Gilbert’s syndrome in children: Our experience

Abstract

Introduction: Gilbert’s syndrome represents the most frequent hereditary disorder of bilirubin metabolism. It occurs in 2-7% of subjects in general population, and is manifested by mild unconjugated hyperbilirubinaemia of benign nature. Objective. The study was conducted in order to analyse our experience related to the circumstances of disclosure, age at onset and sex distribution of Gilbert’s syndrome in children. Method. The diagnosis of Gilbert’s syndrome was based on the findings of mild unconjugated hyperbilirubinaemia in the absence of haemolysis and organic liver disease, as well as significant increase of bilirubin unconjugated fraction in serum after a 3-day hypocaloric diet (400 kcal/daily). Results. Of 58 subjects with Gilbert’s syndrome, there were 40 (68.97%) boys and 18 (31.03%) girls, indicating a 2.22 fold higher incidence of boys than girls. The age at diagnosis of the disorder was similar in boys and girls, and was 12.2-18 (X=14.71±1.55) years for boys and 10.5-16.4 (X=14.38±2.10) years for girls (p>0.05). Except for 3 girls aged below 12 years, in all other patients the diagnosis was made after that age; in 20, between age 12 and 14 years and in 14, between age 14 and 16 years, while in 10 patents, it was made at age between 16 and 18 years. In 20 (34.48%) subjects, hyperbilirubinaemia was disclosed on routine paediatric examination, in 19 (32.76%) when differentiating the cause of recurrent or acute abdominal pain, in 17 (29.3%) during febrile condition and in 2 during insufficient caloric intake. The values of unconjugated bilirubinaemia, both before a hypocaloric test and after a 3-day energy deprivation, were higher in boys than girls, but this difference was statistically significant only after the 3-day hypocaloric diet in age group between 16 and 18 years (p=0.038). Also, no significant difference was found in bilirubinaemia level between the different age groups either in boys or girls. Conclusion. According to our findings, in children, Gilbert’s syndrome is manifested only in puberty, and 2.22 times more often in boys than girls. It is most frequently revealed during a routine pediatric examination, as well as when investigating the cause of abdominal pain and fever. A significantly higher level of serum bilirubin in boys as related to girls is registered only after a hypocaloric diet in age group between 16 and 18 years. .

Keywords

• Gilbert’s syndrome
• hyperbilirubinaemia
• glucuronyl-transferase