セキ　マサフミ   SEK Masafumi   関　雅文    所属   埼玉医科大学  医学部 国際医療センター　感染症科・感染制御科    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読なし
表題	Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan.
掲載誌名	正式名：Internal medicine (Tokyo, Japan) ISSNコード：09182918
巻・号・頁	48(15),1327-31頁
著者・共著者	Koichi Izumikawa,Yumiko Tomiyama,Hiroshi Ishimoto,Noriho Sakamoto,Yoshifumi Imamura,Masafumi Seki,Toyomitsu Sawai,Hiroshi Kakeya,Yoshihiro Yamamoto,Katsunori Yanagihara,Hiroshi Mukae,Kunihiko Yoshimura,Shigeru Kohno
発行年月	2009
概要	Cystic fibrosis (CF), the most common lethal hereditary disorder in Caucasians, is quite rare in Southeast Asia including Japan. Here, we report three CF cases encountered in Nagasaki, Japan. Case 1; a 24-year-old man with dyspnea and cough was diagnosed as CF with a missense mutation Q98R in exon 4 and a polymorphic 125C in exon 1 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Case 2; a 13-year-old woman born of consanguineous parents was diagnosed as CF with homozygous Q98R mutations in exon 4. Case 3; a 29-year-old woman complaining of cough and sputum was diagnosed as CF with a heterozygous R347H mutation in exon 7 and a polymorphic 125C in exon 1. These mutations have been previously reported in Caucasian patients, but are considered very rare. Although the numbers of individuals with CF are very limited, the profiles of CFTR mutations in those patients are likely diverse in Japan.
DOI	10.2169/internalmedicine.48.2078
NAID	130000121964
PMID	19652440