[Gilbert's syndrome: a clinicogenetic trial]

Area of Science:

• Medical Genetics
• Hepatology
• Clinical Diagnostics

Background:

• Gilbert's syndrome (GS) is a common genetic disorder affecting bilirubin metabolism.
• Accurate diagnosis of GS is crucial for differentiating it from other liver conditions.

Purpose of the Study:

• To enhance the diagnostic accuracy of Gilbert's syndrome (GS).
• To integrate functional and genetic examination methods for improved GS detection.

Main Methods:

• Diagnosis of GS in 88 patients (aged 15-72) using clinical and genetic testing.
• Genotyping focused on the promoter region of the uridinediphosphateglucuroniltransferase gene.

Main Results:

• Genetic analysis identified variations in the uridinediphosphateglucuroniltransferase gene promoter.
• Homozygous carriers exhibited higher baseline bilirubin and distinct functional test responses, often with essential tremor.
• Heterozygous patients frequently presented with latent GS.

Conclusions:

• Four clinical variants of GS identified: dyspeptic, asthenovegetative, jaundice, and latent.
• A low-caloric diet followed by phenobarbital improved test sensitivity and specificity.
• Proposed clinical classification of GS and identified pharmacokinetic alterations for predicting adverse drug reactions.