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Kidney Week

Abstract: SA-PO806

Multidisciplinary Approach to Assessment and Management of Children with Fabry Disease: A Multicentre Study

Session Information

Category: Genetic Diseases of the Kidneys

  • 1202 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Jialu, Liu, Children's Hospital of Fudan University, Shanghai, China
  • Xu, Hong, Children's Hospital of Fudan University, Shanghai, China
  • Shen, Qian, Children's Hospital of Fudan University, Shanghai, China

Group or Team Name

  • Internet Plus Nephrology Alliance of the National Center for Children's Care.
Background

Considering the diversity manifestations of Fabry disease (FD) in chlidren, methods to improve screening and management of the suspects are needed. In April 2020, our hospital established China's first multidisciplinary diagnosis and treatment team (MDT) for children with FD, from July 2021 to January 2022, the MDT promoted to 15 centers in China.

Methods

This study summarizes characteristics and treatment of 45 children diagnosed with FD before January 1, 2023 by pediatric MDT teams of 21 centers in China. Data were derived from a multicenter network (Chinese Children Genetic Kidney Disease Database). A questionnaire specifically designed.

Results

Diagnostic median age was 10.9 year in males and 9.8 year in females, 26.4% in males and 81.8% in females were diagnosed by family screening, 11.8% in males were diagnosed by genetic test for other genetic disorders. At enrollment (median age 12.0 year), 29 (85.3%) of males and 5 (45.0%) of females reported symptoms (Fig1, 2). The median age of symptom onset was 6.7 year in males and 8.0 year in females. The most frequent symptom, neuropathic pain, was reported by 79.4% of males (median age 8 year) and 45.0% of females (median age 9 year). Anhidrosis or hypohidrosis were reported by 48.9%. 50% of males underwent lung function evaluation indicated obstructive respiratory diseases. 4 Of the 6 males developed Low bone mineral density. A few patients had serious manifestations, stage 5 chronic kidney disease (n=1), arrhythmia (n=4), and left ventricular hypertrophy (n=3). 22 had received agalsidase (start at median age 13.7 year in males and 13.5 year in females).

Conclusion

We provide an overview of the multicenter network of MDT for children with FD in China.