Article
Report of a family with two different hereditary diseases leading to early nephrocalcinosis.
Pediatric nephrology (Berlin, Germany) - 1 Jan 2008
Vargas-Poussou Rosa, Cochat Pierre, Le Pottier Nelly, Roncelin Isabelle, Liutkus Aurelia, Blanchard Anne, Jeunemaître Xavier
Abstract excerpt
The etiologies of early onset nephrocalcinosis in consanguineous families include five major inherited recessive disorders: primary hyperoxaluria (PH), familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), distal renal tubular acidosis (dRTA), hereditary hypophosphatemic ricke...
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