井藤　奈央子    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Assistant Professor
Article types	Case report
Language	English
Peer review	Peer reviewed
Title	Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.
Journal	Formal name：CEN case reports Abbreviation：CEN Case Rep ISSN code：21924449/21924449
Domestic / Foregin	Foregin
Volume, Issue, Page	4(2),pp.218-222
Author and coauthor	Ito Naoko, Ihara Kenji, Kamoda Tomohiro, Akamine Satoshi, Kamezaki Kentaro, Tsuru Noboru, Sumazaki Ryo, Hara Toshiro
Publication date	2015/11
Summary	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