Disorders of Renal Tubular Phosphate Transport

[摘要] The kidney plays a major role in the maintenance of inorganic phosphate (Pi) homeostasis and, as such, ensures that an adequate supply of this ubiquitous anion is available for proper cellular function and skeletal mineralization. Physiologic studies have revealed that the bulk of filtered Pi is reabsorbed in the proximal tubule, with higher rates of reabsorption in the early segments and in deep nephrons. This review will summarize the progress that has been made in the molecular identification and regulation of renal Pi transporters. In addition, it will focus on the pathophysiology of inherited (X-linked hypophosphatemia [XLH], autosomal dominant hypophosphatemic rickets [ADHR], and hereditary hypophosphatemic rickets with hypercalciuria [HHRH]) and acquired (oncogenic hypophosphatemic osteomalacia [OHO]) renal Pi wasting disorders, and discuss the role of two novel Pi-regulating genes, PHEX and FGF-23, in the regulation of Pi homeostasis. For recent reviews see references 1–5.

[学科分类] 泌尿医学

[关键词] Bone marrow necrosis;Sickle cell disease;Hyperhemolysis syndrome