[Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets].

Abstract

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) , an autosomal recessive disorder first identified in a large Bedouin tribe, is characterized by hypophosphatemia secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, hypercalciuria, rickets, and osteomalacia. Recent studies identified several mutations in the NaPi-2c/NPT2c transporter gene (SLC34A3) as the cause of HHRH. The fact that HHRH is caused by NaPi-2c loss-of-function mutations is compatible with the HHRH phenotype and the prevailing view of renal Pi regulation. The NaPi-2c mutants in HHRH show defective processing and stability.

• Authors: Hiroko Segawa, Yuji Shiozaki, Sakura Minoshima, Ken-ichi Miyamoto
• Journal: Clinical calcium (Clin Calcium) Vol. 23 Issue 10 Pg. 1445-50 (Oct 2013) ISSN: 0917-5857 [Print] Japan
• PMID: 24076642 (Publication Type: English Abstract, Journal Article, Review)

Chemical References

• Sodium-Phosphate Cotransporter Proteins, Type IIc

Topics

• Humans
• Hypercalciuria (genetics)
• Kidney (metabolism)
• Mutation (genetics)
• Rickets (genetics)
• Rickets, Hypophosphatemic (genetics)
• Sodium-Phosphate Cotransporter Proteins, Type IIc (genetics)