[Rickets/osteomalacia due to tubular dysfunction].
Proximal tubular cells play important roles in the homeostasis of Ca, P and acid-base balance. Tubular dysfunction could cause impairment of bone mineralization. In this review, the mechanisms underlying development of rickets/osteomalacia associated with tubular disorders in conjunction with its molecular mechanisms are described. Among the tubular functions, reabsorption of phosphate via Na-Pi cotransporter, endocytotic reabsorption of VitD-DBP complex mediated by megalin and cubilin, and acid-base regulation are most important for bone mineralization. As clinical manifestations, Fanconi syndrome is most common. Rickets in Dent disease is also described.
Sekine
Takashi
T
The University of Tokyo, Graduate School of Medicine, Department of Pediatrics.
D000141:Acidosis, Renal Tubular / Q000150:complications; D006801:Humans; D007674:Kidney Diseases / Q000150:complications; D007684:Kidney Tubules; D010018:Osteomalacia / Q000209:etiology*; D012279:Rickets / Q000209:etiology*