Fabry disease is an X-linked lysosomal storage disease characterized by globotriaosyceramide accumulation because of genetic loss/deficiency of α-galactosidase A (α-Gal A) activity. Clinical symptoms of classic Fabry disease, such as acroparethesia and neuropathic pain, typically become apparent in childhood and adolescence. Clinical manifestations in adulthood include cardiac and renal diseases, which are the main causes of death. Life expectancy of untreated Fabry males is ≈50 years. Myocardial involvement in Fabry disease is potentially misdiagnosed as hypertrophic cardiomyopathy unless careful workup of the patient, including pathological and genetic tests, is performed. The presence of chronic kidney disease with proteinuria in patients with ventricular hypertrophy leads to further analyses for diagnosis of Fabry disease. Although deterioration of renal function, leading to end-stage renal disease, is a typical manifestation of classical Fabry disease, a cardiac variant of Fabry disease, often accompanied by mild proteinuria, has also been reported.

A 52-year-old man with ventricular hypertrophy and a history of acroparethesia during childhood was referred …

法布里病是由于遗传损失/α-半乳糖苷酶A（α-GalA）活性缺乏而导致的球型糖神经酰胺积聚，是一种X连锁的溶酶体贮积病。典型的法布里氏病的临床症状，如肢体感觉异常和神经性疼痛，通常在儿童和青少年时期就变得明显。成年期的临床表现包括心脏和肾脏疾病，这是死亡的主要原因。未经处理的法布里男性的预期寿命约为50岁。除非累加检查，包括病理和基因检查，否则心肌受累可能会被误诊为肥厚型心肌病。室性肥大患者中伴有蛋白尿的慢性肾脏疾病的存在导致对法布里病诊断的进一步分析。

提到了一名52岁的男子，他患有心室肥大，并在童年时期有肢体异常的病史…