Доброкачественная гипербилирубинемия типа Жильбера

Abstract

INTRODUCTION: Benign hyperbilirubinemia of Gilbert type affects 10% of population, most commonly men of 20–30 years of age. In the article, description of a classic clinical case illustrating the course of Gilbert syndrome, is given. After an intercurrent infection, a 32-year old man presented with jaundice with elevation of the level of unconjugated bilirubin against the normal background level of enzymes. Bearing in mind a probability of being excluded from the flight crew, the patient agreed to the puncture biopsy of the liver, and the morphological examination of the hepatic tissue confirmed the diagnosis of benign hyperbilirubinemia of Gilbert type. A molecular genetic examination also showed the existence of tyrosine-arginine repeats in the promotor region of uridine diphosphate–glucuronosyltransferase gene. Adequately selected treatment with phenobarbital stimulating the activity of the enzyme, led to normalization of bilirubin level and to improvement of the patient’s well-being. CONCLUSION: Chronic familial non-hemolytic hyperbilirubinemias are often given insufficient attention not only due to the fact that their outcomes do not pose a serious threat to the patient’s health, and, according to the erroneous opinion, are rare, but to a larger extent due to the fact that the diagnosis presents certain difficulties for a therapist or a general practitioner.