Open AccessHypophosphatemic Rickets with Hypercalciuria due to Mutation inSLC34A3/Type IIc Sodium-Phosphate Cotransporter: Presentation as Hypercalciuria and Nephrolithiasis
Author(s) -
Amanda L. Tencza,
Shoji Ichikawa,
Anna Dang,
David N. Kenagy,
Edward F. McCarthy,
Michael J. Econs,
Michael A. Levine
Publication year - 2009
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2009-1535
Subject(s) - hypercalciuria , endocrinology , medicine , hypophosphatemia , hypophosphatemic rickets , nephrocalcinosis , missense mutation , compound heterozygosity , cinacalcet , rickets , gene mutation , mutation , biology , vitamin d and neurology , parathyroid hormone , secondary hyperparathyroidism , genetics , calcium , kidney , gene
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a metabolic disorder due to homozygous loss-of-function mutations in the SLC34A3 gene encoding the renal type IIc sodium-phosphate cotransporter (NaPi-IIc). The typical presentation is severe rickets and hypophosphatemia, and hypercalciuria is often discovered later or overlooked.
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