SEARCHGUIDELINESendocrinology, pediatrics

guidelines·endocrinology, pediatrics, internal medicine, pediatric ophthalmology, clinical nutrition·PMC10241092

Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care

JBMR Plus · 15 authors, 17 centres

AI SUMMARY

FIDELITY 100%

This summary was generated by AI from a single paper. It has not been reviewed by a clinician and is not clinical advice. Verify against the source before acting on it.

AGENT 01 · STRUCTURED SUMMARY

TRACE TO SOURCE

“

TL;DR

This paper presents consensus recommendations for the diagnosis and management of X-linked hypophosphatemia (XLH) in the Asia-Pacific region. It developed 16 evidence-based statements covering screening, multidisciplinary care, and the transition from pediatric to adult care.

Full summary

350 CHARS

The majority of supporting studies were observational. Statements on screening, diagnosis, and treatment had high-quality evidence, while evidence for transition care was limited. The final statements achieved high consensus and were rated as strong recommendations, providing specific guidance for clinical practice in diverse Asia-Pacific settings.

STUDY TYPE

guidelines

SPECIALTY

endocrinology

SUMMARISED BY

AI pipeline

FIDELITY CHECK

100% · A

ORIGINAL PAPER

PMC10241092

Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care

JBMR Plus

READ THE FULL PAPER

ABSTRACT

ABSTRACT X‐linked hypophosphatemia (XLH) is a rare, inherited, multisystem disorder characterized by hypophosphatemia that occurs secondary to renal phosphate wasting. Mutations in PHEX gene (located at Xp22.1) in XLH alter bone mineral metabolism, resulting in diverse skeletal, dental, and other extraskeletal abnormalities that become evident in early childhood and persist into adolescence and adult life. XLH impacts physical function, mobility, and quality of life, and is associated with substantial socioeconomic burden and health care resource utilization. As the burden of illness varies with age, an appropriate transition of care from childhood and adolescence to adulthood is necessary to meet growth‐related changes and minimize long‐term sequelae of the condition. Previous XLH guidelines that encompassed transition of care have focused on Western experience. Regional differences in resource availability warrant tailoring of recommendations to the Asia‐Pacific (APAC) context. Hence, a core expert panel of 15 pediatric and adult endocrinologists from nine countries/regions across APAC convened to formulate evidence‐based recommendations for optimizing XLH care. A comprehensive literature search on PubMed using MeSH and free‐text terms relevant to predetermined clinical questions on diagnosis, multidisciplinary management, and transition of care of XLH revealed 2171 abstracts. The abstracts were reviewed independently by two authors to shortlist a final of 164 articles. A total of 92 full‐text articles were finally selected for data extraction and drafting the consensus statements. Sixteen guiding statements were developed based on review of evidence and real‐world clinical experience. The GRADE criteria were used to appraise the quality of evidence supporting the statements. Subsequently, a Delphi technique was utilized to rate the agreement on statements; 38 XLH experts (15 core, 20 additional, 3 international) from 15 countries/regions (12 APAC, 3 EU) participated in the Delphi voting to further refine the statements. Statements 1–3 cover the screening and diagnosis of pediatric and adult XLH; we have defined the clinical, imaging, biochemical, and genetic criteria and raised red flags for the presumptive and confirmatory diagnosis of XLH. Statements 4–12 tackle elements of multidisciplinary management in XLH such as therapeutic goals and options, composition of the multidisciplinary team, follow‐up assessments, required monitoring schedules, and the role of telemedicine. Treatment with active vitamin D, oral phosphate, and burosumab is discussed in terms of applicability to APAC settings. We also expound on multidisciplinary care for different age groups (children, adolescents, adults) and pregnant or lactating women. Statements 13–15 address facets of the transition from pediatric to adult care: targets and timelines, roles and responsibilities of stakeholders, and process flow. We explain the use of validated questionnaires, desirable characteristics of a transition care clinic, and important components of a transfer letter. Lastly, strategies to improve XLH education to the medical community are also elaborated in statement 16. Overall, optimized care for XLH patients requires prompt diagnosis, timely multidisciplinary care, and a seamless transfer of care through the coordinated effort of pediatric and adult health care providers, nurse practitioners, parents or caregivers, and patients. To achieve this end, we provide specific guidance for clinical practice in APAC settings. © 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

CITATION EXPORT

Craig F Munns, Han‐Wook Yoo, Muhammad Yazid Jalaludin et al.. Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care. JBMR Plus. (2023). https://doi.org/10.1002/jbm4.10744

AUTHORS

15 · 17 CENTRES

Craig F Munns, Han‐Wook Yoo, Muhammad Yazid Jalaludin, Rashida Vasanwala, Manju Chandran, Yumie Rhee, Wai Man BUT, Alice Pik‐Shan Kong, Pen‐Hua Su, Nawaporn Numbenjapon, Noriyuki Namba, Yasuo Imanishi, Roderick J Clifton‐Bligh, Xiaoping Luo, Weibo Xia

1 Child Health Research Centre The University of Queensland Brisbane Australia
2 Department of Endocrinology and Diabetes Queensland Children's Hospital Brisbane Australia
3 Department of Pediatrics Bundang CHA Medical Center, CHA University School of Medicine Seongnam‐si Korea
4 Department of Pediatrics Faculty of Medicine, Universiti Malaya Kuala Lumpur Malaysia
5 Department of Paediatric Medicine Endocrine & Diabetes Service, KK Women's & Children's Hospital Singapore Singapore
6 Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital Singapore Singapore
7 Department of Internal Medicine Yonsei University College of Medicine Seoul Korea
8 Department of Pediatrics Queen Elizabeth Hospital Hong Kong
9 Department of Medicine & Therapeutics The Chinese University of Hong Kong Hong Kong
10 Department of Pediatrics Chung Shan Medical University Hospital Taichung Taiwan
11 School of Medicine Chung Shan Medical University Taichung Taiwan
12 Division of Endocrinology, Department of Pediatrics Phramongkutklao Hospital Bangkok Thailand
13 Department of Pediatrics and Perinatology Faculty of Medicine, Tottori University Tottori Japan
14 Department of Metabolism Endocrinology and Molecular Medicine, Osaka Metropolitan University Graduate School of Medicine Osaka Japan
15 Department of Endocrinology Royal North Shore Hospital, University of Sydney Sydney Australia
16 Department of Pediatrics Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan China
17 Department of Endocrinology, Key Laboratory of Endocrinology, NHC, State Key Laboratory of Complex Severe and Rare Diseases Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College Beijing China