[Clinical features and enzyme replacement therapy in 4 children with Fabry disease].

Objective

To analyze the clinical features and efficacy of enzyme replacement therapy in 4 children with Fabry disease.

Methods

A retrospective analysis of the clinical manifestations, laboratory findings, genetic variations and treatment were conducted in 4 children with Fabry disease in Children's Hospital of Zhejiang University School of Medicine from January 2014 to July 2020.

Results

All four children (2 males, 2 females) with onset age of 12.4 (6.0-16.8) years were diagnosed based on clinical features, α-Gal A enzyme activity, genetic analysis and family history. The clinical manifestations varied in 4 children. All patients had left ventricular hypertrophy and abnormal urinalysis results, 1 case of neuropathic pain, 2 cases of hypohidrosis, 1 case of insipidus, but no angiokeratomas or hearing abnormalities were found. Three missense mutations of GLA gene were identified: c.424T>C (p.C142R), C.335G>A (p.R112H) and c.644A>G (p.N215S). The first two gene mutations were classical phenotypes, and the last one had also been reported in a classic case. In Case 1, no severe adverse events were reported in the first two months of agalsidase beta treatment. The dosage was 1 mg/kg once every 2 weeks. Symptoms of pain intensity and hypohidrosis were improved. Transiently elevated proteinuria was observed but it returned to normal after a week without any treatment.

Conclusions

Clinical manifestations of Fabry disease varied in childhood. Multidisciplinary collaboration is required for its early diagnosis and treatment. Severe adverse events are rare in children with short-term therapy of agalsidase beta.