Internal Med Medical News about Hypophosphatemic Rickets

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Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/Type IIc Sodium-Phosphate Cotransporter: Presentation as Hypercalciuria and Nephrolithiasis
Journal of Clinical Endocrinology and Metabolism, 10/15/09

Tencza AL et al. – The authors report a novel mutation in the SLC34A3 gene in a patient with an unusual presentation of HHRH. This report emphasizes that moderate and severe hypercalciuria can be manifestations of heterozygous or homozygous loss–of–function mutations in the SLC34A3 gene, respectively, providing further evidence for a gene dosage effect in determining the phenotype. HHRH may be an underdiagnosed condition that can masquerade as idiopathic hypercalciuria or osteopenia.

Exclusive Author Commentary
Michael A. Levine, 10/15/09

This work demonstrates the utility of MRI in diagnosing rickets when plain radiographs are normal. The patient described also had a low normal serum phosphorus, which reminds us that several measurements of serum phosphorus may be necessary, using age-related normal values, to identify patients with hypophosphatemia.