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X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan
Nawazish Zehra1, Lena Jafri1, Salman Kirmani2
1Department of Pathology and Laboratory Medicine, Pakistan.
Abstractintroductionandimportance:
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.
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