Roshan Lal Tamanna, Seehra Gurpreet K, Steward Alta M, Poffenberger Chelsie N, Ryan Emory, Tayebi Nahid, Lopez Grisel, Sidransky Ellen
From the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC.
Neurology. 2020 Oct 13;95(15):e2119-e2130. doi: 10.1212/WNL.0000000000010605. Epub 2020 Aug 6.
To gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols.
A structured interview was conducted with parents of living or deceased patients with GD2. Retrospective information obtained included disease presentation, progression, medical and surgical history, medications, family history, management, complications, and cause of death, as well as the impact of disease on families.
Data from 23 patients were analyzed (20 deceased and 3 living), showing a mean age at death of 19.2 months, ranging from 3 to 55 months. Fourteen patients were treated with enzyme replacement therapy, 2 were treated with substrate reduction therapy, and 3 underwent bone marrow transplantation. Five patients received ambroxol and one was on -acetylcysteine, both considered experimental treatments. Fifteen patients had gastrostomy tubes placed; 10 underwent tracheostomies. Neurologic disease manifestations included choking episodes, myoclonic jerks, autonomic dysfunction, apnea, seizures, and diminished blinking, all of which worsened as disease progressed.
Current available therapies appear to prolong life but do not alter neurologic manifestations. Despite aggressive therapeutic interventions, GD2 remains a progressive disorder with a devastating prognosis that may benefit from new treatment approaches.
收集自然病史数据，以更好地了解2型戈谢病（GD2）的病程变化，从而指导未来的干预方案。
对GD2患者（包括在世或已故患者）的父母进行了结构化访谈。获得的回顾性信息包括疾病表现、进展、医疗和手术史、用药情况、家族史、治疗管理、并发症、死因，以及疾病对家庭的影响。
分析了23例患者的数据（20例已故，3例在世），平均死亡年龄为19.2个月，范围为3至55个月。14例患者接受了酶替代疗法，2例接受了底物减少疗法，3例接受了骨髓移植。5例患者接受了氨溴索治疗，1例接受了N-乙酰半胱氨酸治疗，这两种治疗均被视为实验性治疗。15例患者放置了胃造瘘管；其中10例进行了气管切开术。神经系统疾病表现包括呛咳发作、肌阵挛、自主神经功能障碍、呼吸暂停、癫痫发作和眨眼减少，所有这些症状均随疾病进展而加重。
目前可用的治疗方法似乎可以延长生命，但不能改变神经系统表现。尽管采取了积极的治疗干预措施，GD2仍然是一种进行性疾病，预后极差，可能需要新的治疗方法。
