ABSTRACT Objective: The 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 methods: Observational, 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). Results: Sixteen patients (age: 40.3 ± 13.2 years; female: […]

ABSTRACT Burosumab, a monoclonal antibody directed against the fibroblast growth factor 23 (FGF23), has been approved for the treatment of X-linked hypophosphatemia (XLH). We conducted a systematic review to compare the efficacy and safety of burosumab versus conventional therapy (phosphorus and calcitriol) on XLH treatment. After a comprehensive literature search on MEDLINE/PubMed and Embase, we found nine studies for inclusion in the analysis. Risk of bias was assessed, and a random-effects model was used to determine the effect size. Clinical, […]

ABSTRACT Objective: The aim of this cross-sectional study was to estimate the prevalence of XLH in Paraná, a state in southern Brazil, and report the clinical features and complications of the disease. Materials and methods: We invited all endocrinologists (n = 205), nephrologists (n = 221), orthopedic surgeons (n = 1020), and pediatricians (n = 1000) in Paraná to fill out an electronic survey with information on patients with X-linked hypophosphatemia (XLH), and searched the records of the state’s health […]