Catalog
Familial pure proximal renal tubular acidosis
No MMS code
Link to WHO Definition
Familial pure proximal renal tubular acidosis – http://id.who.int/icd/entity/1967853023
This is a rare, inherited type of renal tubular acidosis caused by a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent increased acidity of the blood (acidemia).