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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Acknowledgment
This work was supported by the GIS Institute (Grant GIS Rare Diseases). We would like to thank the patients and their family, without whom this study would not have been possible.
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Vargas-Poussou, R., Cochat, P., Le Pottier, N. et al. Report of a family with two different hereditary diseases leading to early nephrocalcinosis. Pediatr Nephrol 23, 149–153 (2008). https://doi.org/10.1007/s00467-007-0584-1
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DOI: https://doi.org/10.1007/s00467-007-0584-1