イトウ　ナオコ   Itou Naoko   井藤　奈央子    所属   医学部 医学科（東京女子医科大学病院）    職種   助教
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.
掲載誌名	正式名：CEN case reports 略　 称：CEN Case Rep ISSNコード：21924449/21924449
掲載区分	国外
巻・号・頁	4(2),pp.218-222
著者・共著者	Ito Naoko, Ihara Kenji, Kamoda Tomohiro, Akamine Satoshi, Kamezaki Kentaro, Tsuru Noboru, Sumazaki Ryo, Hara Toshiro
発行年月	2015/11
概要	Autosomal dominant distal renal tubular acidosis (dRTA) is a rare disorder caused by a mutation in the AE1 gene encoding the chloride-bicarbonate (Cl-/HCO3-) anion exchanger 1 (AE1). Most patients with this disorder present with clinical symptoms in adulthood and their phenotype is milder than that of those with autosomal recessive dRTA. In this report, we describe a Japanese family with autosomal dominant dRTA in which the mother and her daughter presented with severe symptoms caused by hypokalemia at 2 years of age. The heterozygous AE1 mutation G609R, which is a known causative mutation of dRTA, was identified in both patients. To our knowledge, this is the first report of a Japanese family with autosomal dominant type dRTA caused by an AE1 mutation. We, therefore, propose that alterations of AE1 should be considered causative of autosomal dominant dRTA even if typical symptoms appear during early childhood and the clinical features are severe.
DOI	10.1007/s13730-015-0172-3
PMID	28509104