İstinye University Faculty of Medicine, Department of Pediatric Hematology Oncology, İstanbul, Turkey
Eskisehir Osmangazi University Faculty of Medicine, Department of Hematology, Eskişehir, Turkey
Turk J Haematol. 2022 Jun 1;39(2):136-139. doi: 10.4274/tjh.galenos.2021.2021.0683. Epub 2022 Apr 20.
Gaucher disease (GD) is a rare hereditary lysosomal storage disease that arises due to deficiency of glucocerebrosidase. Early diagnosis is very important for starting proper treatment and preventing complications. Splenomegaly, anemia, and thrombocytopenia are the most common findings in GD and so most patients are initially referred to hematologists. The Turkish Society of Hematology established its Rare Hematological Diseases Subcommittee in 2015. One of the main topics of this subcommittee was to increase and improve awareness and education of rare diseases among hematologists in Turkey. This review presents GD with an overview of its clinical features, pathophysiology, and treatment options for hematologists.
戈谢病（GD）是一种罕见的遗传性溶酶体贮积病，由于葡萄糖脑苷脂酶的缺乏而引起。早期诊断对于开始适当的治疗和预防并发症非常重要。脾肿大、贫血和血小板减少是 GD 最常见的表现，因此大多数患者最初被转介给血液科医生。土耳其血液学会于 2015 年成立了罕见血液疾病小组委员会。该小组委员会的主要议题之一是提高和加强土耳其血液科医生对罕见疾病的认识和教育。这篇综述介绍了 GD，概述了其临床特征、病理生理学和治疗选择。
