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Sık Görülen Pediatrik Gastrointestinal Sistem Hastalıklarına Genetik Yaklaşım.

Authors :
ATAMAN, Esra
ERÇAL, Murat Derya
Source :
Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi. 2016, Vol. 25 Issue 3, p159-173. 15p.
Publication Year :
2016

Abstract

Gastrointestinal system diseases significantly affect physical and emotional development of child and vary from simple absorbsion disturbance to severe malabsorbsion. Early diagnosis and treatment play important role because direct affect of these diseases on growth development. Many of these diseases damage enterocytes, enteric nerve system cells, smooth muscle cells (myocytes) or interstitial Cajal cells (ICCs). Gastrointestinal system diseases usually have multifactorial and polygenic inheritance except some diseases such as cystic fibrosis and familial polyposis coli. Recent years, new genetic methods, next generation sequencing and exom sequencing, have started to illuminate genetic etiology of polygenic diseases. Inherited diseases related chronical problems in childhood period are important because of many of them require hospitalization. Genetic tests may help to certain diagnosis and prediction of the clinical problems of an inherited disease. Recently, many medical therapy options have been tried according to genetic etiology. In next years, when genetic etiology of gastrointestinal diseases explore, personalised medical therapy might be performed. In this review we aimed to update information about frequently seen pediatric gastrointaestinal diseases and genetics reasons of these diseases which are heterogenous and multifactorial. By this way, some informations were given for planning some gene panels which can be beneficial for diagnosis, and useful notions were emphasized for genetic counselling. [ABSTRACT FROM AUTHOR]

Details

Language :
Turkish
ISSN :
13000381
Volume :
25
Issue :
3
Database :
Academic Search Index
Journal :
Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi
Publication Type :
Academic Journal
Accession number :
119522487
Full Text :
https://doi.org/10.5336/pediatr.2015-44876