Наследственные нарушения коньюгации билирубина

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наследственных нарушений коньюгации билирубина (синдромы Жильбера и Криглера-Наджара)

[Dr.Vad]

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Unconjugated hyperbilirubinaemia is an important problem in the neonatal period. Common causes include physiological jaundice, breast milk jaundice, overproduction (that is, polycythaemia), systemic disease (congenital hypothyroidism, sepsis), and inherited disorders of bilirubin metabolism. These latter include Crigler-Najjar syndrome (CNS) types 1 and 2 caused by a deficiency of hepatic uridine diphosphate glucuronosyl transferase (UGT) and characterised by high serum levels of unconjugated bilirubin that appear in the first few days after birth and Gilbert's syndrome.
Accurate diagnosis of Crigler-Najjar syndrome is important because of the implications for prognosis and treatment. Treatment of CNS type 1 consists of the aggressive use of measures to remove bilirubin (either phototherapy or exchange transfusion), while liver transplantation is the definitive treatment. The major differentiating characteristic between the two types of Crigler-Najjar syndrome is the response to drugs that induce activity of cytochrome P450 enzymes. Phenobarbitone (phenobarbital) causes a significant decline in the serum bilirubin of patients with type 2 disease, with increased hepatic clearance of radiolabelled bilirubin and increased biliary levels of bilirubin diglucuronides. However, differentiating Crigler-Najjar syndrome type 1 from type 2 solely on the basis of response to phenobarbitone can sometimes be misleading.10 Differentiation using bile bilirubin pigment analysis has been recommended. In CNS type 1, duodenal bile is practically devoid of bilirubin conjugates. In CNS type 2, bilirubin monoglucuronides are present and some diglucuronides may be detectable during treatment with phenobarbitone. In Gilbert's syndrome, bilirubin diglucuronides are the predominant pigment.
The diagnosis of Crigler-Najjar syndrome types 1 and 2 and Gilbert's syndrome can usually be made from a combination of response to phenobarbitone, bile bilirubin pigment analysis, and genetic studies.

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Lee WS, McKiernan PJ, Beath SV, Preece MA, Baty D, Kelly DA, Burchell B, Clarke DJ.
Bile bilirubin pigment analysis in disorders of bilirubin metabolism in early infancy.
Arch Dis Child. 2001 Jul;85(1):38-42.