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

6 hours ago

Fabry disease (FD) is a rare multisystemic lysosomal storage disorder with diverse pediatric manifestations.
A multicenter study analyzed 64 children with FD from the Chinese Children Genetic Kidney Disease Database.
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).
Males had markedly reduced α-Gal A activity (0.6 ±0.4 μmol/L/h), and most patients showed elevated globotriaosylsphingosine (Lyso-GL-3).
Neuropathic pain was the most common initial symptom (52.2% males, 27.8% females; median onset 8 years), primarily acroparesthesia.
Other frequent features included anhidrosis/hypohidrosis (58.7% males, 11.1% females).
Multisystem involvement included cardiac, pulmonary, skeletal, and renal manifestations.
Thirty-seven patients received enzyme replacement therapy at median ages of 12.9 years (males) and 11.7 years (females).
The study highlights substantial diagnostic delays and underscores the importance of multidisciplinary team (MDT) collaboration, family screening, and early recognition to improve outcomes.

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