ĐẶC ĐIỂM ĐA POLYP ĐẠI TRÀNG TẠI MIỀN TRUNG, TỪ DỊCH TỄ HỌC LÂM SÀNG ĐẾN DI TRUYỀN HỌC

Trần Nguyễn Vân Nghi, Nguyễn Phước Thịnh, Đinh Thị Ý Thơ, Nguyễn Vũ Khánh, Trần Thị Kim Vân, Hoàng Lê Phúc

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Abstract

Background:


Colonic polyposis in children represents a significant clinical concern due to its potential to develop into colorectal cancer if not detected and treated timely. This study aims to shed light on the epidemiological, clinical, endoscopic, and genetic characteristics of colonic polyposis in children within the Central region of Vietnam, an area less explored in current literature.


Methods:


This descriptive study analyzed a series of cases diagnosed with colonic polyposis through endoscopy at the Danang Maternity and Pediatric Hospital from April 2023 to April 2024. Data were collected using standardized data collection forms and analyzed using Epidata and Stata 14 software.


Results:  


The study identified 7 cases of multiple colonic polyps, with an equal gender distribution and a mean age of 7-14 years. The majority (71%) of the cases belonged to ethnic minorities. The primary reason for hospital admission was red blood stool (86%), with none requiring blood transfusion. Endoscopic findings revealed that the polyps were predominantly located in the rectal region and were mostly pedunculated. Histopathologically, juvenile polyps were the most common type (83%). Genetic analysis identified mutations in the APC gene related to familial adenomatous polyposis in one case, highlighting the genetic diversity within this condition. One case of an APOB gene mutation, and one case of an HSP1 gene mutation not associated with colonic polyposis


Conclusion:


This study provides a detailed description of the epidemiological, clinical, endoscopic, and genetic features of colonic polyposis in children in Central Vietnam, predominantly identifying juvenile polyps and one case of familial adenomatous polyposis with associated gene mutations. The findings underscore the necessity for early screening and intervention strategies, as well as further research to elucidate the risk factors and mechanisms of development of colonic polyps in children from diverse geographical regions.

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