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

SUBMITTER: Zehra N 

PROVIDER: S-EPMC7840437 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature