Genotype-phenotype correlation in children with adenomatous polyposis syndrome
https://doi.org/10.33878/2073-7556-2024-23-3-79-86
Abstract
AIM: to identify the genotype-phenotype correlation in children with familial adenomatous polyposis (FAP) and to assess the risk of surgery.
PATIENTS AND METODS: a retrospective study included children with FAP from January 2000 to December 2023. For analysis they were divided in two groups (“severe” and “non-severe” genotype) according to the results of the genetics.
RESULTS: forty-two patients from 36 families with FAP were included in the study. Statistical analysis revealed that the mean age at the time of surgery was significantly different and was 13 ± 4 years in the “severe” genotype group vs. 16 ± 1 in the “non-severe” group (p = 0.04). The age of first colonoscopy (OR: 0.74, 95 % CI: 0.53–0.94, р = 0.03) and the carpeting of polyps (OR: 8.06, 95 % CI: 1.71–81.1, р = 0.04) were significantly associated with severe genotype.
CONCLUSION: the “severe” genotype is characterized by earlier onset of the disease and age of colonoscopy, of polyps carpeting.
About the Authors
L. R. Khabibullina
Clinical Hospital Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Linara R. Khabibullina
119571; Leninsky Ave., 117; Moscow
O. V. Shcherbakova
Clinical Hospital Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Olga V. Shcherbakova
119571; Leninsky Ave., 117; Moscow
V. P. Shubin
Ryzhikh National Medical Research Center of Coloproctology
Russian Federation
Russian Federation
123423; Salyama Adilya st., 2; Moscow
A. Yu. Razumovsky
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Alexander Yu. Razumovsky
117513; Ostrovityanova st., 1; Moscow
A. S. Tsukanov
Ryzhikh National Medical Research Center of Coloproctology
Russian Federation
Russian Federation
Alexey S. Tsukanov
123423; Salyama Adilya st., 2; Moscow
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Review
For citations:
Khabibullina L.R., Shcherbakova O.V., Shubin V.P., Razumovsky A.Yu., Tsukanov A.S. Genotype-phenotype correlation in children with adenomatous polyposis syndrome. Koloproktologia. 2024;23(3):79-86. https://doi.org/10.33878/2073-7556-2024-23-3-79-86
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