法布里病的诊断患者手术修复先天性心脏缺陷:当临床病史和遗传学的差异

IF 0.5 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Cardiogenetics Pub Date : 2022-02-25 DOI:10.3390/cardiogenetics12010010
M. Rubino, E. Monda, M. Caiazza, G. Palmiero, M. Lioncino, A. Cirillo, A. Fusco, F. Verrillo, A. Perna, Gaetano Diana, Federica Amodio, A. Cesaro, G. Duro, B. Sarubbi, M. Russo, P. Calabrò, G. Limongelli
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引用次数: 1

摘要

法布里病(FD)是一种多器官疾病,它可以潜在地影响任何器官或组织,以心脏、肾脏和中枢神经系统为主要疾病目标。FD可根据特异性危险信号的存在进行怀疑,随后需要评估α-Gal A活性和GLA测序,以确认诊断,评估是否存在可调节的GLA突变,并在家庭成员中进行级联程序筛选。早期诊断是开始病原学治疗和防止不可逆转的器官损害的必要条件。在这里,我们描述了一个37岁的患者,他在童年时手术修复了先天性心脏缺陷,根据临床病史和针对性的遗传评估,他被诊断为FD。该病例强调了对FD进行正确的表型分型和明确诊断的重要性,对索引患者进行早期和适当的治疗,并进行级联临床和遗传筛查以确定其他有风险的家庭成员,这可能受益于特定治疗和/或密切随访。
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Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference
Fabry disease (FD) is a multiorgan disease, which can potentially affect any organ or tissue, with the heart, kidneys, and central nervous system representing the major disease targets. FD can be suspected based on the presence of specific red flags, and the subsequent evaluation of the α-Gal A activity and GLA sequencing, are required to confirm the diagnosis, to evaluate the presence of amenable GLA mutation, and to perform a cascade program screening in family members. An early diagnosis is required to start an etiological treatment and to prevent irreversible organ damage. Here, we describe a case of a 37-years-old patient, with a surgically repaired congenital heart defect in his childhood, who had a late diagnosis of FD based on the clinical history and targeted genetic evaluation. This case highlights the importance to perform a correct phenotyping and definite diagnosis of FD, to start an early and appropriate treatment in the index patient, and a cascade clinical and genetic screening to identify other family members at risk, which may benefit from specific treatment and/or a close follow-up.
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来源期刊
Cardiogenetics
Cardiogenetics CARDIAC & CARDIOVASCULAR SYSTEMS-
自引率
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发文量
26
审稿时长
11 weeks
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