Report of a family with two different hereditary diseases leading to early nephrocalcinosis.
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.
Vargas-Poussou
Rosa
R
Département de Pédiatrie Médicale et Faculté de Médecine et de Pharmacie Rouen, Centre Hospitalier Universitaire de Rouen, Rouen, France. rosa.vargas@egp.aphp.fr
Cochat
Pierre
P
Le Pottier
Nelly
N
Roncelin
Isabelle
I
Liutkus
Aurelia
A
Blanchard
Anne
A
Jeunemaître
Xavier
X
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
C509766:ATP6V1B1 protein, human; D057167:Claudins; D008565:Membrane Proteins; C502010:claudin 16; D025262:Vacuolar Proton-Translocating ATPases; D008274:Magnesium