Late skin porphyria

Description:

It is the most frequent form of hepatic porphyrias. The role of hereditary factors in development of a disease does not raise doubts, however the way of transfer of genetic defect is not established.

Prevalence. The disease occurs preferential At the citizens making 75-80% of patients. Most often residents of the cities with the developed chemical industry are ill.

Symptoms of the Late skin porphyria:

Features of clinical manifestations:

The first clinical displays of a disease are noted usually after 30 years, the disease quite often provokes reception of medicines. Preferential men are ill, In a clinical picture symptoms of damage of skin prevail: brown pigmentation, easy vulnerability with formation of bubbles on the sites which are treated to light action, a hypertrichosis (especially periokulyarny), a skin atrophy. The injection of vessels, conjunctivas is often observed. Defeat of cardiovascular system is often shown by the alternating lameness, a myocardial infarction. At some patients the diabetopodobny syndrome develops.

The hepatomegalia is observed often. Changes in a liver undergo the evolution characteristic of chronic hepatitis and cirrhosis, and the last is noted at a porphyria by 28 times more often than in population in general, and liver cancer - by 130 times.

Reasons of the Late skin porphyria:

Localization of fermental defects in system of synthesis a subject various. Most hard process proceeds when blocking an uroporphyrinogen-1-decarboxylase, it is easier - at disturbances in the fermental гепатокарбоксил-перфириноген-декарбоксилаза system and uroporphyrinogen-kosintetaza. Accumulation in an organism of an uroporfirin, coproporphyrin and other predecessors gem is a consequence of defect. Various porphyrines are emitted from an organism with urine and a stake, laid in bones, kidneys and other bodies. Especially much they collect in a liver.

Implementation of genetic defect at late skin porphyrias the majority of cases is promoted by diseases of a liver of various nature (chronic alcoholic defeats, alimentary tsirror a liver, etc.), and also intoxications (lead, ethylated Benin, some fungicides, etc.), use of estrogen with the medical purpose, etc. Reception of barbiturates for this form of a porphyria of pathogenetic value has no. Insolation provokes a late skin porphyria what developing of a disease of summer or is connected in the fall with.

Treatment of the Late skin porphyria:

Among complexons one of the first began to apply:

    * British anti-lewisite (BALL); kaltsiydinatriyevy salt of ethylene diamine tetraacetic acid in the form of 10% of solution in/in on 20 ml daily within 10 days;
    * now apply Unithiolum close on pharmacological properties to the BALL: 5% enter solution of Unithiolum on 5 ml in oil daily within 10 days. Periodically courses of treatment are repeated. Unithiolum combination to injections of vitamins of group B in all-therapeutic doses is especially shown;
    * use of the complex of vitamins including nicotinic and folic acids is effective;
    * for the purpose of mobilization of iron and porphyrines from a liver apply the repeated bloodlettings significantly improving health and a condition of the patient. At the same time within the first month treatment by bloodletting (of 500 ml) is made once a week, during the second or third months - 1 times in 2 weeks, further - once a month before disappearance of clinical symptoms of a disease and normalization of release of porphyrines with urine. At treatment by bloodlettings monthly control of the main indicators of peripheral blood is necessary (the maintenance of erythrocytes, protein, iron, etc.);
    * for the purpose of absorption of excess amount of porphyrines use enterosorbents (absorbent carbon, Polyphepanum, etc.). Duration of a course is 3-4 weeks. The favorable effect renders холестирамин (10-16 g/days) which action is connected with reduction of a resorption of porphyrines from intestines.

Basis of treatment-and-prophylactic actions is elimination of the factors capable to cause an exacerbation of a disease (refusal of alcohol intake, prohibition of contact with toxins, etc.). Protection of skin against insolation (the closed clothes, sun-protection ointments) is necessary. Complex treatment includes use complex, vitamins of group B, lipoic, orotovy acids.