[Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets].
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.
Department of Molecular Nutrition, Institute of Health Bioscience, University of Tokushima Graduate School, Tokushima, Japan.
Hiroko
H
Segawa
Yuji
Y
Shiozaki
Sakura
S
Minoshima
Ken-ichi
K
Miyamoto
D006801:Humans; D053565:Hypercalciuria / Q000235:genetics; D007668:Kidney / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D012279:Rickets / Q000235:genetics*; D063730:Rickets, Hypophosphatemic / Q000235:genetics*; D050615:Sodium-Phosphate Cotransporter Proteins, Type IIc / Q000235:genetics*
D050615:Sodium-Phosphate Cotransporter Proteins, Type IIc