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

Nawazish Zehra; Lena Jafri; Salman Kirmani; Aysha Habib Khan

doi:10.1016/j.amsu.2021.01.067

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

Ann Med Surg (Lond). 2021 Jan 22:62:244-248. doi: 10.1016/j.amsu.2021.01.067. eCollection 2021 Feb.

Authors

Nawazish Zehra¹, Lena Jafri¹, Salman Kirmani², Aysha Habib Khan¹

Affiliations

¹ Department of Pathology and Laboratory Medicine, Pakistan.
² Department of Pediatric and Child Health Aga Khan University, Karachi, Pakistan.

Abstract

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.

Keywords: Autosomal dominant; Case report; Osteomalacia/rickets; PHEX mutation.

Publication types

Case Reports