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A novel heterozygous mutation in theATP6V0A4gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis

24 Mar 2016

Abstract excerpt

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...

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PMID: 27274828
DOI: 10.1093/ckj/sfw008

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