每日一题_2024.09.14

A 44-year-old man presented with a 5-year history of heat intolerance and burning pain in his hands and feet. He also had exertional dyspnea, decreased perspiration, sinus tachycardia, and proteinuria of unclear cause. On physical examination, there were periumbilical vascular skin lesions that had been present for the previous 20 years. A sample from a 24-hour urine collection showed non-nephrotic proteinuria. What is the most likely diagnosis?

一位44岁男性患者，有5年的耐热性差和手脚灼热疼痛的病史。他还出现了劳累性呼吸困难、出汗减少、窦性心动过速和原因不明的蛋白尿。体格检查发现脐周血管皮肤病变，这些病变在过去20年中一直存在。24小时尿液样本显示非肾病性蛋白尿。最可能的诊断是什么？

A. Diabetes Mellitus糖尿病

B. Fabry’s disease法布里病

C. IgG4-related diseaseIgG4相关疾病

D. Porphyria卟啉病

E. Systemic AL amyloidosis系统性AL淀粉样变性

答案解析：

法布里病是一种X连锁遗传的溶酶体贮积症，由于α-半乳糖苷酶A（α-Gal A）活性缺乏或显著降低导致神经酰胺三己糖苷（GL-3）在多个器官中贮积。患者可能会出现热不耐受、手脚烧灼感（尤其是温度变化时）、皮肤血管角质瘤、蛋白尿、以及心血管和神经系统症状。诊断通常需要通过检测α-Gal A酶活性、基因检测、血浆GL-3水平等方法来确定。组织病理学活检也可能显示特征性的“髓样小体”。

正确答案：B