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Autosomal recessive distal renal tubular acidosis

rare

The autosomal recessive form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.

Identifiers
MONDO:0018440 Orphanet:402041
Part of
Autosomal recessive diseaseInherited distal renal tubular acidosis
Also known as
AR dRTA · autosomal recessive distal renal tubular acidosis (disease) · autosomal recessive distal RTA · distal renal tubular acidosis (disease), autosomal recessive

Subtypes

All diseases Rare only
Disease Subtypes
Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
Renal tubular acidosis, distal, 4, with hemolytic anemia

Rare disease

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