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 variantsMethodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults
Ali D, Khan A, Mirza R, Appelman-Dijkstra N, Brandi M, Carpenter T, Chaussain C, Imel E, de Beur S, Florenzano P, Morrison A, Alrob H, Alexander R, Alsarraf F, Beck-Nielsen S, Biosse-Duplan M, Cohen-Solal M, Crowley R, Dandurand K, Filler G, 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, Morgante E, Portale A, Rhee Y, Siggelkow H, Tosi L, Ward L, Guyatt G. Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults. Journal Of Bone And Mineral Metabolism 2025, 43: 193-202. PMID: 40119067, DOI: 10.1007/s00774-025-01585-z.Peer-Reviewed Original ResearchConceptsCertainty of evidenceGRADE recommendationsImpact of medical interventionsManagement of "X-linked hypophosphatemiaX-linked hypophosphatemiaClinical practice guidelinesPatient-important outcomesRisk of biasNarrative literature reviewClinical practice surveyPatient partnersGuideline methodologistsGuideline panelFindings tablePractice guidelinesSystematic reviewPractice surveyMedical interventionsPregnant womenRecommendation strengthTreatment recommendationsInternational expertsPatient populationComprehensive guidelinesBody of evidenceX-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 complicationsSystematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients With X-Linked Hypophosphatemia
Ali D, Mirza R, Hussein S, Alsarraf F, Alexander R, Abu Alrob H, Appelman-Dijkstra N, Biosse-Duplan M, Brandi M, Carpenter T, Chaussain C, Dandurand K, Filler G, Florenzano P, Fukumoto S, Grasemann C, Imel E, de Beur S, Morgante E, Ward L, Khan A, Guyatt G. Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients With X-Linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 2025, 110: 1205-1217. PMID: 39787354, PMCID: PMC12012687, DOI: 10.1210/clinem/dgaf011.Peer-Reviewed Original ResearchX-linked hypophosphatemiaConventional therapyLower limb deformitiesNo treatmentMedical therapyAdverse eventsManagement of "X-linked hypophosphatemiaTreatment-emergent adverse eventsObservational study of individualsObservational studyEfficacy of medical therapyPhysical health QoLAssessed risk of biasBurden of symptomsEffects of medical therapyOpen-label RCTRisk of biasCertainty of evidenceIncreased adverse eventsLimb deformitiesPost hoc studyWeb of ScienceHealth QoLStudy of individualsDental abscess
2024
12605 Two Systematic Reviews Of Treatment Efficacy On Patient Important Outcomes In Children X-linked Hypophosphatemia
Ali D, Mirza R, Hussein S, Alsarraf F, Alexander R, AbuAlrob H, Brandi M, Carpenter T, Dandurand K, Filler G, Florenzano P, Fukumoto S, Grasemann C, Imel E, De Beur S, Morgante E, Ward L, Khan A, Guyatt G. 12605 Two Systematic Reviews Of Treatment Efficacy On Patient Important Outcomes In Children X-linked Hypophosphatemia. Journal Of The Endocrine Society 2024, 8: bvae163.528. PMCID: PMC11453601, DOI: 10.1210/jendso/bvae163.528.Peer-Reviewed Original ResearchRandomized controlled trialsBurden of symptomsCertainty of evidenceLower limb deformitiesPhysical health quality of lifePhysical health QoLSystematic reviewKyowa KirinOpen-label designModerate certaintyTreatment-emergent adverse eventsHealth quality of lifeObservational studyReviewed reference listsHealth QoLPatient-important outcomesRisk of biasHigh-certainty evidenceQuality of lifeLimb deformitiesWeb of ScienceX-linked hypophosphatemiaPost hoc studyCertainty evidenceReference lists
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