gene, which triggers rapid aging, are still unknown. Drug treatment the disease does not have

Causes of skin aging

The appearance of the first signs of maturity and aging of the skin can be observed quite early, for some already at the age of 25. They appear in the form of the first facial wrinkles caused by bright facial expressions and anatomical features faces. While the skin of the face retains its elasticity, during muscle relaxation, it is able to smooth out. But over time, its properties change and previously superficial wrinkles become deeper. The loss of the skin's ability to self-heal and regenerate is the main reason for its withering.

When considering the conditions that cause rapid skin aging, it should be noted that this process depends on many factors, some of which can be controlled:

1. Sun. It not only saturates the body with vitamin D, but is a cause of accelerated aging and cancer. Skin unprotected by clothing or special sunscreen in the sun undergoes photoaging - a process caused by the influence of ultraviolet rays penetrating deep into the dermis, causing activation of oxidative processes, destruction of capillaries, collagen fibers, and phototoxic reactions. The desire to quickly tan in a solarium has the same destructive effect on the skin. As a result of prolonged exposure to UV radiation, skin elasticity decreases.
2. Dehydration. In skin cells suffering from dehydration, the structure is disrupted, which leads to the formation of fine wrinkles and tightness of the skin.
3. Natural factors. Negatively affect skin covering, causing dehydration, early wilting, prolonged exposure to dry air, frost, wind, dust, and high humidity.
4. Avitaminosis. Lack of vitamins leads to depletion of the body, causes skin aging and early education wrinkles

Types aging

U different people skin aging processes begin in different ways and in different terms, which allows us to divide them into 5 types:

1. “Fatigue of the face” occurs in those with a combination skin type and is characterized by a loss of skin elasticity, the appearance of puffiness, the formation of a pronounced nasolabial fold, and drooping of the corners of the mouth.
2. “Bulldog cheeks” is a deformation type of aging, typical for those who are prone to obesity oily skin. It is characterized by changes in the contours of the face and neck, the appearance of jowls, swelling, and highly developed nasolabial folds.
3. “Finely wrinkled face” - this type is characterized by the presence of dry skin and the formation of a network of small horizontal and vertical wrinkles in the corners of the eyes, on the forehead, cheeks, and around the contour of the lips. It occurs as a result of skin dehydration, and also in those with dry skin, it manifests itself early.
4. “Mixed type” – combining the signs of deformation, wrinkled and skin types of aging that lose elasticity.
5. “Muscular type” is a type of aging characteristic of Asians; its characteristic features are wrinkling around the eyes.

Prevention of aging

A set of measures taken to reduce the wear and tear of the body’s internal reserves is the best prevention of premature senescence.

Leading a healthy lifestyle

Physical and mental activity, changing thinking and nutritional culture, adherence to activity and rest regimes, refusal bad habits– conditions that promote the prolongation of youth.

A daily routine consisting of alternating work and rest promotes rapid recovery strength, but reasonable physical exercise and an active lifestyle help to resist stress.

Nutrition

Healthy eating is one of the ways to prevent early aging, as modern nutritionists say. Including foods rich in antioxidants in your diet helps eliminate free radicals, thereby prolonging youth. These include:

• spinach, tomatoes, broccoli, pumpkin;
• grapes, strawberries, oranges;
• cinnamon, ginger;
• poultry, fatty fish;
• green tea, red wine.

This is far from full list products that can saturate cells with antioxidants, increasing their resistance to the effects of time.

Maintaining water regime

Allows you to maintain a normal vital balance in cells and tissues and prevent their wear and tear.

Prevention of physiological dysfunctions

Allows you to regulate metabolic and trophic processes in the body. Assumes:

• carrying out anti-aging cosmetic procedures;
• targeted training aimed at maintaining physical fitness;
• gentle use of dietary supplements, vitamins and pharmaceuticals stimulating the restoration and strengthening of the immune system.

Correction of external signs of accelerated aging

When talking about trying to eliminate signs of early skin aging, we mean correcting wrinkles and improving skin elasticity. Here the tools of the beauty industry will come to the rescue, which, although it is not able to stop time, has many ways to adjust its influence. When choosing one method or another, you should take into account your skin type, as well as the type of aging and the degree of its manifestation. For the purpose of rejuvenation, the skin of the face can be affected by:

• therapeutically - with the help of masks, chemical peeling, paraffin therapy, various techniques massage, mesotherapy, beauty injections and other methods;
• hardware - performing phonophoresis, hardware massage or laser therapy;
• surgically - using plastic surgery or endoscopic lifting.

When planning to use a radical (surgical) method for correcting signs of skin aging, you should take into account the type of aging in order to choose the best method that can give maximum effect with minimal impact

The skin, like the entire body, undergoes irreversible changes. And yet, as practice shows, their premature wear can be controlled by reducing the number of external unfavorable factors. Leading healthy image life, taking care of your appearance, monitoring your health and well-being, periodically conducting a course of maintenance therapy in the form of multivitamin complexes, carrying out massages, and other health and rejuvenating procedures, you can achieve significant success in the fight for youth.

Aging early or later - it all depends on ourselves, dear women. Our beauty is the result of hard work. Stay young and beautiful!