distal renal tubular acidosis with preserved hearing (RTADR)

Pathology

• functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron
• proton transport into urine for urinary acidification is compromised
• failure of alpha-intercalated cells results in metabolic acidosis with disturbances of
  • potassium balance
  • urinary calcium solubility
  • bone physiology & growth

Genetics

• autosomal recessive
• associated with defects in ATP6V0A4 gene

More general terms

• renal tubular acidosis type I

Additional terms

• vacuolar proton translocating ATPase 116 kD subunit a, isoform 4; V-ATPase 116 kD isoform a34; vacuolar proton translocating ATPase 116 kD subunit a, kidney isoform (ATP6V0A4, ATP6N1B)

Database

• OMIM: https://mirror.omim.org/entry/208085