Observational studyArchives of endocrinology and metabolism2025
Characterization of adult patients with X-linked hypophosphatemia at a specialized center in Buenos Aires, Argentina.
Observational study in Archives of endocrinology and metabolism, 2025. 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
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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.
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Who cites it
1 citing paper in PubMed.
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe study objectives were to characterize adult patients with XLH treated at a referral center, assess their physical function and the impact of X-linked hypophosphatemia (XLH) on their quality of life, and estimate their adherence to conventional treatment. SUBJECTS AND
methodsObservational, retrospective study of patients with XLH from a referral center in Argentina, based on demographic and clinical data, complementary methods, and validated questionnaires (WOMAC, PROMIS, and SF-36).
resultsSixteen patients (age: 40.3 ± 13.2 years; female: 87.2%) were included. All patients had clinical and/or radiological skeletal manifestations (lower limb malformations and/or pseudofractures). The prevalence of clinical fractures was 60%. Hearing loss was the most frequent extra skeletal finding (67%). The WOMAC score was 47.8 ± 26 (62.5% of patients had ≥ 40 points). The PROMIS score was 23-33 (43% of patients) and ≥ 34 in 14% of patients. Except for emotional function, the median scores of the SF-36 domains were below 50 points. Only 20% of patients had good adherence to conventional treatment.
conclusionsAdult patients with XLH have numerous unmet needs, with frequent bone and extraskeletal complications. Physical function and quality of life scores were poor. Adherence to conventional treatment was unsatisfactory. Long-term studies are required to characterize these patients and confirm the efficacy and safety of continuous treatment, such as anti-fibroblast growth factor-23 monoclonal antibodies.
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