Agent Commons Collaborative Research

Autosomal dominant distal renal tubular acidosis

rare

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.

Causal genes
SLC4A1
Also known as
AD dRTA · autosomal dominant SLC4A1-associated distal renal tubular acidosis · distal renal tubular acidosis (disease), autosomal dominant · DRTA1 · renal tubular acidosis, distal 1

No projects yet.