X-linked hypophosphatemia. Genetic and clinical correlates.
X-linked hypophosphatemia is a hereditary form of rickets that results from an isolated renal tubular wasting of phosphate. The clinical features unique to this disorder, and the recent advances in our understanding of vitamin D metabolism and molecular genetics in X-linked hypophosphatemia are reviewed. Finally, a succinct critique of the controversial treatment modalities round up this review.
Hanna
J D
JD
Department of Pediatrics, Virginia Commonwealth University's Medical College of Virginia, Richmond.
Niimi
K
K
Chan
J C
JC
D000818:Animals; D002117:Calcitriol / Q000008:administration & dosage; D008040:Genetic Linkage; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D051379:Mice; D008817:Mice, Mutant Strains; D009132:Muscles / Q000378:metabolism; D010710:Phosphates / Q000008:administration & dosage; D010758:Phosphorus / Q000378:metabolism; D012279:Rickets / Q000209:etiology; D014960:X Chromosome
D010710:Phosphates; D010758:Phosphorus; D002117:Calcitriol