Disorders of Phosphate Homeostasis in Children, Part 2: Hypophosphatemic and Hyperphosphatemic Disorders

Overview

Journal Pediatr Radiol

Specialty Pediatrics

Date 2022 May 10

PMID 35536416

Authors

Richard M Shore

Affiliations

Soon will be listed here.

Abstract

Phosphorus, predominantly in the form of inorganic phosphate PO, has many essential physiological functions. In the skeleton, phosphate and calcium form the mineral component and phosphate is also essential in regulating function of skeletal cells. Considerable advances have been made in our understanding of phosphate homeostasis since the recognition of fibroblast growth factor-23 (FGF23) as a bone-derived phosphaturic hormone. This second part of a two-part review of disorders of phosphate homeostasis in children covers hypophosphatemic and hyperphosphatemic disorders that are of interest to the pediatric radiologist, emphasizing, but not limited to, those related to abnormalities of FGF23 signaling.

Citing Articles

Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology.

Baroncelli G, Comberiati P, Aversa T, Baronio F, Cassio A, Chiarito M Front Endocrinol (Lausanne). 2024; 15:1383681.

PMID: 38706696 PMC: 11066174. DOI: 10.3389/fendo.2024.1383681.

Relationship between serum phosphate and mortality in critically ill children receiving continuous renal replacement therapy.

Zhou X, He J, Zhu D, Yao Z, Peng D, Zhang X Front Pediatr. 2023; 11:1129156.

PMID: 37124175 PMC: 10130528. DOI: 10.3389/fped.2023.1129156.

References

Levine B, Kleeman C, Felsenfeld A . The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. Clin J Am Soc Nephrol. 2009; 4(11):1866-77. DOI: 10.2215/CJN.03000509. View

Christov M, Juppner H . Phosphate homeostasis disorders. Best Pract Res Clin Endocrinol Metab. 2018; 32(5):685-706. DOI: 10.1016/j.beem.2018.06.004. View

Koumakis E, Cormier C, Roux C, Briot K . The Causes of Hypo- and Hyperphosphatemia in Humans. Calcif Tissue Int. 2020; 108(1):41-73. DOI: 10.1007/s00223-020-00664-9. View

Razali N, Hwu T, Thilakavathy K . Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets. J Pediatr Endocrinol Metab. 2015; 28(9-10):1009-17. DOI: 10.1515/jpem-2014-0366. View

Lambert A, Linglart A . Hypocalcaemic and hypophosphatemic rickets. Best Pract Res Clin Endocrinol Metab. 2018; 32(4):455-476. DOI: 10.1016/j.beem.2018.05.009. View

Whyte M, Schranck F, Armamento-Villareal R . X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab. 1996; 81(11):4075-80. DOI: 10.1210/jcem.81.11.8923863. View

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

Imel E . Congenital Conditions of Hypophosphatemia in Children. Calcif Tissue Int. 2020; 108(1):74-90. PMC: 7581541. DOI: 10.1007/s00223-020-00692-5. View

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

10.

Gohil A, Imel E . FGF23 and Associated Disorders of Phosphate Wasting. Pediatr Endocrinol Rev. 2019; 17(1):17-34. PMC: 7040960. DOI: 10.17458/per.vol17.2019.gi.fgf23anddisordersphosphate. View

11.

Bacchetta J, Bardet C, Prie D . Physiology of FGF23 and overview of genetic diseases associated with renal phosphate wasting. Metabolism. 2019; 103S:153865. DOI: 10.1016/j.metabol.2019.01.006. View

12.

Beck-Nielsen S, Brixen K, Gram J, Molgaard C . High bone mineral apparent density in children with X-linked hypophosphatemia. Osteoporos Int. 2013; 24(8):2215-21. DOI: 10.1007/s00198-013-2286-9. View

13.

Oliveri M, CASSINELLI H, Bergada C, Mautalen C . Bone mineral density of the spine and radius shaft in children with X-linked hypophosphatemic rickets (XLH). Bone Miner. 1991; 12(2):91-100. DOI: 10.1016/0169-6009(91)90038-2. View

14.

Reid I, Murphy W, Hardy D, Teitelbaum S, Bergfeld M, Whyte M . X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry. Am J Med. 1991; 90(1):63-9. DOI: 10.1016/0002-9343(91)90507-t. View

15.

Rauch F . Material matters: a mechanostat-based perspective on bone development in osteogenesis imperfecta and hypophosphatemic rickets. J Musculoskelet Neuronal Interact. 2006; 6(2):142-6. View

16.

Frost H . The mechanostat: a proposed pathogenic mechanism of osteoporoses and the bone mass effects of mechanical and nonmechanical agents. Bone Miner. 1987; 2(2):73-85. View

17.

Arango Sancho P . Complications of Phosphate and Vitamin D Treatment in X-Linked Hypophosphataemia. Adv Ther. 2020; 37(Suppl 2):105-112. DOI: 10.1007/s12325-019-01170-7. View

18.

de Paula Colares Neto G, Ide Yamauchi F, Baroni R, Bianchi M, Gomes A, Chammas M . Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors. J Endocr Soc. 2019; 3(5):1053-1061. PMC: 6497922. DOI: 10.1210/js.2018-00338. View

19.

Carpenter T, Imel E, Ruppe M, Weber T, Klausner M, Wooddell M . Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. J Clin Invest. 2014; 124(4):1587-97. PMC: 3973088. DOI: 10.1172/JCI72829. View

20.

Carpenter T, Whyte M, Imel E, Boot A, Hogler W, Linglart A . Burosumab Therapy in Children with X-Linked Hypophosphatemia. N Engl J Med. 2018; 378(21):1987-1998. DOI: 10.1056/NEJMoa1714641. View