Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database

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 <i>n</i> = 11, left ventricular hypertrophy <i>n</i> = 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.

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Journal
Intractable & Rare Diseases Research
Published
2025-12-26
DOI
https://doi.org/10.5582/irdr.2025.01070
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
0.00

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article

Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database

Xiaowen Wang, A. Chen, Ying Bao, Ling Bai et al.
Intractable & Rare Diseases Research
Lysosomal Storage Disorders Research
article

Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database

Xiaowen Wang, A. Chen, Ying Bao, Ling Bai, Qian Shen, Bili Zhang, Zhihui Li, Mo Wang, XM Jiang, ChaoYing Chen, Cuihua Liu, Shuzhen Sun, Xueyun Lv, Jianhua Mao, Jialu Liu, Feiyan Wang, Fangqi Hu, Tong Shen, Dongfeng Zhang, Jing Chen, Aihua Zhang, Lijun Zhao, Jing Wang, Bo Zhao, Hong Xu, Meili Chen, Yuhua Zhao, Yuhong Tao
article en

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 <i>n</i> = 11, left ventricular hypertrophy <i>n</i> = 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.

Intractable & Rare Diseases ResearchVol. 15(1)
National Kidney Foundation (US), Sun Yat-sen University (CN), Anhui Medical University (CN), Sichuan University (CN), West China Second University Hospital of Sichuan University (CN), Hospital of Hebei Province (CN), Nanjing Children's Hospital (CN), Kunming Children's Hospital (CN), Urumqi 4th People's Hospital (CN), Capital Institute of Pediatrics (CN), Zhengzhou Children's Hospital (CN), Children's Hospital of Zhejiang University (CN), Tianjin Children's Hospital (CN), Shandong Provincial Hospital (CN), People's Hospital of Xinjiang Uygur Autonomous Region (CN), The First Affiliated Hospital, Sun Yat-sen University (CN), Hunan Children's Hospital (CN), Anqing City Hospital (CN), First Affiliated Hospital of Anhui Medical University (CN), Xi’an Children’s Hospital (CN), Wuhan Children's Hospital (CN), Shanxi Provincial Children's Hospital (CN), Inner Mongolia Maternal and Child Health (CN), Children's Hospital of Chongqing Medical University (CN), Liaocheng People's Hospital (CN), Children's Hospital of Capital Institute of Pediatrics (CN), Shandong First Medical University (CN), Xiamen Maternal and Child Health Hospital (CN), Chongqing Medical University (CN)
Fudan University
Openalex Percentile: Top 32%
Lysosomal Storage Disorders Research
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