Article
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
American journal of human genetics - 1 Feb 2006
Bergwitz Clemens, Roslin Nicole M, Tieder Martin, Loredo-Osti J C, Bastepe Murat, Abu-Zahra Hilal, Frappier Danielle, Burkett Kelly, Carpenter Thomas O, Anderson Donald, Garabedian Michele, Sermet Isabelle, Fujiwara T Mary, Morgan Kenneth, Tenenhouse Harriet S, Juppner Harald
Abstract excerpt
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of autosomal recessive inheritance that was first described in a large consanguineous Bedouin kindred. HHRH is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histological evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other...
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