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Enzymopathic hyperbilirubinemias

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Enzymopathic hyperbilirubinemias

Enzymopathic hyperbilirubinemias (high-quality pigmental hepatoses) — the giperbilirubiiyemiya mainly at the expense of not conjugated (indirect) fraction of a bilious pigment connected with genetically caused defects of the enzymes of a liver participating in conjugation, transportation and partially — bilirubin excretion. Proceed, as a rule, it is good-quality, without rough morphological changes of a liver and the expressed hemolysis.

Not conjugated hyperbilirubinemia is rather widespread, especially among young men. In the different countries the hyperbilirubinemia is observed at 1-5% of the population.

To features of the most widespread disease of this group — Gilbert's diseases (the family not conjugated not hemolitic hyperbilirubinemia) carry a male, young age and scarcity of all-clinical manifestations.

Among not conjugated hyperbilirubinemias the bulk is made by Gilbert's illness and syndromes adjoining it. The others of hyperbilirubinemias meet very seldom (Krigler's syndromes — Nayara, the Cudgel — Johnson, the Rotor). There are no exact statistical data on the frequency of these syndromes.

At 54 men with the stable not conjugated hyperbilirubinemia, with normal indicators of other main functional tests and absence in blood serum of markers of a viral hepatitis In the puncture biopsy of a liver and all complex of necessary researches were carried out. Results of stationary inspection of these patients: Gilbert's illness — at 34 (63%), enter this number also a so-called postgepatitny hyperbilirubinemia (23 persons). At other 20 people a giperbilirubinemichesky form of chronic persistent hepatitis (perhaps, a combination of persistent hepatitis to Gilbert's illness) alcoholic hepatopathies at 5 (9,2%), reactive hepatitis (perhaps, in combination with Gilbert's illness) at 3 (5,6%) and chronic active hepatitis at 1 person (1,8%) are found in 11 people (20,4%).

Etiology and pathogeny
The disturbances of an exchange of bilious pigments proceeding with a hyperbilirubinemia can be caused by the different reasons:
1) increase in products of not conjugated pigment form generally at the expense of an increased hemolysis;
2) decrease in capture by a liver of not conjugated bilirubin from blood serum;
3) disturbance of conjugation of bilirubin in a liver;
4) a bilirubin exit from the injured hepatocyte (for example, at sharply expressed cytolysis) directly in blood;
5) disturbance of biliary secretion from a hepatocyte in a bilious capillary;
6) disturbance of circulation of bile on intra hepatic and extrahepatic bilious ways.

The first three disturbances involve increase of level in blood serum mainly nekonjyugirovaunogo bilirubin, the second three — preimushchestayenno the conjugated bilirubin form. In this chapter will be discussed generally hyperbilirubinemias, connected with the second, third and fifth reasons.

It is good-quality the current jaundices were are described for the first time in 1901 by A. Gilbert and P. Lerboullet under the name of "a simple family cholemia". In an origin of short-term, tranzitorny hyperbilirubinemias an important role is played by intoxications alcohol and drugs (sulfanamide drugs, levomycetinum, Indocidum, extract of a man's fern, etc.). Various intercurrent infections are other reason of tranzitorny hyperbilirubinemias at almost healthy people (parodontalny granulomas, an adenoid disease, etc.). Slightly more rare among the reasons there are passing disturbances of blood circulation after exercise stresses or injuries. At last, quite often the hyperbilirubinemia appears after heavy reexhaustions, and also the starvation which is carried out with the medical purpose.

Gilbert's illness belongs to the hereditary diseases which are transmitted on autosomal dominantly type. In a pathogeny of a disease play a role, first, disturbances of transport function of the proteins (a glutationtransferaza, etc.) delivering it is not conjugated - ny to a smooth endoplasmic reticulum (microsomes) of a hepatocyte and, secondly, inferiority of enzyme of microsomes of UDF-glyukuroniltransferaza by means of which conjugation (connection) of bilirubin with glucuronic and other acids is carried out.

Certain researchers pull together Gilbert's illness with option of a hemolitic illness. Against this concept absence of anemia, peculiar abnormal liver functions — in particular, the slowed-down clearance of niacin and rifampicin, and also close connection in separate families between Krigler's syndrome — Nayar and Gilbert demonstrate what speaks well for uniformity of pathology of these two states. However, some decrease in duration of a half-cycle of life of an erythrocyte still does not find an explanation.

In development of a syndrome of Lucie — Driskola the leading role is assigned to 3-a-20-pregnandiol of maternal milk blocking UDF-glyukuroniltransferaza.


I. Hyperbilirubinemias at the expense of not conjugated bilirubin.
1.1. Gilbert's illness and adjoining it a syndrome the Tracing-paper (postgepatitny option).
1.2. Krigler's syndrome — Nayara, I and II types.
1.3. Lucie's syndrome — Driskola.

2. Hyperbilirubinemias at the expense of not conjugated and conjugated bilirubin.
2.1. A syndrome the Cudgel — Johnson.
2.2. Rotor syndrome.

Approximate formulation of the diagnosis:
1. Gilbert's illness (postgepatitny option).
2. A syndrome the Cudgel — Johnson (clinically asymptomatic).

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