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01.01.2008 | Brief Report

Report of a family with two different hereditary diseases leading to early nephrocalcinosis

verfasst von: Rosa Vargas-Poussou, Pierre Cochat, Nelly Le Pottier, Isabelle Roncelin, Aurelia Liutkus, Anne Blanchard, Xavier Jeunemaître

Erschienen in: Pediatric Nephrology | Ausgabe 1/2008

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Abstract

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 rickets with hypercalciuria (HHRH) and antenatal Bartter syndrome. In this paper, we describe two girls from consanguineous parents with early onset nephrocalcinosis. Based on both clinical and biochemical assessment in combination with molecular genetics, we have shown that the etiology of nephrocalcinosis is different in each girl: one had FHHNC and her sister had dRTA.

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Titel: Report of a family with two different hereditary diseases leading to early nephrocalcinosis
verfasst von: Rosa Vargas-Poussou
Pierre Cochat
Nelly Le Pottier
Isabelle Roncelin
Aurelia Liutkus
Anne Blanchard
Xavier Jeunemaître
Publikationsdatum: 01.01.2008
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 1/2008
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-007-0584-1

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