title: Hypophosphatemic rickets due to perturbations in renal tubular function.
abstract: The common denominator for all types of rickets is hypophosphatemia, leading to inadequate supply of the mineral to the growing bone. Hypophosphatemia can result from insufficient uptake of the mineral from the gut or its disproportionate losses in the kidney, the latter being caused by either tubular abnormalities per se or the effect on the tubule of circulating factors like fibroblast growth factor-23 and parathyroid hormone (PTH). High serum levels of the latter result in most cases from abnormalities in vitamin D metabolism which lead to decreased calcium absorption in the gut and hypocalcemia, triggering PTH secretion. Rickets is a disorder of the growth plate and hence pediatric by definition. However, it is important to recognize that the effect of hypophosphatemia on other parts of the skeleton results in osteomalacia in both children and adults. This review addresses the etiology, pathophysiologic mechanisms, clinical manifestations and treatment of entities associated with hypophosphatemic rickets due to perturbations in renal tubular function.
authors: Pediatric Nephrology Unit, Clinics Hospital, School of Medicine, Federal University of Minas Gerais, Av. Professor Alfredo Balena, 190, CEP, 30130100, Belo Horizonte, MG, Brazil, mariagorettipenido@gmail.com.
authors: Maria Goretti M G
authors: MG
authors: Penido
authors: Uri S
authors: US
authors: Alon
mesh_terms: D000367:Age Factors; D020022:Genetic Predisposition to Disease; D006132:Growth Plate / Q000378:metabolism* / Q000503:physiopathology; D006801:Humans; D007687:Kidney Tubules, Proximal / Q000378:metabolism* / Q000503:physiopathology; D010012:Osteogenesis; D010710:Phosphates / Q000378:metabolism*; D011379:Prognosis; D063730:Rickets, Hypophosphatemic / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D012307:Risk Factors
chemical_list: D010710:Phosphates
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