Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.

doi:10.1016/j.bone.2012.02.015

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Article

Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.

Bone - 1 May 2012

Yu Y, Sanderson S R, Reyes M, Sharma A, Dunbar N, Srivastava T, Jüppner H, Bergwitz C

Abstract excerpt

Homozygous and compound heterozygous mutations in SLC34A3, the gene encoding the sodium-dependent co-transporter NaPi-IIc, cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a disorder characterized by renal phosphate-wasting resulting in hypophosphatemia, elevated 1,25(OH)(2) vitamin D levels, hypercalciuria, rickets/osteomalacia, and frequently kidney stones or nephrocalcinosis. Similar...

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PMID: 22387237
DOI: 10.1016/j.bone.2012.02.015
PMCID: PMC3322249

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