Ontology highlight
ABSTRACT:
SUBMITTER: Imai E
PROVIDER: S-EPMC4886904 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Imai Eri E Kaneko Shuzo S Mori Takayasu T Okado Tomokazu T Uchida Shinichi S Tsukamoto Yusuke Y
Clinical kidney journal 20160324 3
A 40-year-old Japanese man who had a medical history of hypokalemic periodic paralysis 4 months prior was hospitalized to undergo a cholecystectomy. Hypokalemia, nephrocalcinosis and alkaluria suggesting distal renal tubular acidosis (dRTA) were detected, but metabolic acidosis was not evident. An ammonium chloride/furosemide-fludrocortisone/bicarbonate loading test demonstrated a remarkable disability in urinary H(+) excretion. A novel heterozygous mutation in the ATP6V0A4 gene encoding the vac ...[more]