Phosphate diabetes is a rare, congenital, hereditary disorder associated with inadequate tubular reabsorption that affects the way the body processes and absorbs phosphate.[1] Also named as X-linked dominant hypophosphatemic rickets (XLH),[2] this disease is caused by a mutation in the X-linked PHEX (phosphate regulating endopeptidase X-linked) gene,[2] which encodes for a protein that regulates phosphate levels in the human body.[3] phosphate is an essential mineral which plays a significant role in the formation and maintenance of bones and teeth, energy production and other important cellular processes.[4] phosphate diabetes is a condition that falls under the category of tubulopathies, which refers to the pathologies of the renal tubules.[5] The mutated PHEX gene causes pathological elevations in fibroblast growth factor 23 (FGF23),[1] a hormone that regulates phosphate homeostasis by decreasing the reabsorption of phosphate in the kidneys.[6]
Elevated levels of FGF23 in phosphate diabetes lead to an increase in phosphate excretion through urine, thus reducing the phosphate levels in blood.[5] However, due to impaired activation of vitamin D, which plays a crucial role in increasing intestinal calcium and phosphate absorption,[7] patients with this disorder are unable to replenish the lost phosphate. This results in low absorption of phosphate from the gastrointestinal system,[5] leading to a deficiency of phosphate in the body and disrupting the full calcium-phosphate metabolism process.
^ abLaroche M, Boyer JF (October 2005). "Phosphate diabetes, tubular phosphate reabsorption and phosphatonins". Joint Bone Spine. 72 (5): 376–381. doi:10.1016/j.jbspin.2004.07.013. PMID 16214071.
^ abSchnabel D, Haffner D (18 May 2018). "What is phosphate diabetes(XLH)". Phosphatdiabetes e.V. Translated by Kirchhoff M. Retrieved 2023-04-13.
^"PHEX phosphate regulating endopeptidase X-linked". Entrez Gene. U.S. National Library of Medicine.
^"Phosphorus in diet". MedlinePlus Medical Encyclopedia. U.S. National Library of Medicine. Retrieved 2023-04-13.
^Fukumoto S (January 2020). "Fibroblast growth factor 23.". Principles of Bone Biology. Academic Press. pp. 1529–1538. doi:10.1016/B978-0-12-814841-9.00063-4. ISBN 978-0-12-814841-9. S2CID 202038125.
^Akimbekov NS, Digel I, Sherelkhan DK, Razzaque MS (2022). "Vitamin D and Phosphate Interactions in Health and Disease". Phosphate Metabolism. Advances in Experimental Medicine and Biology. Vol. 1362. pp. 37–46. doi:10.1007/978-3-030-91623-7_5. ISBN 978-3-030-91621-3. PMID 35288871.
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