Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Distal renal tubular acidosis (autosomal recessive)

Autosomal recessive distal renal tubular acidosis is caused by mutations of the ATP6V0A4 gene. It is not typically associated with deafness thought hearing loss does not exclude this disease.

Systematic

Renal tubular acidosis
Combined renal tubular acidosis 3 with osteopetrosis 3
Distal renal tubular acidosis (autosomal dominant)
Distal renal tubular acidosis (autosomal recessive)
ATP6V0A4
Distal renal tubular acidosis with deafness (autosomal recessive)
Proximal renal tubular acidosis
Renal tubular acidosis with arthrogryposis

References:

1.

Stover EH et. al. (2002) Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

[^]
2.

Karet FE et. al. (1998) Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.

[^]
3.

Karet FE et. al. (1999) Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.

[^]
4.

Smith AN et. al. (2000) Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.

[^]
5.

None (1964) SOME OBSERVATIONS OF RENAL TUBULAR ACIDOSIS--A FAMILY STUDY.

[^]
Update: Sept. 26, 2018