著者

石黒 洋 山本 明子 中莖 みゆき 衣 蘭娟 石黒 真理子 山口 誠 近藤 志保 持丸 由香 Ishiguro Hiroshi Yamamoto Akiko Nakakuki Miyuki Yi Lanjuan Ishiguro Mariko Yamaguchi Makoto Kondo Shiho Mochimaru Yuka

出版者

名古屋大学総合保健体育科学センター

雑誌

総合保健体育科学 (ISSN:02895412)

巻号頁・発行日

vol.35, no.1, pp.9-15, 2012-03-30

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Excretion of hypotonic sweat by eccrine sweat gland is achieved by re-absorption of NaCl by sweat duct which is an important function to prevent the salt loss and heat prostration. The Cl– transport by sweat duct is mediated by cystic fibrosis transmembrane conductance regulator (CFTR) anion channel. CFTR is the causative gene for cystic fibrosis, an autosomal recessive genetic disease. CFTR functions as a cAMP-dependent anion channel localized in the apical membrane of various epithelia. Loss of function due to severe mutations in both alleles causes typical cystic fibrosis characterized by dehydrated, thick, and viscous luminal fluid/mucus in the respiratory and gastrointestinal tract, pancreatic duct, and vas deferens. Cystic fibrosis is the most common genetic disease in Caucasians (1 per ~3,000 births) but it is rare in the Asian population including Japanese (1 per ~1.5 million). A compound heterozygote of mutations/polymorphisms (causing a mild dysfunction of CFTR) involves a risk of developing CFTR-related diseases (or atypical cystic fibrosis) such as chronic pancreatitis and male infertility due to congenital bilateral absence of the vas deferens (CBAVD). Recent studies suggest that CFTR mutations/polymorphisms are frequently found in Japanese patients with chronic pancreatitis, CBAVD and diffuse panbronchiolitis. Cl– concentration in the sweat is a useful measure of CFTR function in human. The sweat [Cl–] in healthy subjects is correlated with ages. High levels (>60 mM) of sweat [Cl–] suggest the dysfunction of CFTR.