X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline

被引：0

作者：

Ali, Dalal S. ^{[1
]}

Carpenter, Thomas O. ^{[2
,3
]}

Imel, Erik A. ^{[4
]}

Ward, Leanne M. ^{[5
]}

Appelman-Dijkstra, Natasha M. ^{[6
]}

Chaussain, Catherine ^{[7
]}

de Beur, Suzanne M. Jan ^{[8
]}

Florenzano, Pablo ^{[9
]}

Abu Alrob, Hajar ^{[10
]}

Aldabagh, Rana ^{[11
]}

Alexander, R. Todd ^{[12
]}

Alsarraf, Farah ^{[1
]}

Beck-Nielsen, Signe Sparre ^{[13
,14
]}

Biosse-Duplan, Martin ^{[7
,15
,16
]}

Crowley, Rachel K. ^{[17
]}

Dandurand, Karel ^{[18
]}

Filler, Guido ^{[19
]}

Friedlander, Lisa ^{[7
]}

Fukumoto, Seiji ^{[20
]}

Gagnon, Claudia ^{[21
,22
]}

Goodyer, Paul ^{[23
]}

Grasemann, Corinna ^{[24
,25
]}

Grimbly, Chelsey ^{[26
,27
]}

Hussein, Salma ^{[1
]}

Javaid, Muhammad K. ^{[28
]}

Khan, Sarah ^{[29
]}

Khan, Aneal ^{[30
]}

Lehman, Anna ^{[31
]}

Lems, Willem F. ^{[32
]}

Lewiecki, E. Michael ^{[33
]}

McDonnell, Ciara ^{[34
,35
]}

Mirza, Reza D. ^{[10
]}

Morgante, Emmett ^{[36
]}

Morrison, Archibald ^{[37
]}

Portale, Anthony A. ^{[38
]}

Rao, Christina ^{[39
]}

Rhee, Yumie ^{[40
]}

Rush, Eric T. ^{[41
,42
]}

Siggelkow, Heide ^{[43
,44
]}

Tetradis, Sotirios ^{[45
]}

Tosi, Laura ^{[46
]}

Guyatt, Gordon ^{[47
,48
]}

Brandi, Maria Luisa ^{[49
,50
]}

Khan, Aliya A.

机构：

[1] McMaster Univ, Div Endocrinol & Metab, Hamilton, ON L8S 4L8, Canada

[2] Yale Univ, Sch Med, Dept Pediat Endocrinol, New Haven, CT 06520 USA

[3] Yale Univ, Sch Med, Dept Orthoped & Rehabil, New Haven, CT 06520 USA

[4] Indiana Univ Sch Med, Dept Med & Pediat, Endocrinol, Indianapolis, IN 46202 USA

[5] Univ Ottawa, Childrens Hosp Eastern Ontario, Dept Pediat, Ottawa, ON K1H 8L1, Canada

[6] Leiden Univ Med Ctr, Ctr Bone Qual, Dept Internal Med, Div Endocrinol, NL-2300 ZA Leiden, Netherlands

[7] Univ Paris Cite, Fac Dent, Dept Oral Med, UMR 1333, F-75006 Paris, France

[8] Univ Virginia, Sch Med, Dept Med, Charlottesville, VA 22903 USA

[9] Pontificia Univ Catolica Chile, Sch Med, Dept Endocrinol, Santiago 8320165, Chile

[10] McMaster Univ, Dept Hlth Res Methods Evidence & Impact, Hamilton, ON L8S 4L8, Canada

[11] Univ Toronto, Fac Dent, Toronto, ON M5G 2L3, Canada

[12] Univ Alberta, Fac Med & Dent, Edmonton, AB T6G 2R3, Canada

[13] Aarhus Univ Hosp, Ctr Rare Dis, DK-8200 Aarhus, Denmark

[14] Aarhus Univ, Dept Clin Res, DK-8200 Aarhus, Denmark

[15] Inst Imagine, INSERM 1163, F-75015 Paris, France

[16] APHP, Dept Oral Med, F-75006 Paris, France

[17] Univ Coll Dublin, Rare Dis Clin Trial Network, Dublin 4, Ireland

[18] Univ Sherbrooke, Endocrinol Div, Div Internal Med, Sherbrooke, PQ J1H 5N4, Canada

[19] Western Univ, Dept Pediat, London, ON N6A 3K7, Canada

[20] Tamaki Aozora Hosp, Dept Med, Tokushima 7793125, Japan

[21] Univ Laval, CHU Quebec, Endocrinol & Nephrol Axis, Res Ctr, Quebec City, PQ G1V 4G2, Canada

[22] Univ Laval, Dept Med, Quebec City, PQ G1V 0A6, Canada

[23] McGill Univ, Hlth Ctr, Res Inst, Montreal, PQ H3H 2L9, Canada

[24] Kathol Klinikum Bochum, Dept Pediat, Div Rare Dis, D-44791 Bochum, Germany

[25] Ruhr Univ Bochum, D-44791 Bochum, Germany

[26] Univ Alberta, Dept Pediat, Edmonton, AB T6G 2R3, Canada

[27] Women & Childrens Hlth Res Inst, Edmonton, AB T6G 1C9, Canada

[28] Univ Oxford, Nuffield Dept Orthopaed, Rheumatol & Musculoskeletal Sci, Oxford, England

[29] Univ Toronto, Trillium Hlth Partners, Toronto, ON M5S 1A1, Canada

[30] MAGIC Clin Metabol & Genet Canada, Calgary, AB T2E 7Z4, Canada

[31] Univ British Columbia, Dept Med Genet, Vancouver, BC V6T 1Z4, Canada

[32] Amsterdam UMC, Dept Rheumatol, NL-1105 AZ Amsterdam, Netherlands

[33] New Mex Clin Res & Osteoporosis Ctr, Albuquerque, NM 87106 USA

[34] Childrens Hlth Ireland Crumlin, Dept Dermatol, Dublin D12 N512, Ireland

[35] Univ Dublin, Trinity Coll, Sch Psychol, Dublin D02 PN40, Ireland

[36] Univ Waterloo, Dept Kinesiol, Waterloo, ON N2L 3G1, Canada

[37] Citadel Oral Surg, 3480 Joseph Howe Dr,Suite 301, Halifax, NS B3L 4H7, Canada

[38] Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94115 USA

[39] Yale New Haven Childrens Hosp, New Haven, CT 06520 USA

[40] Yonsei Univ Coll Med, Endocrine Res Inst, Dept Internal Med, Seoul, South Korea

[41] Childrens Mercy Kansas City, Div Clin Pharmacol Toxicol & Therapeut Innovat, Kansas City, MO 64108 USA

[42] Univ Missouri, Sch Med, Dept Pediat, Kansas City, MO 64108 USA

[43] Univ Med Ctr Goettingen, Dept Trauma Orthoped Surg & Plast Surg, Gottingen, Germany

[44] MVZ Endokrinologikum Goettingen, Gottingen, Germany

[45] UCLA, Sch Dent, Div Diagnost & Surg Sci, Los Angeles, CA 90095 USA

[46] George Washington Univ, Sch Med & Hlth Sci, Dept Orthoped, Washington, DC 20037 USA

[47] McMaster Univ, Dept Med, Hamilton, ON L8S 4L8, Canada

[48] MAGIC Evidence Ecosyst Fdn, N-0456 Oslo, Norway

[49] Univ Vita Salute San Raffaele, Inst Endocrine & Metab Sci, I-20132 Milan, Italy

[50] IRCCS, I-20132 Milan, Italy

来源：

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 2025年

关键词：

X-linked hypophosphatemia (XLH); clinical practice guidelines; consensus; pediatrics; children; rickets; GROWTH-HORMONE TREATMENT; D-RESISTANT RICKETS; VITAMIN-D; NUTRITIONAL RICKETS; CONVENTIONAL THERAPY; DECIDUOUS TEETH; BONE; CALCIUM; DENTIN; NEPHROCALCINOSIS;

D O I：

10.1210/clinem/dgaf093

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Context An International Working Group (IWG) developed new guidelines on the diagnosis, evaluation, management, and monitoring of X-linked hypophosphatemia (XLH) in children. Over the past 5 years, important advances have occurred in our understanding of the presentation, complications, and treatment of XLH.Methods A group of 50 international experts in XLH from Canada, the United States, Europe, Asia, and South America, along with methodology experts and a patient partner, held 18 teleconference meetings in 2023-2024. These meetings addressed key issues regarding diagnosing, evaluating, managing, and monitoring XLH in children. Two systematic reviews were conducted to examine the impact of burosumab compared to conventional therapy (phosphate salts and active vitamin D) or no therapy, and to assess the impact of conventional therapy vs no therapy on patient-important outcomes. The certainty of evidence was evaluated using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology. Additionally, narrative reviews were completed on XLH diagnosis and the role of genetic testing, and an expert clinical practice survey informed the monitoring recommendations.Outcomes An approach to establishing the diagnosis of XLH is presented. GRADEd recommendations were developed on treatment strategies for XLH in children. Monitoring recommendations, GRADEd as weak with very low certainty, were based on clinical practice survey of the IWG experts. The guidelines also addressed dental complications and proposed potential strategies to mitigate them.Conclusion These clinical practice guidelines provide an update of the current evidence on the diagnosis and management of XLH and provide a comprehensive guidance for multidisciplinary healthcare professionals involved in the care of children with XLH.

引用

页数：16

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