title: Report of a family with two different hereditary diseases leading to early nephrocalcinosis.
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.
authors: Département de Pédiatrie Médicale et Faculté de Médecine et de Pharmacie Rouen, Centre Hospitalier Universitaire de Rouen, Rouen, France. rosa.vargas@egp.aphp.fr
authors: Rosa
authors: R
authors: Vargas-Poussou
authors: Pierre
authors: P
authors: Cochat
authors: Nelly
authors: N
authors: Le Pottier
authors: Isabelle
authors: I
authors: Roncelin
authors: Aurelia
authors: A
authors: Liutkus
authors: Anne
authors: A
authors: Blanchard
authors: Xavier
authors: X
authors: Jeunemaître
mesh_terms: D000141:Acidosis, Renal Tubular / Q000235:genetics; D057167:Claudins; D005260:Female; D006239:Haplotypes; D006801:Humans; D053565:Hypercalciuria / Q000235:genetics; D006959:Hyperoxaluria / Q000235:genetics; D007223:Infant; D008274:Magnesium / Q000097:blood; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D009397:Nephrocalcinosis / Q000235:genetics*; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics
chemical_list: C509766:ATP6V1B1 protein, human; D057167:Claudins; D008565:Membrane Proteins; C502010:claudin 16; D025262:Vacuolar Proton-Translocating ATPases; D008274:Magnesium