X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan

Abstract

.introduction.and.importance Autosomal dominant hypophosphatemic rickets is the most common form of rare rickets, commonly manifests in children but sometimes the condition remains undiagnosed due to lack of knowledge &/or awareness of treating physicians or surgeons. Case presentation We describe a case of 43 years old female with multiple fragility fractures since childhood, corrected surgically but never investigated. She had stunted growth, bowing deformities and loss of teeth. Clinical discussion A detailed history and examination along with metabolic and genetic work up mounted the diagnosis of X linked hypophosphatemic osteomalacia. The pathophysiology involves the mutation or the loss of the phosphate regulating gene on PHEX, that causes reduced mineralization of bones and teeth. Conclusion Diagnostic delay in this patient resulted in increased disabilities affecting her mobility and lif estyle.

An overview of fibroblast growth factor 23 and its role in kidney function

“…The most common form of this disease is caused by mutations in the PHEX gene, which results in elevated levels of FGF23 in the blood. These high levels of FGF23 cause phosphate wasting in the kidneys and impair the normal functioning of vitamin D, leading to impaired bone modeling and mineralization (39,40).…”