Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey.

ABSTRACT:

Objective

Gilbert syndrome (GS) is a disease characterized by mildly elevated indirect serum bilirubin levels due to mutation in the promoter of the UGT1A1 gene, which causes a decrease in uridine diphosphate glucuronyltransferase enzyme activity. Gilbert syndrome should be considered based on clinical and laboratory findings in differential diagnosis, which can be supported by genetic analysis. This study aimed to evaluate the clinical findings and UGT1A1 mutations of children with Gilbert syndrome.

Materials and methods

Patients who were admitted to the pediatric gastroenterology clinic and who were considered to have Gilbert syndrome based on clinical and laboratory findings were included in the study. The UGT1A1 analysis was performed by Sanger sequence analysis.

Resu

SUBMITTER: Cagan Appak Y 

PROVIDER: S-EPMC9131810 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature