X-linked Hypophosphatemic Rickets (PHEX Mutation): A Case Report and Literature Review

Overview

Journal Sudan J Paediatr

Specialty Pediatrics

Date 2017 Dec 8

PMID 29213174

Citations 7

Authors

Badi Alenazi

M A Maleque Molla

Abdullah Alshaya

Mahmoud Saleh

Affiliations

Soon will be listed here.

Abstract

Hypophosphatemic rickets is a rare form of rickets that affect children. The diagnosis requires high index of suspicion. We report a case of Hypophosphatemic rickets in 18-month-old Saudi boy presented with delayed walking and lower limb deformity. The diagnosis was confirmed by bone profile, radiological study and genetic testing, which reveled PHEX mutation. The patient was successfully treated by phosphate supplement.

Citing Articles

Use of Whole-Exome Sequencing and Pedigree Analysis to Identify X-linked Hypophosphatemia in Saudi Arabian Families.

Al-Hamed M, Bakhamis S, Abdelfattah S, Alsagheir A J Endocr Soc. 2024; 9(1):bvae203.

PMID: 39659542 PMC: 11631126. DOI: 10.1210/jendso/bvae203.

Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets.

Chaturvedi D, Mehasi T, Benbrahim A, ElDeeb L, Deeb A Bone Rep. 2024; 21:101753.

PMID: 39011543 PMC: 11247149. DOI: 10.1016/j.bonr.2024.101753.

Diagnostic and New Therapeutic Approaches to Two Challenging Pediatric Metabolic Bone Disorders: Hypophosphatasia and X-linked Hypophosphatemic Rickets.

Aljuraibah F, Alalwan I, Habeb A Curr Pediatr Rev. 2023; 20(4):395-404.

PMID: 37927073 DOI: 10.2174/0115733963206838231031102750.

Effects of Burosumab Treatment on Two Siblings with X-Linked Hypophosphatemia. Case Report and Literature Review.

Jurca C, Iuhas O, Kozma K, Petchesi C, Zaha D, Bembea M Genes (Basel). 2022; 13(8).

PMID: 36011303 PMC: 9407333. DOI: 10.3390/genes13081392.

Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries.

Juraibah F, Al Amiri E, Al Dubayee M, Al Jubeh J, Al Kandari H, Al Sagheir A Arch Osteoporos. 2021; 16(1):52.

PMID: 33660084 PMC: 7929956. DOI: 10.1007/s11657-021-00879-9.

References

Weber T, Liu S, Indridason O, Quarles L . Serum FGF23 levels in normal and disordered phosphorus homeostasis. J Bone Miner Res. 2003; 18(7):1227-34. DOI: 10.1359/jbmr.2003.18.7.1227. View

Makitie O, Toiviainen-Salo S, Marttinen E, Kaitila I, Sochett E, Sipila I . Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets. Horm Res. 2008; 69(4):212-20. DOI: 10.1159/000113021. View

Igaki J, Yamada M, Yamazaki Y, Koto S, Izawa M, Ariyasu D . High iFGF23 level despite hypophosphatemia is one of the clinical indicators to make diagnosis of XLH. Endocr J. 2011; 58(8):647-55. DOI: 10.1507/endocrj.k10e-257. View

Martin A, David V, Quarles L . Regulation and function of the FGF23/klotho endocrine pathways. Physiol Rev. 2012; 92(1):131-55. PMC: 3306265. DOI: 10.1152/physrev.00002.2011. View

Seikaly M, Brown R, Baum M . The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. Pediatrics. 1997; 100(5):879-84. DOI: 10.1542/peds.100.5.879. View

Huiming Y, Chaomin W . Recombinant growth hormone therapy for X-linked hypophosphatemia in children. Cochrane Database Syst Rev. 2005; (1):CD004447. DOI: 10.1002/14651858.CD004447.pub2. View

Endo I, Fukumoto S, Ozono K, Namba N, Tanaka H, Inoue D . Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. Bone. 2008; 42(6):1235-9. DOI: 10.1016/j.bone.2008.02.014. View

Lee J, Imel E . The changing face of hypophosphatemic disorders in the FGF-23 era. Pediatr Endocrinol Rev. 2013; 10 Suppl 2:367-79. PMC: 4170520. View

Patel L, Clayton P, Brain C, Pelekouda E, Addison G, Price D . Acute biochemical effects of growth hormone treatment compared with conventional treatment in familial hypophosphataemic rickets. Clin Endocrinol (Oxf). 1996; 44(6):687-96. DOI: 10.1046/j.1365-2265.1996.740561.x. View

10.

Rivkees S, Brown E, Crawford J . Tertiary hyperparathyroidism during high phosphate therapy of familial hypophosphatemic rickets. J Clin Endocrinol Metab. 1992; 75(6):1514-8. DOI: 10.1210/jcem.75.6.1464657. View

11.

Quinlan C, Guegan K, Offiah A, Neill R, Hiorns M, Ellard S . Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment. Pediatr Nephrol. 2011; 27(4):581-8. DOI: 10.1007/s00467-011-2046-z. View

12.

Prie D, Friedlander G . Genetic disorders of renal phosphate transport. N Engl J Med. 2010; 362(25):2399-409. DOI: 10.1056/NEJMra0904186. View

13.

Verge C, Lam A, Simpson J, Cowell C, Howard N, Silink M . Effects of therapy in X-linked hypophosphatemic rickets. N Engl J Med. 1991; 325(26):1843-8. DOI: 10.1056/NEJM199112263252604. View

14.

Carpenter T, Mitnick M, Ellison A, Smith C, Insogna K . Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. J Clin Endocrinol Metab. 1994; 78(6):1378-83. DOI: 10.1210/jcem.78.6.8200940. View

15.

Liu S, Guo R, Simpson L, Xiao Z, Burnham C, Quarles L . Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX. J Biol Chem. 2003; 278(39):37419-26. DOI: 10.1074/jbc.M304544200. View

16.

Makitie O, Doria A, Kooh S, Cole W, Daneman A, Sochett E . Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 2003; 88(8):3591-7. DOI: 10.1210/jc.2003-030036. View

17.

. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet. 1995; 11(2):130-6. DOI: 10.1038/ng1095-130. View

18.

Carpenter T, Imel E, Holm I, de Beur S, Insogna K . A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res. 2011; 26(7):1381-8. PMC: 3157040. DOI: 10.1002/jbmr.340. View

19.

Cho H, Lee B, Kang J, Ha I, Cheong H, Choi Y . A clinical and molecular genetic study of hypophosphatemic rickets in children. Pediatr Res. 2005; 58(2):329-33. DOI: 10.1203/01.PDR.0000169983.40758.7B. View

20.

Tenenhouse H, Beck L . Renal Na(+)-phosphate cotransporter gene expression in X-linked Hyp and Gy mice. Kidney Int. 1996; 49(4):1027-32. DOI: 10.1038/ki.1996.149. View