/autosomal recessive distal renal tubular acidosis

autosomal recessive distal renal tubular acidosis

Rare Disease

MONDO:0018440

Also Known As

AR dRTAautosomal recessive distal RTAautosomal recessive distal renal tubular acidosis (disease)distal renal tubular acidosis (disease), autosomal recessive

Definition

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.