The syndrome of renal tubular acidosis with nerve deafness.
Two brothers with renal tubular acidosis and nerve deafness are described. Studies of the physiopathological characteristics of the renal acidification defect show that the defect is limited to the distal tubule. Renal tubular acidosis with nerve deafness is a distinct nosologic entity that is determined by an autosomal recessive trait.
D000141:Acidosis, Renal Tubular / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009397:Nephrocalcinosis / Q000235:genetics; D010375:Pedigree; D013577:Syndrome