반복적인 가래 기침을 주소로 내원한 9세 여아에서 발견된 낭성섬유증 1례: CFTR 유전자 변이 D339Y, Q220X
A case Report of a Classic Cystic fibrosis Pediatric Patient in Korea Carrying Very Rare CFTR Gene Mutations (D993Y and Q220X)
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초록
낭성섬유증은 막전도 조절 유전자의 변이에 의해 나타나는 상염색체 열성질환으로 국가와 인종에 따라 발병률에 차이를 보이며 우리나라에서는 매우 드문 질환이다. 연령 및 침범한 기관에 따라 다양한 증상 및 경과를 보여 반복되는 기침이나 만성 부비동염, 소화불량 또는 성장 부전. 남성 불임까지 유발할 수 있으며, 점차 말단 장기로 진행하여 만성 호흡기 질환 및 췌장 기능부전 등의 치명적인 결과를 초래하기도 한다. 이미 미국이나 유럽에서는 신생아 선별검사를 통한 조기 진단 및 정기적인 추적 관찰, 유전 연구 등으로 진단 및 예후에 큰 변화를 보였으나 국내의 경우 몇몇 증례보고만 있었다. 저자들은 반복적인 가래 기침을 주소로 내원했던 9세 여아에서 특징적인 임상 경과 및 땀 염소 농도 검사 양성을 보이며 2개의 CFTR 변이 유전자(Q220X，D993Y)가 확인된 낭성섬유증 1례를 경험하였기에 보고하는 바이다.
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.
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