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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). 
 김민정  ;  강정완  ;  김규언  ;  김명준  ;  이민구  ;  손명현  ;  김경원  ;  이지현 
 Pediatric Allergy and Respiratory Disease (소아알레르기 호흡기학회지), Vol.21(1) : 61-66, 2011 
Journal Title
 Pediatric Allergy and Respiratory Disease  (소아알레르기 호흡기학회지) 
Issue Date
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.
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실)
Yonsei Authors
김경원(Kim, Kyung Won) ; 김규언(Kim, Kyu Earn) ; 김명준(Kim, Myung Joon) ; 손명현(Son, Myung Hyun) ; 이민구(Lee, Min Goo)
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