PDF(Pubmed)
Abstract：
Fabry disease is a rare X-linked lysosomal storage disorder that leads to the accumulation of globotriaosylceramide (Gb3) across various tissues, stemming from a deficiency in alpha-galactosidase A (GLA). This condition is characterized by a spectrum of clinical manifestations that can significantly complicate diagnosis. Classical symptoms typically include neuropathic pain, angiokeratomas, and significant involvement of the renal and cardiac systems. However, atypical presentations may obscure the underlying diagnosis, emphasizing the importance of maintaining a high level of clinical suspicion. This case report details the diagnostic journey of a 24-year-old female who initially presented with nephrotic syndrome, a presentation not commonly associated with Fabry disease. Subsequent genetic testing revealed a pathogenic variant in the GLA gene, confirming Fabry disease and highlighting the critical need for genetic analysis in cases of unexplained renal pathology. This case underscores the variability of Fabry disease presentations and the pivotal role of comprehensive diagnostic strategies in uncovering this complex disorder.
摘要：
Fabry病是一种罕见的X连锁溶酶体贮积症，可导致球形神经酰胺（Gb3）在各种组织中积累，源于α-半乳糖苷酶A（GLA）的缺乏。这种情况的特征在于一系列临床表现，可以使诊断显着复杂化。经典症状通常包括神经性疼痛，血管角膜瘤,以及肾脏和心脏系统的显著受累。然而,非典型的表现可能会掩盖潜在的诊断，强调保持高水平临床怀疑的重要性。此病例报告详细介绍了一名24岁女性的诊断过程，该女性最初患有肾病综合征，通常与法布里病无关的表现。随后的基因检测揭示了GLA基因的致病变异，确认法布里病，并强调在无法解释的肾脏病理情况下进行遗传分析的迫切需要。此病例强调了法布里病表现的变异性以及综合诊断策略在发现这种复杂疾病中的关键作用。
