Ontology highlight
ABSTRACT:
SUBMITTER: Ito N
PROVIDER: S-EPMC5413770 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Ito Naoko N Ihara Kenji K Kamoda Tomohiro T Akamine Satoshi S Kamezaki Kentaro K Tsuru Noboru N Sumazaki Ryo R Hara Toshiro T
CEN case reports 20150304 2
Autosomal dominant distal renal tubular acidosis (dRTA) is a rare disorder caused by a mutation in the AE1 gene encoding the chloride-bicarbonate (Cl<sup>-</sup>/HCO<sub>3</sub><sup>-</sup>) 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 ...[more]