Nephrolithiasis/osteoporosis, hypophosphatemic

Definition:

Nephrolithiasis/osteoporosis, hypophosphatemic is a genetically heterologous group of disorders characterized by the formation of renal calcium stones or bone demineralization due to impaired renal phosphate reabsorption. It is caused by either mutations in NPT2A, a sodium-phosphate cotransporter expressed in kidney and polarized osteoclasts, or in sodium-hydrogen exchanger regulatory factor (NHERF)1, that controls renal phosphate transport by trafficking NPT2A.

References:

[1]. Amir S Alizadeh Naderi, et al. Hereditary disorders of renal phosphate wasting. Nat Rev Nephrol. 2010 Nov;6(11):657-65. [Content Brief]

[2]. Dominique Prié, et al. Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med. 2002 Sep 26;347(13):983-91. [Content Brief]

[3]. Dominique Prié, et al. Sodium-phosphate cotransporters, nephrolithiasis and bone demineralization. Curr Opin Nephrol Hypertens. 2004 Nov;13(6):675-81. [Content Brief]

[4]. Zoubida Karim, et al. NHERF1 mutations and responsiveness of renal parathyroid hormone. N Engl J Med. 2008 Sep 11;359(11):1128-35. [Content Brief]

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