/autosomal dominant distal renal tubular acidosis

autosomal dominant distal renal tubular acidosis

Rare Disease

MONDO:0008368

Also Known As

AD dRTADRTA1RTA, classic typeRTA, distal type, autosomal dominantRTA, gradient typedistal renal tubular acidosis (disease), autosomal dominantrenal tubular acidosis, distal 1autosomal dominant SLC4A1-associated distal renal tubular acidosis

Definition

A distal renal tubular acidosis that is caused by the mutation in SLC4A1 gene and follows the autosomal dominant inheritance. It is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, nephrolithiasis, and metabolic bone disease.