Pathology and Laboratory Medicine; Paediatrics and Child Health
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.
Annals of Medicine and Surgery
Khan, A. H.
(2021). X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan. Annals of Medicine and Surgery, 62, 244-248.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_pathol_microbiol/1312
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