Gilbert's syndrome (UGT1A1 gene)

Gilbert's syndrome is a hereditary disease characterized by an increase in bilirubin levels in the blood. The increase in bilirubin levels is due to the presence or absence of functional activity of the enzyme UDP-glucuronosyltransferase 1 in liver hepatocytes.

Gilbert's syndrome is considered a variant of the norm and does not require ongoing treatment. Timely differential diagnosis can save the patient from taking drugs that have a toxic effect on the liver, help to correct the lifestyle, achieve complete disappearance of discomfort caused by hyperbilirubinemia.

To confirm the diagnosis of Gilbert's syndrome, you can use DNA diagnostics:

Suspicion of Gilbert's syndrome.
Differential diagnosis of hyperbilirubinemia
Mild non-infectious jaundice.
When the patient has chronic jaundice, relieved by barbiturates.
Burdened family history (noninfectious jaundice, hyperbilirubinemia).
Possible genotypes:

• UGT1A1 (TA)6/(TA)6 is a genotype unrelated to the development of Gilbert's syndrome.
  
• UGT1A1 (TA)6/(TA)7 – the genotype, characterized by an increase in TA repeats in the gene in a
• heterozygous state, is associated with the risk of developing Gilbert's syndrome.
  
• UGT1A1 (TA)7/(TA)7 is a genotype characterized by an increase in TA repeats in the gene in a homozygous state, associated with the risk of developing Gilbert's syndrome.