Schwartz Ida Vanessa D, Göker-Alpan Özlem, Kishnani Priya S, Zimran Ari, Renault Lydie, Panahloo Zoya, Deegan Patrick
Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Mol Genet Metab Rep. 2017 Dec 27;14:73-79. doi: 10.1016/j.ymgmr.2017.10.011. eCollection 2018 Mar.
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited understanding of type 3 GD (GD3) and its natural history in patients irrespective of their treatment status. Here, we describe the disease characteristics of patients with GD3 enrolled in GOS. As of October 2015, 1002 patients had been enrolled, 26 of whom were reported as GD3. The majority of patients with GD3 were from the US (13; 50.0%), seven (26.9%) were from the UK, three (11.5%) from Israel, and three (11.5%) from Brazil. No patients were of Ashkenazi Jewish origin. Median age of symptom onset was 1.4 (interquartile range: 0.5-2.0) years. The most common mutation genotype was L444P/L444P, occurring in 16 (69.6%) of 23 patients who had genotyping information available. Nine patients reported a family history of GD (any type). Of 21 patients with treatment status information, 20 (95.2%) had received GD-specific treatment at any time, primarily imiglucerase (14 patients) and/or velaglucerase alfa (13 patients). Hemoglobin concentrations and platelet counts at GOS entry were within normal ranges for most patients, and there were no reports of severe hepatomegaly or of splenomegaly in non-splenectomized patients, most likely indicative of the effects of treatment received prior to GOS entry. This analysis provides information on the characteristics of patients with GD3 that could be used as the baseline for longitudinal follow-up of these patients.
戈谢病结局调查（GOS）是一项于2010年设立的针对确诊戈谢病（GD）患者的国际疾病特异性登记系统，无论其GD类型或治疗状态如何。从历史上看，无论治疗状态如何，对3型戈谢病（GD3）及其自然病史的了解都很有限。在此，我们描述了纳入GOS的GD3患者的疾病特征。截至2015年10月，已登记1002例患者，其中26例报告为GD3。大多数GD3患者来自美国（13例；50.0%），7例（26.9%）来自英国，3例（11.5%）来自以色列，3例（11.5%）来自巴西。没有患者是阿什肯纳兹犹太裔。症状出现的中位年龄为1.4岁（四分位间距：0.5 - 2.0岁）。最常见的突变基因型是L444P/L444P，在有基因分型信息的23例患者中的16例（69.6%）中出现。9例患者报告有GD（任何类型）家族史。在有治疗状态信息的21例患者中，20例（95.2%）曾在任何时间接受过GD特异性治疗，主要是伊米苷酶（14例患者）和/或维拉苷酶α（13例患者）。大多数患者在进入GOS时血红蛋白浓度和血小板计数在正常范围内，并且在未行脾切除术的患者中没有严重肝肿大或脾肿大的报告，这很可能表明在进入GOS之前接受的治疗的效果。该分析提供了关于GD3患者特征的信息，可作为这些患者纵向随访的基线。
