Familial renal tubular acidosis: Report of two cases from a single family

Abstract

Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, as a result of which the person′s blood remains very acidic. Without proper treatment, chronic acidity of the blood leads to chronic kidney disease, kidney stones, metabolic bone disease, and growth failure. These are relatively rare inherited renal tubular disorders. We report two cases from a single family with distal RTA (dRTA) or Type 1 RTA presenting with varied clinical manifestations. Sensorineural deafness, which is rarely associated with dRTA, was present in the elder sibling.