Abstract
Aim. To analyze age and gender distribution in patients with Gilbert's syndrome.Materials and Methods. We consecutively recruited 115 patients with Gilbert's syndrome. All patients underwent genotyping of the rs8175347 polymorphism within the UGT1A1 gene using allele-specific polymerase chain reaction to confirm the diagnosis.Results. The age of initial diagnosis ranged from 3 years to 71 years, with the majority (44.3%) of cases detected ≤ 20 years of age. Mean ± standard error and median age of the diagnosis were 30.03 ± 1.72 years and 23 years. Despite the proportion of females and males among patients was similar, age distribution at primary diagnosis was significantly different across the genders. In women, Gilbert's syndrome was most frequently detected between 11 and 20 years (23.1%) and between 51 and 60 years (19.2%). In contrast, male adolescents were more prone to the development of Gilbert's syndrome, as 47.6% of male patients belonged to this age category.Conclusions. Variable age of Gilbert's syndrome diagnosis is probably determined by an individual combination of genetic causes (e.g., mutation of the UGT1A1 gene) and additional risk factors. Adolescents compose a significant proportion of patients. Because of relatively mild disease in many patients and unpredictability of the provoking factors, primary detection of Gilbert's syndrome can be delayed. Differences in age of Gilbert's syndrome diagnosis across the genders can be partially explained by organizational reasons associated with the current screening programs.
Highlights
Variable age of Gilbert's syndrome diagnosis is probably determined by an individual combination of genetic causes and additional risk factors
Differences in age of Gilbert's syndrome diagnosis across the genders can be partially explained by organizational reasons associated with the current screening programs
Все пациенты мужского пола были не старше 60 лет, при этом 47,6 % из них имели возраст 11-20 лет
Summary
Variable age of Gilbert's syndrome diagnosis is probably determined by an individual combination of genetic causes (e.g., mutation of the UGT1A1 gene) and additional risk factors. Аллель *1 (6 ТА-повторов в промоторной области UGT1A) считается непатогенным вариантом гена, аллель *28 (7 ТА-повторов) является мутантным, в гомозиготном состоянии он ассоциирован с синдромом Жильбера. Возраст первичной постановки диагноза варьировал в пределах от 3 лет до 71 года (таблица 1). При этом 44,3 % обследованных имели возраст до 20 лет (рисунок 1).
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