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已发表论文
MDT指导的儿童法布雷病综合管理临床实践：单中心病例系列
Authors Liu Y, Liu X, Yang M , Wang Q, Xu W, Zeng J, Han T, Mao H, Qian S
Received 15 September 2025
Accepted for publication 8 January 2026
Published 27 January 2026 Volume 2026:19 537644
DOI https://doi.org/10.2147/JMDH.S537644
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Professor Charles V Pollack
Yingchao Liu,1,* Xiaorong Liu,2,* Mei Yang,3 Quan Wang,1 Wenmiao Xu,1 Jiansheng Zeng,1 Tongxin Han,4 Huawei Mao,4 Suyun Qian1
1Pediatric Intensive Care Unit, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, People’s Republic of China; 2Department of Nephrology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, People’s Republic of China; 3Department of Pharmacy, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, People’s Republic of China; 4Department of Rheumatology and Immunology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, People’s Republic of China
*These authors contributed equally to this work
Correspondence: Suyun Qian, Pediatric Intensive Care Unit, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, No. 56 Nan-Li-Shi Road, Beijing, 100045, People’s Republic of China, Tel +8610 59616767, Fax +8610 59718700, Email syqian2020@163.com Huawei Mao, Department of Rheumatology and Immunology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, No. 56 Nan-Li-Shi Road, Beijing, 100045, People’s Republic of China, Tel +8610 59616316, Fax +8610 59718700, Email maohwei@qq.com
Purpose: This study aimed to illustrate the practical application and preliminary outcomes of a multidisciplinary team (MDT) approach in managing pediatric Fabry disease (FD), and provide a reference for the clinical management of this rare disease.
Methods: This single-center, prospective, observational case series was conducted at Beijing Children’s Hospital. Between March 2021 and February 2024, five pediatric patients with FD who were managed by a dedicated MDT were enrolled. The MDT operated under a model of “identification and initiation in outpatient clinics, overall management by the core team, and specialist consultation as needed.” The workflow covered a dual-path diagnostic pathway (MDT-initiated or external referral), pedigree screening, baseline assessment, individualized treatment, and long-term follow-up.
Results: Five pediatric FD probands were enrolled, with four diagnosed through the MDT-initiated pathway and one via external referral. For the four newly diagnosed patients, the MDT achieved a definitive diagnosis within 15– 30 days of its engagement, despite a prior diagnostic odyssey of 2.0– 5.9 years. Pedigree screening identified an asymptomatic sibling, enabling pre-symptomatic diagnosis. All patients commenced enzyme replacement therapy (ERT, agalsidase α) and did not develop adverse events. Through MDT coordination, they currently maintain continuous ERT at medical institutions with a travel time of 20 minutes to 2 hours. MDT-guided pain treatment, primarily with oxcarbazepine, effectively controlled neuropathic pain in most cases and improved quality of life. Psychosocial support alleviated family burdens, achieving treatment cost reimbursement rates of 60%– 85%. At one-year follow-up, symptomatic improvement and significant reductions in globotriaosylsphingosine (Lyso-GL-3) levels were observed.
Conclusion: The structured MDT approach facilitated accelerated diagnosis, early intervention, and comprehensive care in this pediatric FD cohort, yielding positive short-term outcomes and providing a practical reference for rare disease management.
Keywords: Fabry disease, rare disease, pediatrics, multidisciplinary team, clinical practice
1Pediatric Intensive Care Unit, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, People’s Republic of China; 2Department of Nephrology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, People’s Republic of China; 3Department of Pharmacy, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, People’s Republic of China; 4Department of Rheumatology and Immunology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, People’s Republic of China
*These authors contributed equally to this work
Correspondence: Suyun Qian, Pediatric Intensive Care Unit, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, No. 56 Nan-Li-Shi Road, Beijing, 100045, People’s Republic of China, Tel +8610 59616767, Fax +8610 59718700, Email syqian2020@163.com Huawei Mao, Department of Rheumatology and Immunology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, No. 56 Nan-Li-Shi Road, Beijing, 100045, People’s Republic of China, Tel +8610 59616316, Fax +8610 59718700, Email maohwei@qq.com
Purpose: This study aimed to illustrate the practical application and preliminary outcomes of a multidisciplinary team (MDT) approach in managing pediatric Fabry disease (FD), and provide a reference for the clinical management of this rare disease.
Methods: This single-center, prospective, observational case series was conducted at Beijing Children’s Hospital. Between March 2021 and February 2024, five pediatric patients with FD who were managed by a dedicated MDT were enrolled. The MDT operated under a model of “identification and initiation in outpatient clinics, overall management by the core team, and specialist consultation as needed.” The workflow covered a dual-path diagnostic pathway (MDT-initiated or external referral), pedigree screening, baseline assessment, individualized treatment, and long-term follow-up.
Results: Five pediatric FD probands were enrolled, with four diagnosed through the MDT-initiated pathway and one via external referral. For the four newly diagnosed patients, the MDT achieved a definitive diagnosis within 15– 30 days of its engagement, despite a prior diagnostic odyssey of 2.0– 5.9 years. Pedigree screening identified an asymptomatic sibling, enabling pre-symptomatic diagnosis. All patients commenced enzyme replacement therapy (ERT, agalsidase α) and did not develop adverse events. Through MDT coordination, they currently maintain continuous ERT at medical institutions with a travel time of 20 minutes to 2 hours. MDT-guided pain treatment, primarily with oxcarbazepine, effectively controlled neuropathic pain in most cases and improved quality of life. Psychosocial support alleviated family burdens, achieving treatment cost reimbursement rates of 60%– 85%. At one-year follow-up, symptomatic improvement and significant reductions in globotriaosylsphingosine (Lyso-GL-3) levels were observed.
Conclusion: The structured MDT approach facilitated accelerated diagnosis, early intervention, and comprehensive care in this pediatric FD cohort, yielding positive short-term outcomes and providing a practical reference for rare disease management.
Keywords: Fabry disease, rare disease, pediatrics, multidisciplinary team, clinical practice