Disease burden and health-related quality of life among children with X-linked hypophosphataemia in China: a national cross-sectional survey.

ABSTRACT:

Background

X-linked hypophosphataemia (XLH) is a rare inherited disorder often misdiagnosed and lacking sufficient aetiological treatment. Previous studies have shown that XLH is associated with worse health-related quality of life (HRQoL) and greater economic burden for children and their families compared with the general population, but evidence from China is scarce. This study aimed to comprehensively explore the burden and HRQoL of XLH children in China.

Methods

An online retrospective survey of paediatric patients with XLH and their caregivers was conducted nationwide during March to June 2021. A self-administered questionnaire was used to collect socio-demographic, clinical and economic data. The EQ-5D-Y-3L instrument was employed to assess HRQoL, and the health utili

SUBMITTER: Zhu L 

PROVIDER: S-EPMC11887277 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature