Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database
Year: 2025
Type: article
Study design: Observational Study
Abstract: Fabry disease (FD) is a rare multisystemic lysosomal storage disorder with diverse pediatric manifestations. This multicenter study analyzed 64 children with FD from the Chinese Children Genetic Kidney Disease Database following establishment of the first national pediatric FD multidisciplinary team (MDT) in April 2020, which expanded to 15 centers by January 2022. Median diagnostic age was 11.4 years in males and 9.4 years in females, with diagnostic delays of 4.4 and 4.0 years, respectively. Family screening accounted for most female diagnoses (72.2%), while 6.5% of males were incidentally detected during genetic testing for other diseases. Missense variants predominated (65.2% males, 66.7% females). Biochemically, males had markedly reduced α-Gal A activity (0.6 ± 0.4 μmol/L/h), and most patients showed elevated globotriaosylsphingosine (Lyso-GL-3), including 87.0% of males and 83.3% of females. Neuropathic pain was the most common initial symptom (52.2% males, 27.8% females; median onset 8 years), primarily acroparesthesia (92.1% and 85.7%, respectively). Other frequent features included anhidrosis/hypohidrosis (58.7% males, 11.1% females). Multisystem involvement included cardiac (arrhythmia n = 11, left ventricular hypertrophy n = 3), pulmonary (obstructive airway disease in 24.2% of males), skeletal (low bone mineral density in 4/7 tested males), and renal manifestations (reduced glomerular filtration rate (GFR) in 3). Thirty-seven patients received enzyme replacement therapy at median ages of 12.9 years (males) and 11.7 years (females). This first nationwide pediatric FD cohort highlights substantial diagnostic delays and underscores the importance of MDT collaboration, family screening, and early recognition to improve outcomes in affected children.
Authors: Jing Wang, Jialu Liu, Jing Chen, Aihua Zhang, Jianhua Mao, Tong Shen, Xiaoyun Jiang, Mo Wang, Yuhong Tao, Bo Zhao, Xiaowen Wang, Zhihui Li, Ai Chen, Chaoying Chen, Bili Zhang, Dongfeng Zhang, Lijun Zhao, Yuhua Zhao, Ying Bao, Ling Bai, Cuihua Liu, Feiyan Wang, Fangqi Hu, Meili Chen, Xueyun Lv, Shuzhen Sun, Qian Shen, Hong Xu
Institutions: Shandong Provincial Hospital, Shandong First Medical University, Fudan University, Children's Hospital of Fudan University, Second Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Children's Hospital of Zhejiang University, Zhejiang University, Xiamen Maternal and Child Health Hospital, The First Affiliated Hospital, Sun Yat-sen University, Children's Hospital of Chongqing Medical University, Chongqing Medical University, Sichuan University, West China Second University Hospital of Sichuan University, Kunming Children's Hospital, Wuhan Children's Hospital, Hunan Children's Hospital, West China Medical Center of Sichuan University, Chengdu Second People's Hospital, Capital Institute of Pediatrics, Children's Hospital of Capital Institute of Pediatrics, Tianjin Children's Hospital, Inner Mongolia Maternal and Child Health, Xi’an Children’s Hospital, Zhengzhou Children's Hospital, Anqing City Hospital, First Affiliated Hospital of Anhui Medical University, Liaocheng People's Hospital
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
Funder: Fudan University
Award: G8401684499
OpenAlex ID: W7117366685