Mistry Pramod K, Weinthal Joel A, Weinreb Neal J
Yale University School of Medicine, New Haven, Connecticut, USA.
Clin Adv Hematol Oncol. 2012 Jun;10(6 Suppl 8):1-16.
Gaucher disease is an inherited lysosomal storage disorder caused by mutations in the gene that encodes the lysosomal enzyme glucocerebrosidase. Inadequate enzymatic activity causes cells to become engorged due to an accumulation of glycolipids. Engorged cells then accumulate in various organs, resulting in a range of signs and symptoms. Gaucher disease occurs worldwide but is more common among individuals of Ashkenazi Jewish descent. Approximately 90% of patients with Gaucher disease have non-neuronopathic (type 1) disease, which is characterized by hematologic sequelae, potentially disabling skeletal complications, and late-onset neurologic complications. The other 2 subtypes of Gaucher disease cause neuronopathic disease, with early involvement of the central nervous system. Type 2 Gaucher disease results in death in infancy, while type 3 disease causes variable neurologic manifestations ranging from minimal ocular effects to seizures, ataxia, and cognitive regression. Because of its relative rarity, Gaucher disease often remains misdiagnosed or undiagnosed for some time. However, early diagnosis and appropriate treatment are essential for reducing the risk of complications, improving quality of life, and avoiding inappropriate procedures. Given the prevalence of hematologic manifestations associated with this condition, patients with undiagnosed Gaucher disease may seek treatment from hematologists or oncologists. Therefore, hematology and oncology clinicians need to be aware of the potential for Gaucher disease and consider it in their differential diagnosis.
戈谢病是一种遗传性溶酶体贮积症，由编码溶酶体酶葡萄糖脑苷脂酶的基因突变引起。酶活性不足导致细胞因糖脂蓄积而肿胀。肿胀的细胞随后在各个器官中积聚，导致一系列体征和症状。戈谢病在全球范围内均有发生，但在阿什肯纳兹犹太裔个体中更为常见。约90%的戈谢病患者患有非神经病变型（1型）疾病，其特征为血液学后遗症、可能导致残疾的骨骼并发症以及迟发性神经并发症。戈谢病的其他2个亚型会导致神经病变型疾病，中枢神经系统会早期受累。2型戈谢病导致婴儿期死亡，而3型疾病会引起从轻微眼部症状到癫痫、共济失调和认知衰退等各种神经表现。由于其相对罕见，戈谢病在一段时间内常常被误诊或漏诊。然而，早期诊断和适当治疗对于降低并发症风险、改善生活质量以及避免不适当的治疗至关重要。鉴于与该疾病相关的血液学表现较为普遍，未确诊的戈谢病患者可能会寻求血液科医生或肿瘤内科医生的治疗。因此，血液学和肿瘤内科临床医生需要意识到戈谢病的可能性，并在鉴别诊断中加以考虑。
