法布雷病（Fabry disease，FD），一种罕见的遗传性溶酶体贮积病，因GLA基因突变导致其编码的α-半乳糖苷酶A活性降低，进而导致三己糖酰基鞘脂醇（GL-3）及其衍生物在多个器官内贮积，造成患者健康严重损害。这种病在全世界的发病率约为1/100000，是一种可致命的疾病，尤其是肾脏、心脏和神经系统的损伤严重影响了患者的生活质量。更令人痛心的是，法布雷病已被列入中国首批罕见病目录，而因其罕见 ...

让我们先来看一个真实的案例。一位47岁的女性患者，主诉蛋白尿20余年，最终被诊断为法布雷病合并慢性肾脏病。她曾接受过多次手术，包括卵巢囊肿术、畸胎瘤术、心肌肥厚切除术和永久性双腔起搏器植入术。她的病情复杂，涉及多个器官系统，包括肾脏、心脏、皮肤等。

Fabry's disease is an inherited condition that develops due to a mutation in the GLA gene. For most patients with this disease, the mutation causes the body to produce insufficient amounts of ...

The following is a summary of “Cutaneous manifestations of Fabry disease: A systematic review,” published in the March 2025 ...

Purpose: We investigated the bone mineral status in patients with untreated Fabry disease (FD). Methods: Descriptive, cross-sectional study in 53 patients with FD investigating bone mineral ...

Brian has Fabry disease, a lysosomal storage disorder that can cause a variety of symptoms. Start the day smarter. Get all the news you need in your inbox each morning. “It's a condition where ...

Around 1,000 patients with rare diseases are registered with Centres of Excellence in India. The government allocated ...

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The National Kidney Foundation (NKF) is proud to announce that its KidneyCARE (Community Access to Research Equity)™ Study – ...

Sangamo Therapeutics Inc (SGMO) reports significant progress in its Fabry disease program and neurology therapies, while navigating financial hurdles and partnership negotiations.