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Article

Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.

Hormone research in paediatrics - 1 Jan 2014

Abe Yuki, Nagasaki Keisuke, Watanabe Toru, Abe Tokinari, Fukami Maki

Abstract excerpt

BACKGROUND: Mutations in SLC34A3 have been shown to cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Patients with compound heterozygous or homozygous mutations develop skeletal lesions in addition to hypercalciuria, hypophosphatemia and/or elevated 1,25-dihydroxy vitamin D [1,25-(OH)2D] levels. Here, we report a case of hypercalciuria without skeletal lesions in a patient with compound...

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Identifiers

PMID: 24924704
DOI: 10.1159/000360291

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