Rare cause of pathological fracture in adults as hypophosphatemic rickets
Keywords:Hereditary, FGF 23 - Fibroblast Growth Factor 23, Phosphorus, PTH – Parathyroid Hormone, Rickets
Hypophosphatemic rickets is a disorder of defective bone minerlization due to defect in renal phosphate handling process. It is characterised by increased phosphate excretion accompanied by increased phosphatonins like fibroblast growth factor 23. It can be hereditary form of X linked, autosomal dominant, autosomal recessive type of hypophosphatemic rickets. It is associated with low serum phosphorus, normal serum calcium, inappropriately low to normal vitamin D level. Correct identification of these disorders is important for determining therapy. Early diagnosis and management prevent subsequent complication of the disease.
Imel EA, Carpenter TO. A practical clinical approach to paediatric phosphate disorders. Endocr Dev. 2015;28:134-61.
Imel EA, Econs MJ. Approach to the hypophosphatemic patient. J Clin Endocrinol Metab. 2012;97:696-706.
Jagtap VS, Sarathi V, Lila AR, Bandgar T, Menon P, Shah NS. Hypophosphatemic rickets. Indian J Endocrinol Metab. 2012;16:177-82.
Tiosano D, Hochberg Z. Hypophosphatemia: the common denominator of all rickets. J Bone Miner Metab. 2009;27:392-401.
Lee JY, Imel EA. The Changing Face of Hypophosphatemic Disorders in the FGF-23 era. Pediatr Endocrinol Rev. 2013;10:367-79.
Francis F, Hennig S, Korn B, Reinhardt R, de Jong P, Poustka A, et al. A gene (PEX) with homologies to endopeptidases is mutated in patients with X linked hypophosphatemic rickets. The HYP Consortium. Nat Genet. 1995;11:130-6.
Tenen house HS, Beck L. Renal Na+-P cotransporter gene expression in X-linked Hyp and Gymice. Kidney Int. 1996;49:1027-103.
Liu S, Guo R, Simpson LG, Xiao ZS, Burnham CE, Quarles LD. Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX. J Biol Chem. 2003;278:37419-26.
Weber TJ, Liu S, Indridason OS, Quarles LD. Serum FGF23 levels in normal and disordered phosphorus homeostasis. J Bone Miner Res. 2003;18:1227-34.
Martin A, David V, Quarles LD. Regulation and function of the FGF23/klotho endocrine pathway. Physiol Rev. 2012;92:131-55.
Carpenter TO, Mitnick MA, Ellison A, Smith C, Insogna KL. Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. J Clin Endocrinol Metab. 1994;78:1378-83.
Rivkees SA, el-Hajj-Fuleihan GH, Brown EM, Crawford JD. Tertiary hyperparathyroidism during high phosphate therapy of familial hypophosphatemic rickets. J Clin Endocrinol Metab. 1992;75:1514-8.
Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician's guide to x-linked hypophosphatemia. J Bone Miner Res. 2011;26:1381-8.
Maleque MA, Badi Alenazi, Mahmoud Saleh. X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review Sudan J Paediatr. 2017;17(1):61-5.