Fabry病1例观察及文献复习  

Fabry disease:report of one case and review of literature

作　　者：周皓锬 陈东[1] 王家琪 郑梦晗 董方 吕强[2] 董建增[2] 梅少帅[1] 连国亮[1] ZHOU Hao-tan;CHEN Dong;WANG Jia-qi;ZHENG Meng-han;DONG Fang;LV Qiang;DONG Jian-zeng;MEI Shao-shuai;LIAN Guo-liang(Department of Pathology,the Beijing Anzhen Hospital of Capital Medical University,Beijing 100029,China;Department of Cardiology,the Beijing Anzhen Hospital of Capital Medical University,Beijing 100029,China)

机构地区：[1]首都医科大学附属北京安贞医院病理科,北京100029 [2]首都医科大学附属北京安贞医院心内科,北京100029

出　　处：《诊断病理学杂志》2023年第8期732-734,787,共4页Chinese Journal of Diagnostic Pathology

基　　金：北京市医院管理中心创新梦工厂经费资助(202114)

摘　　要：目的探讨Fabry病的临床病理特征、鉴别诊断、治疗及预后。方法分析1例Fabry病的临床及影像学资料、观察临床病理学特征并复习相关文献。结果患者,男性,68岁,因胸闷、气短、乏力,走快时呼吸困难,站起时加重3个月余入院。镜下观察心内膜心肌活检标本发现心内膜未见明显增厚,心肌细胞排列紊乱,心肌细胞增大,核大畸形,空泡变性,心肌间质纤维化。特殊染色结果:Masson染色呈阳性表达;刚果红染色、弹力染色、PTAH染色结果均为阴性。电镜检查结果:嗜锇性髓样小体。结论Fabry病是一种罕见的伴X染色体隐性遗传的溶酶体贮积病,需要与单纯肥厚型梗阻性心肌病、心脏淀粉样变性、Danon病及线粒体疾病等肥厚型心肌病相鉴别,其确诊需结合临床表现、组织病理学检查、酶活性、生物标志物及基因检测等结果。Objective To investigate the clinicopathological features,differential diagnosis,treatment and prognosis of Fabry disease.Methods The clinical and imaging data of one case of Fabry disease were analyzed and the clinicopathological features were observed.Results The patient,a 68-year-old male was admitted to the hospital for chest tightness,shortness of breath,fatigue,dyspnea when walking fast,and aggravation when standing up.The endocardium thickening was not observed under microscope.Microscopic examination of the endocardial myocardial biopsy specimen showed disordered array of cardiac muscle cells,enlargement of cardiomyocytes,large nuclear malformations,vacuolar degeneration,and myocardial interstitial fibrosis.Masson staining showed positive expression.Congo red staining,elastic staining and PTAH staining were negative.Electron microscope examination found osmiophilic myeloid bodies.Conclusion Fabry disease is a rare lysosomal storage disease with X chromosome recessive heredity.It needs to be distinguished from hypertrophic obstructive cardiomyopathy,cardiac amyloidosis,Danon disease,mitochondrial disease and other hypertrophic cardiomyopathy.The diagnosis of Fabry disease needs to be combined with clinical manifestations,histopathological examination,enzyme activity,biomarker and gene detection.

关 键 词：FABRY病 临床病理特征 电镜 基因测序 鉴别诊断 

分 类 号：R54[医药卫生—心血管疾病]