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반복적인 가래 기침을 주소로 내원한 9세 여아에서 발견된 낭성섬유증 1례: CFTR 유전자 변이 D339Y, Q220X

Other Titles
 A case Report of a Classic Cystic fibrosis Pediatric Patient in Korea Carrying Very Rare CFTR Gene Mutations (D993Y and Q220X). 
Authors
 김민정  ;  강정완  ;  이지현  ;  김경원  ;  손명현  ;  이민구  ;  김명준  ;  김규언 
Citation
 Pediatric Allergy and Respiratory Disease (소아알레르기 호흡기학회지), Vol.21(1) : 61-66, 2011 
Journal Title
Pediatric Allergy and Respiratory Disease(소아알레르기 호흡기학회지)
ISSN
 1225-679x 
Issue Date
2011
Keywords
Cystic fibrosis ; CFTR gene mutation ; Korea
Abstract
Cystic fibrosis is the most common autosomal recessive disease in Caucasian. Cystic fibrosis is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations that lead to dysfunction of chloride ion channel regulations in the epithelium. Cystic fibrosis can affect multiple organ functions, resulting in various signs and symptoms. Typically, chronic airway infection, maldigestion, failure to thrive, and male infertility can occur. There are approximately 1800 CFTR gene mutations which have been identified thus far. However, there are only a few types of mutations reported in Korea because the prevalence of the disease is different among ethnicitiess and nations. Despite its rarity, reports of CFTR mutations or diagnosed patients on the rise. Therefore, we have to detect better outcomes as early as possible based on a precise understanding of the disease entity. We report a 9-year-old girl carrying D339Y and Q220X gene mutations, as the first case report of a D339Y mutation in Korea.
Files in This Item:
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Kyung Won(김경원) ORCID logo https://orcid.org/0000-0003-4529-6135
Kim, Kyu Earn(김규언)
Kim, Myung Joon(김명준) ORCID logo https://orcid.org/0000-0002-4608-0275
Sohn, Myung Hyun(손명현) ORCID logo https://orcid.org/0000-0002-2478-487X
Lee, Min Goo(이민구) ORCID logo https://orcid.org/0000-0001-7436-012X
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/92896
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