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首页> 外文期刊>Journal of Inborn Errors of Metabolism & Screening >The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina Genotype, Experiences, Anecdotes, and New Learnings
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The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina Genotype, Experiences, Anecdotes, and New Learnings

机译：诊断阿根廷法布里病患者的连续挑战基因型，经验，轶事和新知识

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摘要

The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the ???±-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase ???±-galactosidase A, leads to accumulation of its substrate globotriaosylceramide. Diagnosis of FD starts with clinical suspicion followed by confirmatory laboratory testing. The aim of this work is to report the 14 years?￠???? experience and learnings in the diagnosis of patients with Fabry disease in Argentina from a specialized lysosomal diseases diagnosis laboratory and to report the genotype characterization of the 25 families from Argentina with FD detected by us.
机译：溶酶体贮积病法布里病（FD）是由位于X染色体上的±半乳糖苷酶A基因的致病突变引起的。该基因的产物溶酶体水解酶β-半乳糖苷酶A的酶活性不足，导致其底物globotriaosylceramide的积累。 FD的诊断始于临床怀疑，然后进行实验室确认试验。这项工作的目的是报告14年？专家从溶酶体疾病诊断实验室在阿根廷法布里病患者的诊断中获得的经验和教训，并报告了我们检测到的来自FD的阿根廷25个家庭的基因型特征。

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