Renal tubular acidosis and nerve deafness.
Two brothers are described with renal tubular acidosis and nerve deafness: the elder also had rickets and hypokalaemia. The parents were unaffected. Studies of urinary acidification and bicarbonate excretion were consistent with a distal tubular abnormality. This report strengthens the view previously proposed in similar cases that nerve deafness and renal tubular acidosis constitute a genetic entity. Examination for nerve deafness is indicated in any child with renal tubular acidosis.
D000141:Acidosis, Renal Tubular / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D007677:Kidney Function Tests; D008297:Male; D010375:Pedigree; D012279:Rickets / Q000209:etiology