Clinical features and enzyme replacement therapy in 4 children with Fabry disease
10.3760/cma.j.cn112140-20200902-00842
- VernacularTitle:法布里病患儿临床特点及酶替代治疗四例初探
- Author:
Zhihong LU
1
;
Jingjing WANG
;
Ling YU
;
Jianhua MAO
Author Information
1. 浙江大学医学院附属儿童医院肾脏内科 国家儿童健康与疾病临床医学研究中心，杭州 310052
- Keywords:
Fabry disease;
Child;
Enzyme therapy
- From:
Chinese Journal of Pediatrics
2021;59(4):322-326
- CountryChina
- Language:Chinese
-
Abstract:
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.
