Home                  Statistics                  Submission                  Feedback                  Help                  Contact Us   

   Renal Disorders:

 

Distal renal tubular acidosis ( MIM: 179800)

Distal renal tubular acidosis caused by mutation in the SLC4A1 gene is an autosomal dominant disorder characterized by nephrocalcinosis, fixed urinary specific gravity, fixed urinary pH of about 5.0, high serum chloride, low serum bicarbonate, osteomalacia, and hypocalcemia.