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

医学 酶替代疗法 法布里病 儿科 蛋白尿 错义突变 不利影响 尿检 疾病 内科学 血管角化瘤 泌尿系统 病理 表型 生物化学 化学 基因
作者
Zhihong Lu,J J Wang,Lingling Yu,Jianghong Mao
出处
期刊:Chinese journal of pediatrics 卷期号:59 (4): 322-326 被引量:3
标识
DOI:10.3760/cma.j.cn112140-20200902-00842
摘要

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.
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