Siblings with congenital renal tubular acidosis and nerve deafness

Clin Genet. 1996 Oct;50(4):235-9. doi: 10.1111/j.1399-0004.1996.tb02634.x.


Two siblings (a boy and a girl) had congenital renal tubular acidosis (RTA) with nephrocalcinosis. Hearing loss due to nerve deafness was diagnosed at 13 1/2 and 9 years of age, respectively. The parents, who are second cousins, are healthy. They have another boy who is unaffected. This is in accordance with an autosomal recessive gene. The association of RTA and deafness was first noted by Royer in 1967, and so far some 50 cases have been described. The literature is reviewed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acidosis, Renal Tubular / congenital*
  • Acidosis, Renal Tubular / genetics*
  • Adolescent
  • Child
  • Consanguinity
  • Deafness / congenital
  • Deafness / genetics*
  • Female
  • France
  • Genes, Recessive
  • Humans
  • Male
  • Nuclear Family
  • Syndrome