Genetic analysis combined with 3D-printing assistant surgery in diagnosis and treatment for an X-linked hypophosphatemia patient.

ABSTRACT:

Background

Hypophosphatemia is mainly characterized by hypophosphatemia and a low level of 1alpha,25-Dihydroxyvitamin D2 (1,25-(OH)₂ D2) and/or 1alpha,25-Dihydroxyvitamin D3 (1,25-(OH)₂ D3) in the blood. Previous studies have demonstrated that variants in PHEX and FGF23 are primarily responsible for this disease. Although patients with variants of these two genes share almost the same symptoms, they exhibit the different hereditary pattern, X-link dominant and autosome dominant, respectively. Three-dimensional (3D) printing is a method which can accurately reconstruct physical objects, and its applications in orthopedics can contribute to realizing a more accurate surgical performance and a better outcome.

Methods

An X-linked hypophosphatemia (XLH) fami

SUBMITTER: Jin JY 

PROVIDER: S-EPMC8906030 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature