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
2023
A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia
Kayser M, Jain P, Bale A, Carpenter T. A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia. JCEM Case Reports 2023, 1: luad082. PMID: 37908207, PMCID: PMC10586592, DOI: 10.1210/jcemcr/luad082.Peer-Reviewed Original ResearchSkewed X-inactivationFibroblast growth factor 23Growth factor 23Intrauterine growth restrictionSingle nucleotide polymorphismsDiagnosis of XLHClinical featuresFactor 23Duodenal atresiaRadiographic featuresGrowth restrictionPostnatal genetic testingAndrogen receptor locusPotential treatmentGenetic testingHypophosphatemiaXLHHereditary ricketsDominant disorderPrenatal identificationCommon formHemizygous malesHeterozygous disruptionRicketsHeterozygous females
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