Population genetic research of the mutation in ugt1a1 gene associated with reduced activity of liver UDP-glucuronosyltransferase A1

Volkov, Alexey N.

doi:10.23946/2500-0764-2020-5-3-59-65

Cited by 2 publications

(1 citation statement)

References 18 publications

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“…Увеличение их до 7 (структура тандемных повторов в референтной последовательности: a-(TA)7-taa) (аллель *28) или 8 (a-(TA)8-taa) (аллель *37)) приводит к снижению экспрессии гена UGT1A1 и снижению функциональной активности глюкуронилтрансферазы. Частота встречаемости данного синдрома составляет 3-10 % и отличается в различных этнических популяциях [4][5][6].…”

Section: педиатрия / Pediatricsunclassified

Clinical case of combined genetic pathology in a child with jaundice syndrome

Krylova,

Malyavskaya,

Levitskyi

et al. 2023

Transl. med. (Print)

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Diagnosis of a combined genetic pathology that occurs with jaundice syndrome is a difficult task, because of common clinical manifestations for several diseases having different genesis and requiring specific diagnosis and treatment tactics. Icteric staining of the skin due to hyperbilirubinemia at any age requires immediate examination to establish its genesis and differential diagnosis between infectious and non-infectious diseases. The spectrum of diseases accompanied by jaundice syndrome includes more than 50 different diseases. The main mechanisms of suprahepatic jaundice are: firstly, a violation of the capture and glucuronidation of bilirubin in the liver, and secondly, an increased destruction of red blood cells due to hemolysis or during the disposal of blood during internal bleeding. The first mechanism is realized in Gilbert’s syndrome, while the second mechanism of suprahepatic jaundice is often due to hemolytic anemia.In presented clinical case, the implementation of two pathogenetic forms of jaundice in one patient is shown — suprahepatic, caused by type 2 hereditary stomatocytosis and Gilbert’s syndrome, as well as obstructive jaundice, caused by cholelithiasis. The special attention should be paid to precise patient examination, if disease manifestations are not consistent with classical clinical picture. The use of a new generation sequencing method, along with traditional diagnostics methods, made it possible to establish an accurate diagnosis and determine the tactics of patient management.

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Section: педиатрия / Pediatricsunclassified

Clinical case of combined genetic pathology in a child with jaundice syndrome

Krylova,

Malyavskaya,

Levitskyi

et al. 2023

Transl. med. (Print)

View full text Add to dashboard Cite

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

Volkov

Tsurkan²

2021

Fundamentalʹnaâ i kliničeskaâ medicina

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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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Population genetic research of the mutation in ugt1a1 gene associated with reduced activity of liver UDP-glucuronosyltransferase A1

Cited by 2 publications

References 18 publications

Clinical case of combined genetic pathology in a child with jaundice syndrome

Clinical case of combined genetic pathology in a child with jaundice syndrome

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

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