Prevalence and Mortality of Individuals With X-Linked Hypophosphatemia : A United Kingdom Real-World Data Analysis
Hawley, Samuel (University of Oxford. Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences)
Shaw, Nick J. (Institute of Metabolism & Systems Research, University of Birmingham)
Delmestri, Antonella (Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford)
Prieto-Alhambra, Daniel (Universitat Autònoma de Barcelona)
Cooper, Cyrus (MRC Lifecourse Epidemiology Unit, University of Southampton)
Pinedo-Villanueva, Rafael (Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford)
Javaid, M. Kassim (MRC Lifecourse Epidemiology Unit, University of Southampton)

Data:	2020
Resum:	X-linked hypophosphatemia (XLH) is a rare multisystemic disease with a prominent musculoskeletal phenotype. We aim here to improve understanding of the prevalence of XLH across the life course and of overall survival among people with XLH. This was a population-based cohort study using a large primary care database in the United Kingdom (UK) from 1995 to 2016. XLH cases were matched by age, gender, and practice to up to 4 controls. Trends in prevalence over the study period were estimated (stratified by age) and survival among cases was compared with that of controls. From 522 potential cases, 122 (23. 4%) were scored as at least possible XLH, while 62 (11. 9%) were classified as highly likely or likely (conservative definition). In main analyses, prevalence (95% CI) increased from 3. 1 (1. 5-6. 7) per million in 1995-1999 to 14. 0 (10. 8-18. 1) per million in 2012-2016. Corresponding estimates using the conservative definition were 3. 0 (1. 4-6. 5) to 8. 1 (5. 8-11. 4). Nine (7. 4%) of the possible cases died during follow-up, at median age of 64 years. Fourteen (2. 9%) of the controls died at median age of 72. 5 years. Mortality was significantly increased in those with possible XLH compared with controls (hazard ratio [HR] 2. 93; 95% CI, 1. 24-6. 91). Likewise, among those with likely or highly likely XLH (HR 6. 65; 1. 44-30. 72). We provide conservative estimates of the prevalence of XLH in children and adults within the UK. There was an unexpected increase in mortality in later life, which may have implications for other fibroblast growth factor 23-related disorders.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	XLH ; Hypophosphatemia ; Rickets ; Prevalence ; Survival ; Rate
Publicat a:	The journal of clinical endocrinology & metabolism, Vol. 105 Num. 3 (March 2020) , ISSN 1945-7197

DOI: 10.1210/clinem/dgz203
PMID: 31730177

8 p, 2.2 MB

El registre apareix a les col·leccions:
Articles > Articles de recerca
Articles > Articles publicats