Preview

Fundamental and Clinical Medicine

Advanced search

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

https://doi.org/10.23946/2500-0764-2021-6-1-75-81

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. 

About the Authors

A. N. Volkov
Kemerovo State Medical University
Russian Federation

PhD, Associate Professor, Department of Biology, Genetics and Parasitology; Senior Research Fellow, Central Research
Laboratory,

22a, Voroshilova Street, Kemerovo, 650056



E. V. Tsurkan
Belyaev Kuzbass Regional Clinical Hospital
Russian Federation

Biologist, 

22, Oktyabrskiy Prospekt, Kemerovo, 650066



References

1. Huang M-J, Chen Y-C, Huang Y-Y, Yang S-S, Chen P-L, Huang C-S. Effect of UDP-glucuronosyltransferase 1A1 activity on risk for developing Gilbert's syndrome. Kaohsiung J Med Sci. 2019;35:432- 439. https://doi.org/10.1002/kjm2.12077.

2. Волков А.Н., Цуркан Е.В. Мутация гена UGT1A1 как маркер высокого риска возникновения синдрома Жильбера: научно-прикладные аспекты. Анализ риска здоровью. 2019;2:123-129. https://doi.org/10.21668/health.risk/2019.2.14

3. Memon N. Inherited disorders of bilirubin clearance. Pediatr Res. 2016;79(3):378-386. https://doi.org/10.1038/pr.2015.247

4. Strassburg CP. Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). Best Practice & Research Clinical Gastroenterology, 2010;24(5):555-571. https://doi.org/10.1016/j.bpg.2010.07.007

5. Дубровина Г.М., Ботвиньев О.К., Колотилина А.И. Сочетание синдрома Жильбера с заболеваниями желудочно-кишечного тракта. Российский журнал гастроэнтерологии, гепатологии, колопроктологии. 2014;24(3):13-21.

6. Ботвиньев О.К., Дубровина Г.М., Колотилина А.И. Поражение отделов желудочно-кишечного тракта у детей с синдромом Жильбера. Российский вестник перинатологии и педиатрии. 2015;60(3):104-107.

7. Buch S, Schafmayer C, Völzke H, Seeger M, Miquel JF, Sookoian SC, Egberts JH, Arlt A, Pirola CJ, Lerch MM, John U, Franke A, von Kampen O, Brosch M, Nothnagel M, Kratzer W, Boehm BO, Bröring DC, Schreiber S, Krawczak M, Hampe J. Loci from a genome-wide analysis of bilirubin levels are associated with gallstone risk and composition. Gastroenterology. 2010;139(6):1942-1951.e2. https://doi.org/10.1053/j.gastro.2010.09.003

8. Курилович С.А., Немцова Е.Г., Кручинина М.В., Максимов В.Н. Особенности синдрома Жильбера у больных с различными генотипами UGT1A1. Экспериментальная и клиническая гастроэнтерология. 2016;133(9):32-37.

9. Yueh MF, Chen S, Nguyen N, Tukey RH. Developmental, Genetic, Dietary, and Xenobiotic Influences on Neonatal Hyperbilirubinemia. Mol Pharmacol. 2017;91(5):545-553. https://doi.org/10.1124/mol.116.107524

10. Kringen MK, Piehler AP, Grimholt RM, Opdal MS, Haug KB, Urdal P. Serum bilirubin concentration in healthy adult North-Europeans is strictly controlled by the UGT1A1 TA-repeat variants. PLoS One. 2014;9(2):e90248. https://doi.org/10.1371/journal.pone.0090248

11. Волков А.Н. Популяционно-генетическое исследование мутации гена UGT1A1, ассоциированной со сниженной функцией печеночной УДФ-глюкуронилтрансферазы А1. Фундаментальная и клиническая медицина. 2020;5(3):59-65. https://doi.org/10.23946/2500-0764-2020-5-3-59-65

12. Тимошкина Н.Н., Богомолова О.А., Жужеленко И.А., Кабанов С.Н., Калабанова Е.А., Миташок И.С., Светицкая Я.В., Водолажский Д.И. Исследование полиморфизмов генов UGT1A1 и DPYD у пациентов с колоректальным раком. Сибирский онкологический журнал. 2018;17(6):49-56 https://doi.org/10.21294/1814-4861-2018-17-6-49-56

13. Делягин В.М., Уразбагамбетов А.У. Медицинское сопровождение пациентов с семейными доброкачественными гипербилирубинемиями. Русский медицинский журнал. 2008.16(18):1194-1198.

14. Волков А.Н., Хабиева С.М., Смирнова Е.Ю. Генодиагностика мутаций UGT1A1 в практике современной медицины. Клиническая лабораторная диагностика. 2018;63(3):186-192. https://doi.org/10.18821/0869-2084-2018-63-3-186-192.

15. Захарова И.Н., Пыков М.И., Калоева З.В., Катаева Л.А., Шишкина С.В., Бережная И.В. Апостериорная ценность клинических и лабораторных проявлений синдрома Жильбера у детей. Педиатрическая фармакология. 2011;8(4):101-104.


Review

For citations:


Volkov A.N., Tsurkan E.V. Age and gender distribution among the patients with Gilbert’s syndrome. Fundamental and Clinical Medicine. 2021;6(2):75-81. (In Russ.) https://doi.org/10.23946/2500-0764-2021-6-1-75-81

Views: 399


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2500-0764 (Print)
ISSN 2542-0941 (Online)