Age and gender distribution among the patients with Gilbert’s syndrome

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 ch...

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Main Authors: A. N. Volkov, E. V. Tsurkan
Format: Article
Language:Russian
Published: Kemerovo State Medical University 2021-07-01
Series:Фундаментальная и клиническая медицина
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Online Access:https://fcm.kemsmu.ru/jour/article/view/408
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author A. N. Volkov
E. V. Tsurkan
author_facet A. N. Volkov
E. V. Tsurkan
author_sort A. N. Volkov
collection DOAJ
description 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.
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spelling doaj-art-6096f1e9ee9b4e1c977c7a80bbe9fb392025-08-20T03:42:38ZrusKemerovo State Medical UniversityФундаментальная и клиническая медицина2500-07642542-09412021-07-0162758110.23946/2500-0764-2021-6-1-75-81264Age and gender distribution among the patients with Gilbert’s syndromeA. N. Volkov0E. V. Tsurkan1Kemerovo State Medical UniversityBelyaev Kuzbass Regional Clinical HospitalAim. 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.https://fcm.kemsmu.ru/jour/article/view/408gilbert's syndromeudp-glucuronosyltransferase a1ugt1a1rs8175347molecular genetic testing
spellingShingle A. N. Volkov
E. V. Tsurkan
Age and gender distribution among the patients with Gilbert’s syndrome
Фундаментальная и клиническая медицина
gilbert's syndrome
udp-glucuronosyltransferase a1
ugt1a1
rs8175347
molecular genetic testing
title Age and gender distribution among the patients with Gilbert’s syndrome
title_full Age and gender distribution among the patients with Gilbert’s syndrome
title_fullStr Age and gender distribution among the patients with Gilbert’s syndrome
title_full_unstemmed Age and gender distribution among the patients with Gilbert’s syndrome
title_short Age and gender distribution among the patients with Gilbert’s syndrome
title_sort age and gender distribution among the patients with gilbert s syndrome
topic gilbert's syndrome
udp-glucuronosyltransferase a1
ugt1a1
rs8175347
molecular genetic testing
url https://fcm.kemsmu.ru/jour/article/view/408
work_keys_str_mv AT anvolkov ageandgenderdistributionamongthepatientswithgilbertssyndrome
AT evtsurkan ageandgenderdistributionamongthepatientswithgilbertssyndrome