[Distal renal tubular acidosis with nerve deafness].
The Authors describe a case of renal tubular acidosis (type I or distal type) with neural deafness in a male child. The condition is inherited as an autosomal recessive trait. Addition of NaHCO3 and potassium to diet allowed normal growth without sequelae. Speech development was retarded because of the neurosensorial deafness, partially corrected by hearing aids.
D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000235:genetics; D001639:Bicarbonates / Q000627:therapeutic use; D003638:Deafness / Q000150:complications* / Q000235:genetics / Q000534:rehabilitation; D006801:Humans; D007223:Infant; D008297:Male; D009397:Nephrocalcinosis / Q000209:etiology / Q000235:genetics; D010375:Pedigree
D001639:Bicarbonates
Acidosi tubulare renale distale con sordità nervosa.