Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children

Pediatr Nephrol. 2007 Jun;22(6):825-8. doi: 10.1007/s00467-006-0417-7. Epub 2007 Jan 11.


Distal renal tubular acidosis (RTA) with nerve deafness is caused by mutations in the ATP6V1B1 gene causing defective function of the H+ -ATPase proton pump. We report five acidotic children (four males) from four unrelated families: blood pH 7.21-7.33, serum bicarbonate 10.8-14.7 mEq/l, minimum urinary pH 6.5-7.1 and fractional excretion of bicarbonate in the presence of normal bicarbonatemia 1.1-5.7%. Growth retardation and nephrocalcinosis, but not hypercalciuria, were common presenting manifestations. Hearing was normally preserved in one of the patients whose sister was severely deaf. One child was homozygous for a known mutation in exon 1: C>T (R31X). Three children were homozygous for a splicing mutation, intron 6 + 1G>A. The other patient was a compound heterozygote, having this mutation and a previously unreported mutation in exon 10: G>A (E330K). Our report shows that hearing loss is not always present in the syndrome of distal renal tubular acidosis with nerve deafness and the absence of hypercalciuria at diagnosis and describes a new mutation responsible for the disease in the ATP6V1B1 gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Renal Tubular / genetics*
  • Acidosis, Renal Tubular / pathology
  • Acidosis, Renal Tubular / physiopathology
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease*
  • Growth Disorders / genetics
  • Growth Disorders / pathology
  • Growth Disorders / physiopathology
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / pathology
  • Hearing Loss, Sensorineural / physiopathology
  • Humans
  • Infant
  • Male
  • Mutation*
  • Nephrocalcinosis / genetics
  • Nephrocalcinosis / pathology
  • Nephrocalcinosis / physiopathology
  • Polymerase Chain Reaction
  • Syndrome
  • Vacuolar Proton-Translocating ATPases / genetics*


  • ATP6V1B1 protein, human
  • Vacuolar Proton-Translocating ATPases