Fabry病临床报告及病理学研究

Clinical report and pathological study of Fabry disease

目的探讨Fabry病的临床特点及其病理学特征。方法通过1例Fabry病患者详细的临床资料,检索国内外相关资料,研究Fabry病的发病机制、临床特征、治疗及预后。结果典型的临床表现结合特征性病理改变可诊断Fabry病。结论Fabry病为罕见的代谢性遗传性疾病,加强对该病的认识,减少误诊,加强产前诊断可降低本病的发生率。

Objective To investigative clinical and pathological features of Fabry disease. Methods According to detailed clinical data of a patient with Fabry disease and related data in home and abroad, authors studied the pathogenic mechanism, clinical feature, therapy and prognosis of the disease. Results Diagnosis of Fabry disease might be depended on typical clinical manifestations and characteristic pathological changes. Conclusion Fabry disease is a uncommon metabolic genetic disease. The misdiagnosis can reduce if reinforcing the cognizance of the Fabry disease, and the incidence rate will reduce by fortifying prenatal diagnosis.