Hypophosphatemic rickets due to perturbations in renal tubular function
- 1 May 2013
- journal article
- review article
- Published by Springer Science and Business Media LLC in Pediatric Nephrology
- Vol. 29 (3), 361-373
- https://doi.org/10.1007/s00467-013-2466-z
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.Keywords
This publication has 69 references indexed in Scilit:
- Phosphate homeostasis and its role in bone healthPediatric Nephrology, 2012
- A clinician's guide to X-linked hypophosphatemiaJournal of Bone and Mineral Research, 2011
- Genetic Disorders and Defects in Vitamin D ActionEndocrinology and Metabolism Clinics of North America, 2010
- Phosphate-induced Apoptosis of Hypertrophic Chondrocytes Is Associated with a Decrease in Mitochondrial Membrane Potential and Is Dependent upon Erk1/2 PhosphorylationPublished by Elsevier BV ,2010
- FGF-23 in bone biologyPediatric Nephrology, 2009
- Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolismPediatric Nephrology, 2009
- Renal phosphate wasting due to tumor-induced osteomalacia: a frequently delayed diagnosisKidney International, 2009
- Regulation of phosphate homeostasis by the phosphatonins and other novel mediatorsPediatric Nephrology, 2008
- A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidismProceedings of the National Academy of Sciences of the United States of America, 2008
- Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolismNature Genetics, 2006