2025
X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline
Khan A, Ali D, Appelman-Dijkstra N, Carpenter T, Chaussain C, Imel E, de Beur S, Florenzano P, Abu Alrob H, Aldabagh R, Alexander R, Alsarraf F, Beck-Nielsen S, Biosse-Duplan M, Cohen-Solal M, Crowley R, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid M, Khan S, Khan A, Lehman A, Lems W, Lewiecki E, McDonnell C, Mirza R, Morgante E, Morrison A, Portale A, Rhee Y, Rush E, Siggelkow H, Tetradis S, Tosi L, Ward L, Guyatt G, Brandi M. X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline. The Journal Of Clinical Endocrinology & Metabolism 2025, dgaf170. PMID: 40243526, DOI: 10.1210/clinem/dgaf170.Peer-Reviewed Original ResearchInternational Working GroupSystematic reviewX-linked hypophosphatemiaClinical practice guidelinesPatient-important outcomesCertainty of evidenceConventional therapyNo therapyDiagnosis of XLHPatient partnersPatient societiesAbsence of fractureMultidisciplinary teamPractice guidelinesInsufficient evidenceGlobal guidelinesGRADE methodologyTreated with conventional therapyNarrative reviewRenal phosphate wastingSymptomatic adultsEffective medical therapyAdultsWorking GroupPathogenic variantsX-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline
Ali D, Carpenter T, Imel E, Ward L, Appelman-Dijkstra N, Chaussain C, de Beur S, Florenzano P, Abu Alrob H, Aldabagh R, Alexander R, Alsarraf F, Beck-Nielsen S, Biosse-Duplan M, Crowley R, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid M, Khan S, Khan A, Lehman A, Lems W, Lewiecki E, McDonnell C, Mirza R, Morgante E, Morrison A, Portale A, Rao C, Rhee Y, Rush E, Siggelkow H, Tetradis S, Tosi L, Guyatt G, Brandi M, Khan A. X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline. The Journal Of Clinical Endocrinology & Metabolism 2025, 110: 2055-2070. PMID: 39960858, PMCID: PMC12187519, DOI: 10.1210/clinem/dgaf093.Peer-Reviewed Original ResearchClinical practice guidelinesInternational Working GroupX-linked hypophosphatemiaClinical practice surveyPractice guidelinesMultidisciplinary healthcare professionalsPractice surveyManagement of "X-linked hypophosphatemiaPatient-important outcomesCertainty of evidenceCare of childrenNo therapyConventional therapyHealthcare professionalsDiagnosis of XLHPatient partnersMonitoring recommendationsTreatment of X-linked hypophosphatemiaMethodological expertsGRADE recommendationsSystematic reviewGenetic testingGRADE methodologyNarrative reviewDental complications
2024
Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia
Ali D, Mirza R, Alsarraf F, Hussein S, Abu Alrob H, Appelman-Dijkstra N, Beck-Nielsen S, Biosse-Duplan M, Brandi M, Carpenter T, Chaussain C, Cohen-Solal M, Crowley R, Dandurand K, Florenzano P, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Imel E, de Beur S, Lehman A, Lewiecki E, Morgante E, Ward L, Khan A, Guyatt G. Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 2024, 110: 1767-1780. PMID: 39715351, PMCID: PMC12086399, DOI: 10.1210/clinem/dgae890.Peer-Reviewed Original ResearchX-linked hypophosphatemiaConventional therapyPatient-important outcomesNo treatmentModerate certaintyObservational studyAdult patientsManagement of "X-linked hypophosphatemiaEfficacy of medical therapyEffects of burosumabLow certaintyObservational study of individualsHigh-certainty evidenceAssessed risk of biasRisk of biasAbscess riskLow RoB.Medical therapyImprove painPain measuresBurosumabWeb of ScienceGRADE methodologyTherapyEvidence certainty
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