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X-Linked Hypophosphatemia: Understanding a Rare Genetic Disorder
X-Linked Hypophosphatemia (XLH) is a rare genetic disorder that primarily affects phosphate metabolism, leading to weakened bones, growth abnormalities, and other systemic complications. It is the most common form of hereditary rickets in children and can continue to affect adults if untreated. XLH is caused by mutations in the PHEX gene, which regulates phosphate levels in the body.
Causes and Genetic Basis
XLH is inherited in an X-linked dominant pattern, meaning the defective gene is located on the X chromosome. Both males and females can be affected, but the severity may differ. The PHEX gene mutation causes the overproduction of fibroblast growth factor 23 (FGF23), a hormone that decreases phosphate reabsorption in the kidneys. This leads to chronic low phosphate levels in the blood (hypophosphatemia), impairing bone mineralization and leading to soft and fragile bones.
Symptoms of X-Linked Hypophosphatemia