Acute porphyria is it possible to fully recover. What is Acute Intermittent Porphyria
Seizures are provoked by some medications and other factors. Diagnosis is based on elevated levels i-aminolevulinic acid and the porphyrin precursor porphobilinogen in the urine during attacks. Attacks are stopped by the introduction of glucose or (in more severe cases) by intravenous administration of heme. Carry out if necessary symptomatic therapy including the use of analgesics.
Acute porphyrias include (in descending order of frequency) acute intermittent porphyria (API), variegated porphyria (VP), hereditary coproporphyria (HCP), and the extremely rare 6-DALK-deficient porphyria.
Heterozygotes have acute porphyrias up to puberty appear rarely, and later - only in 20-30% of carriers of enzymatic defects. In homozygotes and double heterozygotes, the disease often presents with more severe symptoms and usually occurs in childhood.
Provoking factors
The effect of numerous provoking factors is usually associated with the stimulation of heme biosynthesis to an extent that exceeds the capabilities of the defective enzyme. As a result, precursors - porphobilinoten (PBG) and 5-aminolevulinic acid (ALA) accumulate, and in the case of DALA-deficient porphyria - only ALA.
An important role is played hormonal factors. Seizures are more common in women than in men, especially during periods hormonal changes(immediately before menstruation, when using oral contraceptives, on early dates pregnancy).
Other precipitating factors include medications(barbiturates, other antiepileptic drugs and sulfonamide antibiotics) and sex hormones, especially those that induce ALA synthase and cytochrome P-450 enzymes in the liver. Attacks usually occur on the first day after exposure to provocative agents. Symptoms can also be triggered by a low-calorie, low-carbohydrate diet, alcohol, and organic solvents. Sometimes attacks develop against the background of infectious and other diseases, mental experiences and surgical interventions. Usually the cause of the attack are several factors at once, which are sometimes difficult to identify.
With VP and NCP skin manifestations triggered by sunlight.
Symptoms and signs of acute porphyria
Acute porphyrias are characterized by symptoms and signs of damage. nervous system, abdominal pain, or both (neurovisceral manifestations). Most carriers of the defective gene will experience only a few or no seizures in their lifetime. In others, symptoms recur. In women, seizures are often timed to phases of the menstrual cycle.
An attack of acute porphyria
An acute attack is usually preceded by constipation, fatigue, irritability, and insomnia. Most common symptoms- Abdominal pain and vomiting. Pain is excruciating and does not correspond to muscle tension abdominal wall. She is associated with toxic damage visceral nerves or organ ischemia due to local vasoconstriction. Since there is no inflammation, the abdomen remains soft; there are no signs of peritoneal irritation. The temperature and the number of leukocytes are normal or only slightly elevated. Paralytic intestinal obstruction may be accompanied by bloating. Urine during an attack turns red or red-brown color and contains PBG.
All parts of the peripheral and central nervous system can be affected. For severe and prolonged seizures, it is characteristic motor neuropathy. Initially, the motor neurons of the extremities are usually affected (leading to weakness of the arms and legs), but any motor neurons and cranial nerves; possible development of tetraplegia. Bulvar lesions lead to respiratory failure.
CNS damage may present with seizures or mental disorders(apathy, depression, agitation, and even overt psychosis with hallucinations). Convulsions, psychotic behavior and hallucinations may also be associated with hyponatremia or hypomagnesemia, which are accompanied by cardiac arrhythmias.
Anxiety and tachycardia are usually due to an excess of catecholamines; V rare cases catecholamine arrhythmias are the cause sudden death. Labile hypertension with transient rises in blood pressure, if left untreated, causes vascular changes leading to irreversible hypertension. At the core kidney failure at acute porphyria many factors lie; chief among them is probably hypertension, turning into chronic arterial hypertension.
Subacute or subchronic symptoms
In some patients, symptoms persist for more long time, but are less pronounced (for example, constipation, fatigue, headaches, pain in the lower back or hips, paresthesia, tachycardia, shortness of breath, insomnia, mental changes, convulsions).
Skin symptoms in CAP and NKP
Even in the absence of neurovisceral symptoms, the skin becomes easily vulnerable and bullous eruptions appear on open areas of the body. Patients often do not know that they should not be in the sun. Skin symptoms in acute porphyria do not differ from those in late cutaneous porphyria.
Late manifestations
Motility disorders during acute attacks may cause constant weakness and between attacks. In the second half of life in patients with AKI and, possibly, with CAP and LCP, especially after attacks, the frequency of hepatocellular cancer increases, hypertension and kidney failure.
Diagnosis of acute porphyria
- Urinalysis for PBG.
- With positive results - quantitative determination of ALA and PBG.
- If necessary, find out the type of disease - genetic analysis.
Acute attack. The diagnosis is often erroneous, since an acute attack mimics the state of " acute abdomen” (which sometimes leads to unnecessary surgical operation) or nervous or mental illness. An attack of porphyria should be suspected in patients who have previously been identified as carriers of the defective gene or who have a family history of porphyria. However, even in known cases carriers of the defective gene, it is necessary to evaluate the possibility of other causes of an acute attack.
The main symptom is red or red-brown urine, which was not there before the onset of the attack. Therefore, urine should be examined in all patients complaining of abdominal pain (not having clear reason), especially in the presence of constipation, vomiting, tachycardia, muscle weakness, tabular symptoms or mental abnormalities.
If porphyria is suspected, the content of PBG in the urine is determined by rapid qualitative or semi-quantitative methods. Positive results analysis or a convincing clinical picture requires the quantitative determination of ALA and PBG (preferably in the same urine samples that were previously examined). The content of PBG and ALA, more than 5 times the norm, indicates an acute attack of porphyria, unless the patient is a carrier of a defective gene, in which the same high excretion of porphyrin precursors occurred in the latent phase of the disease.
At normal levels PBG and ALC should consider a different diagnosis. Elevated ALA with normal or slightly elevated PBG indicates lead poisoning or DALA-deficient porphyria. Analysis of daily urine in such cases is useless. Instead, random portions of urine are analyzed, adjusted for dilution by creatinine levels. It is also necessary to determine the content of electrolytes and Mg. The cause of hyponatremia may be severe vomiting or diarrhea after administration of a hypotonic solution.
Determining the type of porphyria. Since the therapy for acute porphyria of any type is the same, finding out the type of disease is important mainly for detecting carriers of the defective gene among the patient's relatives. If there is already a family history of porphyria type and mutation, the diagnosis is clear but can be confirmed by genetic testing. It is not necessary to determine the activity of enzymes to confirm the diagnosis. If there is no indication of the diagnosis in the family history, the forms of acute porphyria are distinguished by the accumulation of typical compounds in plasma and their excretion in urine and feces. With elevated levels of ALA and PBG in the urine, the content of porphyrins in the feces is determined. AKI is characterized by normal or only slightly elevated fecal levels, while NCP and VP are high. In the latent phase of the disease, these markers are often absent. In NCP and EP, plasma contains porphyrins with a characteristic fluorescence. A decrease in the activity of PBG deaminase in erythrocytes by about 50% of the norm indicates AKI, a deficiency of protoporphyrinogen oxidase in leukocytes indicates EP, and a deficiency of coproporphyrinogen oxidase indicates NCL.
Examination of family members. The risk of inheriting the disease is 50%. Since therapeutic recommendations after diagnosis reduce the risk of disease manifestation, children in affected families should be examined before the onset of puberty. If the mutation is known, the child is genetically analyzed; if it is unknown, determine the activity of the corresponding enzymes in erythrocytes or leukocytes. genetic research carried out for intrauterine diagnosis (by amniocentesis or analysis of chorionic villi), but given the favorable outlook for most carriers of the defective gene, intrauterine diagnosis rarely shown.
Prognosis of acute porphyria
Advances in medicine and self-help techniques are improving the prognosis of patients with symptoms of porphyria. However, some of them still have frequent crises or develop permanent paralysis and kidney failure. In addition, the need for strong analgesics can lead to the spread of drug addiction.
Treatment of acute porphyria
- If possible, eliminate provoking factors.
- Dextrose (by mouth or IV).
- In / in gem.
Treatment of an acute attack is the same for all acute porphyrias. Identify and eliminate possible provoking factors. With the exception of mild cases, hospitalization of the patient in a quiet, darkened separate room is required. Control heart rate, blood pressure, water and electrolyte balance. Continuously follow neurological status patient, function Bladder the state of muscles and ligaments, respiratory function and blood oxygen saturation (pulse oximetry). For the relief of symptoms (pain, vomiting), safe means are used in this case.
Dextrose (300-500 g per day) inhibits ALA synthase and alleviates symptoms. In the absence of vomiting, dextrose is administered orally, with vomiting - in / in. To avoid over hydration with concomitant hyponatremia, 50% dextrose solution is administered drip through the central venous catheter(1 liter in 24 hours).
In / in the introduction of heme is more effective than the introduction of dextrose, and with severe attack, violation electrolyte balance or severe muscle weakness, it should be started immediately. The introduction of heme usually eliminates the symptoms within 3-4 days. Delay in heme therapy threatens with more severe nerve damage and slower and less full recovery the patient's condition. In the US, heme is available as lyophilized hematin, which is diluted sterile water. When hematin is used, heme breakdown products are rapidly formed, which can cause phlebitis at the site of infusion; these products also have a transient anticoagulant effect. When hematin is diluted with 20% human albumin side effects less pronounced. Heme arginate is more stable and usually devoid of toxicity.
In patients with severe recurrent seizures that threaten kidney damage or permanent neurological deficits, liver transplantation is a possible alternative. In active disease and end-stage renal disease, simultaneous kidney and liver transplantation should be considered, as dialysis greatly increases the risk of nerve damage.
Prevention
Carriers of the acute porphyria gene should avoid:
- potentially dangerous medicines;
- alcohol;
- emotional stress;
- contact with organic solvents;
- strict diets;
- fasting periods.
An obese diet should lead to gradual decline weight and be used only during periods of remission. CAP or NCP carriers should minimize sun exposure. Sunscreens that only block UVB are ineffective; it is better to use light-blocking creams with titanium dioxide. All patients through associations of porphyria patients should be provided with written information materials and have the opportunity for direct counseling.
Carriage of the disease should be clearly marked in medical documents and give patients a special form with a list of necessary precautions.
A high carbohydrate diet reduces the risk of acute attacks. Such a diet or taking a piece of sugar every hour alleviates the symptoms of an acute attack.
For frequent and predictable seizures (for example, in women whose seizures are associated with menstrual cycle) prophylactic administration of heme shortly before the expected onset of an attack may help. There are no standard recommendations in this regard; a specialist should be consulted. Frequent premenstrual seizures in some women can be prevented by the administration of a gonadotropin-releasing hormone analog in combination with low doses of estrogen. Sometimes successfully used oral contraceptives, but their progestin component can exacerbate the symptoms of porphyria.
To prevent kidney damage, chronic arterial hypertension must be controlled (using safe means). Patients with apparent renal dysfunction are referred to a nephrologist.
Among carriers of the gene for acute porphyria, especially with clinically expressed disease, the frequency of hepatocellular cancer is high. Patients over 50 years of age should have an annual or bi-annual examination to assess the state of the liver (ultrasound with contrast). Timely intervention can increase the life expectancy of patients.
Acute intermittent porphyria- a genetically determined disease caused by lesions of the central nervous system, less often - the peripheral nervous system, periodic pain in the abdomen, increased blood pressure and excretion of urine Pink colour in connection with big amount it contains a precursor of porphyrins.
What provokes / Causes of Acute intermittent porphyria:
The disease is genetically determined, transmitted in an autosomal dominant manner.
More often the disease affects young women, girls and is provoked by pregnancy, childbirth. It is also possible to develop the disease due to the intake of a number of drugs, such as barbiturates, sulfa drugs, analgin. Most often, exacerbations are noted after operations, especially if sodium thiopental was used for premedication.
Pathogenesis (what happens?) during Acute Intermittent Porphyria:
The disease is based on a violation of the activity of the enzyme uroporphyrinogen I-synthase, as well as an increase in the activity of 6-aminolevulinic acid synthase.
The clinical manifestations of the disease are characterized by accumulation in nerve cell toxic substance 8-aminolevulinic acid. This compound is concentrated in the hypothalamus and inhibits the activity of cerebral sodium-potassium-dependent adenosine phosphatase, which leads to disruption of ion transport across membranes and impairs nerve function.
In the future, demyelination of the nerves, axonal neuropathy develop, which causes all clinical manifestations illness.
Symptoms of Acute Intermittent Porphyria:
Most hallmark acute intermittent porphyria are abdominal pain. Sometimes severe pain is preceded by a delay in menstruation. Often, patients are operated on, but the cause of the pain is not found.
In acute porphyria, the nervous system is affected by the type of severe polyneuritis. It begins with pain in the limbs, difficulty in movement associated with both pain and symmetrical movement disorders especially in the muscles of the limbs. If in pathological process muscles of the wrist, ankle, hand are involved, then almost irreversible deformities can develop. With the progression of the process, paresis occurs in four limbs, in the future, paralysis of the respiratory muscles and death are possible.
Also, the central nervous system is involved in the process, as a result of which convulsions, epileptiform seizures, delirium, hallucinations appear.
In most patients, blood pressure rises, severe arterial hypertension with an increase in both systolic and diastolic pressure.
The doctor should stop taking some seemingly harmless drugs, such as valocordin, bellaspon, belloid, theofedrine, containing phenobarbital, which can exacerbate the disease. The exacerbation of this form of porphyria also occurs under the influence of female sex hormones, antifungal drugs(griseofulvin).
heavy neurological disorders are often the cause lethal outcome, however, in some cases, neurological symptoms subside, followed by remission. Due to this characteristic clinical picture His disease was called acute intermittent porphyria.
It should be noted that not all carriers of the pathological gene have the disease manifested clinically. Often, relatives of patients, especially men, have biochemical signs of the disease, but there are no and there have not been any clinical symptoms. This is a latent form of acute intermittent porphyria. In such people, when exposed adverse factors severe exacerbation may occur.
Diagnosis of Acute Intermittent Porphyria:
Diagnosis of acute intermittent porphyria is based on the detection in the urine of patients with precursors for the synthesis of porphyrins (the so-called porphobilinogen), as well as 6-aminolevulinic acid.
Differential Diagnosis acute intermittent porphyria carried out with other, rarer, forms of porphyria (hereditary coproporphyria, variegated porphyria), as well as with lead poisoning.
Lead poisoning is characterized by abdominal pain, polyneuritis. However, lead poisoning, unlike acute porphyria, is accompanied by hypochromic anemia with basophilic puncture of erythrocytes and high content serum iron. Anemia is not typical for acute porphyria. In women suffering acute porphyria and menorrhagia, chronic posthemorrhagic Iron-deficiency anemia accompanied by low content serum iron.
Treatment for Acute Intermittent Porphyria:
First of all, all drugs that lead to an exacerbation of the disease should be excluded from use. Do not prescribe analgin, tranquilizers to patients. At severe pain shown drugs, chlorpromazine. With a sharp tachycardia, a significant increase in blood pressure, it is advisable to use inderal or obzidan, with severe constipation - prozerin.
A number of drugs (primarily glucose) used in acute intermittent porphyria are aimed at reducing the production of porphyrins. A diet high in carbohydrates is recommended, concentrated glucose solutions are administered intravenously (up to 200 g / day).
A significant effect in severe cases gives the introduction of hematin, but the drug sometimes causes dangerous reactions.
In severe cases of acute porphyria, in case of respiratory failure, patients need long-term controlled ventilation of the lungs.
In the case of positive dynamics, as well as with a noticeable improvement in the condition of patients, as rehabilitation therapy apply massage, therapeutic gymnastics.
In remission, prevention of exacerbations is necessary, first of all, the exclusion of drugs that cause exacerbations.
The prognosis in case of damage to the nervous system is quite serious, especially when using artificial ventilation lungs.
If the disease progresses without severe violations, the prognosis is quite good. It is often possible to achieve remission in patients with severe tetraparesis, mental disorders. It is necessary to examine the relatives of patients to identify biochemical signs of porphyria. All patients with latent form porphyria should avoid drugs and chemicals, aggravating porphyria.
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Other diseases from the group Diseases of the blood, hematopoietic organs and individual disorders involving the immune mechanism:
| B12 deficiency anemia |
| Anemia due to impaired synthesis by utilization of porphyrins |
| Anemia due to a violation of the structure of globin chains |
| Anemia characterized by the carriage of pathologically unstable hemoglobins |
| Anemia Fanconi |
| Anemia associated with lead poisoning |
| aplastic anemia |
| Autoimmune hemolytic anemia |
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| Marchiafava-Micheli disease |
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Acute intermittent porphyria- a disease inherited by dominant type, characterized by damage to the peripheral and central nervous system.
The basis of the pathogenesis is, in all likelihood, a violation of the activity of the uroporphyrinogen I synthase enzyme and an increase in the activity of the d-aminolevulinic acid synthase enzyme. Clinical manifestations are due to the accumulation of d-aminolevulinic acid in nerve cells, which leads to inhibition of the activity of sodium-, potassium-dependent adenosine phosphatase and disruption of ion transport through membranes, that is, to dysfunction of the nerve fiber. Its demyelination, axonal neuropathy develops.
signs
The most characteristic sign of acute intermittent porphyria is abdominal pain, which can be localized in its various parts. Damage to the nervous system is manifested by severe polyneuritis; tetraparesis may develop, and paralysis of the respiratory muscles is possible in the future. Sometimes there is a lesion of the central nervous system; epileptiform seizures are noted, as well as hallucinations, delirium. Exacerbation of the disease is provoked by pregnancy, childbirth, taking a number of medicines(for example, barbiturates, tranquilizers, sulfonamides, estrogen). Severe exacerbations come after surgical interventions when sodium thiopental is used for premedication. After the development of severe exacerbations, spontaneous remission may occur with full restoration of all functions.
Diagnostics
The diagnosis is established on the basis of the clinical picture and data laboratory research: detection in urine high content precursors for the synthesis of porphyrins - porphobilinogen and d-aminolevulinic acid.
Treatment
With severe pain, narcotic analgesics, chlorpromazine can be used. With a sharp tachycardia and an increase in blood pressure, use d blockers. To reduce the production of porphyrins, glucose is injected up to 200 g per day intravenously or phosphaden (adenyl) up to 250 mg per day intramuscularly. In severe cases, the drug hematin is prescribed; Plasmapheresis has a certain effect.
When the condition improves, massage and therapeutic exercises are used to restore movements.
Used materials
- Idelson L.I. Porfiria. - M., 1981
- Idelson L.I., Dedkovsky N.A. and Ermilchenko G.V. Hemolytic anemia. - M., 1975
- Guide to Hematology / Ed. A.I. Vorobyov. - M., 1985. - T. 2. - S. 148.
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Acute intermittent porphyria- a genetically determined disease caused by damage to the central nervous system, less often - the peripheral nervous system, periodic pain in the abdomen, increased blood pressure and pink urine due to the large amount of porphyrin precursor in it.
What causes Acute Intermittent Porphyria:
The disease is genetically determined, transmitted in an autosomal dominant manner.
More often the disease affects young women, girls and is provoked by pregnancy, childbirth. It is also possible to develop the disease due to the intake of a number of drugs, such as barbiturates, sulfa drugs, analgin. Most often, exacerbations are noted after operations, especially if sodium thiopental was used for premedication.
Pathogenesis (what happens?) during Acute Intermittent Porphyria:
The disease is based on a violation of the activity of the enzyme uroporphyrinogen I-synthase, as well as an increase in the activity of 6-aminolevulinic acid synthase.
The clinical manifestations of the disease are characterized by the accumulation of the toxic substance 8-aminolevulinic acid in the nerve cell. This compound is concentrated in the hypothalamus and inhibits the activity of cerebral sodium-potassium-dependent adenosine phosphatase, which leads to disruption of ion transport across membranes and impairs nerve function.
In the future, demyelination of the nerves, axonal neuropathy develop, which determines all the clinical manifestations of the disease.
Symptoms of Acute Intermittent Porphyria:
The most characteristic symptom of acute intermittent porphyria is abdominal pain. Sometimes severe pain is preceded by a delay in menstruation. Often, patients are operated on, but the cause of the pain is not found.
In acute porphyria, the nervous system is affected by the type of severe polyneuritis. It begins with pain in the limbs, difficulty in movement associated with both pain and symmetrical movement disorders, primarily in the muscles of the limbs. If the muscles of the wrist, ankle, hand are involved in the pathological process, then almost irreversible deformities can develop. With the progression of the process, paresis occurs in four limbs, in the future, paralysis of the respiratory muscles and death are possible.
Also, the central nervous system is involved in the process, as a result of which convulsions, epileptiform seizures, delirium, hallucinations appear.
In most patients, blood pressure rises, severe arterial hypertension is possible with an increase in both systolic and diastolic pressure.
The doctor should stop taking some seemingly harmless drugs, such as valocordin, bellaspon, belloid, theofedrine, containing phenobarbital, which can exacerbate the disease. The exacerbation of this form of porphyria also occurs under the influence of female sex hormones, antifungal drugs (griseofulvin).
Severe neurological disorders are often the cause of death, but in some cases, neurological symptoms subside, followed by remission. In connection with such a characteristic clinical picture of the disease, it was called acute intermittent porphyria.
It should be noted that not all carriers of the pathological gene have the disease manifested clinically. Often, relatives of patients, especially men, have biochemical signs of the disease, but there are no and have not been any clinical symptoms. This is a latent form of acute intermittent porphyria. In such people, when exposed to adverse factors, a severe exacerbation may occur.
Diagnosis of Acute Intermittent Porphyria:
Diagnosis of acute intermittent porphyria is based on the detection in the urine of patients with precursors for the synthesis of porphyrins (the so-called porphobilinogen), as well as 6-aminolevulinic acid.
Differential diagnosis of acute intermittent porphyria carried out with other, rarer, forms of porphyria (hereditary coproporphyria, variegated porphyria), as well as with lead poisoning.
Lead poisoning is characterized by abdominal pain, polyneuritis. However, lead poisoning, in contrast to acute porphyria, is accompanied by hypochromic anemia with basophilic puncture of erythrocytes and high serum iron. Anemia is not typical for acute porphyria. In women suffering from acute porphyria and menorrhagia, chronic post-hemorrhagic iron deficiency anemia is possible, accompanied by a low serum iron content.
Treatment for Acute Intermittent Porphyria:
First of all, all drugs that lead to an exacerbation of the disease should be excluded from use. Do not prescribe analgin, tranquilizers to patients. With severe pain, narcotic drugs, chlorpromazine are indicated. With a sharp tachycardia, a significant increase in blood pressure, it is advisable to use inderal or obzidan, with severe constipation - prozerin.
A number of drugs (primarily glucose) used in acute intermittent porphyria are aimed at reducing the production of porphyrins. A diet high in carbohydrates is recommended, concentrated glucose solutions are administered intravenously (up to 200 g / day).
A significant effect in severe cases gives the introduction of hematin, but the drug sometimes causes dangerous reactions.
In severe cases of acute porphyria, in case of respiratory failure, patients need long-term controlled ventilation of the lungs.
In the case of positive dynamics, as well as with a noticeable improvement in the condition of patients, massage and therapeutic exercises are used as rehabilitation therapy.
In remission, prevention of exacerbations is necessary, first of all, the exclusion of drugs that cause exacerbations.
The prognosis in case of damage to the nervous system is quite serious, especially when using mechanical ventilation.
If the disease proceeds without severe disorders, the prognosis is quite good. It is often possible to achieve remission in patients with severe tetraparesis, mental disorders. It is necessary to examine the relatives of patients to identify biochemical signs of porphyria. All patients with latent porphyria should avoid drugs and chemicals that aggravate the porphyria.
