Phosphate diabetes
Medical condition / From Wikipedia, the free encyclopedia
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.