Article
Familial pure proximal renal tubular acidosis--a clinical and genetic study.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Apr 2008
Katzir Ze'ev, Dinour Dganit, Reznik-Wolf Haike, Nissenkorn Andrea, Holtzman Eliezer
Abstract excerpt
BACKGROUND: Inherited proximal renal tubular acidosis (pRTA) is commonly associated with more generalized proximal tubular dysfunctions and occasionally with other organ system defects. Inherited combined pRTA and distal RTA with osteopetrosis and pure pRTA associated with ocular abnormalities, a rare disease which has been recently described. Only one family with pure isolated pRTA has been reported so far and...
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