ArticleEndocrine connections2026
Clinical features of Italian adult individuals with X-linked hypophosphatemia: a multicenter retrospective study.
Article in Endocrine connections, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- FGF23 - A hormone produced by bone and has many faces.Reviews in endocrine & metabolic disorders · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: X-linked hypophosphatemia (XLH) is the most common congenital phosphate disorder affecting individuals throughout the lifespan. We investigated the skeletal burden, the cardiovascular involvement, the diagnostic performance and the therapeutic management in a cohort of Italian adults with XLH. Design: Cross-sectional study involving 15 Italian tertiary centers. Methods: Retrospective study. Results: In total, 170 adults (110 females and 60 males), aged 44.6 ± 14.6 (19-83) years, were identified. i) Skeletal deformities were detected in 87.1% of individuals, fractures/pseudofractures in 44.7%, osteophytosis in 65.4% and enthesopathies in 57.6%. Dental disease affected 72.4% of individuals. The skeletal burden was heavier in males than in females. ii) Hypertension occurred in 14.7% of individuals and was associated with elevated plasma intact FGF23 levels; dyslipidemia, diabetes and cerebrovascular events occurred in very few individuals. iii) FGF23 levels were measured in 30.0% of individuals; they were >30 pg/mL (nv 23-95) in nearly all individuals but overtly elevated in 58.8%. Genetic analysis has been performed in 86.5% of the cohort, and PHEX mutations were identified in 95.2% of the individuals without evidence of genotype/phenotype correlation. iv) 44.2% of individuals were on conventional therapy, 32.5% were on burosumab, and 23.3% were untreated. Individuals having received diagnosis in the adulthood (n = 14) were neither medically nor surgically treated during their childhood. Conclusion: The burden of XLH disease in adulthood is determined by skeletal manifestations and dental disease and may be more severe in males. Additionally, cardiometabolic impairment may not be common. The disease burden impacts most of the individuals, beyond those presenting the criteria for burosumab reimbursement. Significance statement: Data from a consistent cohort of adults with XLH highlighted that skeletal and dental disease-related complications significantly affect XLH individuals during adulthood and aging. Skeletal features associated with aging occur earlier in adults with XLH, being more evident when untreated or poorly treated with conventional therapy. The disease burden impacts most of individuals, beyond those presenting the criteria for burosumab reimbursement. The study contributes in increasing awareness toward adult XLH individuals and provides data for implementing the disease management and the health policy planning.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.