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Abstract
Diagnosis of functional hyperbilirubinemia causes certain difficulties for a practitioner. It is common for patients with hereditary features of bilirubin metabolism to be treated for a long time because of unreasonably and incorrectly diagnosed chronic hepatitis or hemolytic jaundice.
The most common variant of functional hyperbilirubinemia is Gilbert’s syndrome. At the molecular level, the defect is localized in one of 5 exons (1A–5) of the gene for uridine diphosphate glucuronyl transferase (UDPGT) 1*1. The genetic defect presupposes an additional dinucleotide TA on the A(TA)6TAA promoter section of the gene encoding UDPGT, i.e. section A(TA)7TAA appears. The type of inheritance is autosomal dominant. In Gilbert’s syndrome, the seizure, transport and conjugation of bilirubin are impaired. There is a deficiency of bilitranslocase, which is responsible for the capture of bilirubin from the blood and its transport to the hepatocyte; deficiency of Y- and Z-protein ligands (glutathione-S-transferase enzyme), which are responsible for the transfer of bilirubin to microsomes; deficiency of UDPGT, which ensures the transfer of glucuronic acid to bilirubin.
Patients with Gilbert’s syndrome have an increased incidence of gallstone disease. We observed a biliary sludge in 42.3% of cases of Gilbert’s syndrome. Moreover, it is the biliary sludge in Gilbert’s syndrome that increases the risk of recurrent pancreatic attacks, which, according to our data, occur in a third of cases. In this regard, we emphasize the need for prophylactic prescription of ursodeoxycholic acid (UDCA) in this pathology. Treatment of Gilbert’s syndrome with UDCA seems promising from another point of view. UDCA, like rifampicin, increases the expression of MRP3 (multidrug-resistance protein 3) on the basolateral membrane of the hepatocyte, which contributes to the normalization of bilirubin in adults and newborns.
We believe that long-term regular courses of UDCA are required in the presence of biliary sludge to prevent pancreatitis, e.g. 3 months at a dose of 10 mg/kg every six months.
One of the best UDCA drugs that we use in practice is Ursonost (Organosyn LTD).
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