Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey.
Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey.
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DOI：
10.1016/j.ymgmr.2017.10.011
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发表时间：
2018-03
影响因子：
1.9
通讯作者：
GOS Study group
中科院分区：
文献类型：
--
作者：
Schwartz IVD;Göker-Alpan Ö;Kishnani PS;Zimran A;Renault L;Panahloo Z;Deegan P;GOS Study group
戈谢病结局调查（GOS）是2010年针对确诊戈谢病（GD）的患者建立的国际疾病特异性登记研究，不考虑GD类型或治疗状态。从历史上看，无论患者的治疗状态如何，对3型GD（GD 3）及其自然史的了解有限。在这里，我们描述了GOS招募的GD 3患者的疾病特征。截至2015年10月，已入组1002例患者，其中26例报告为GD 3。大多数GD 3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。没有患者是德系犹太人。症状发作的中位年龄为1.4（四分位距：0.5-2.0）岁。最常见的GBA 1突变基因型为L444 P/L444 P，发生在23例有基因分型信息的患者中的16例（69.6%）。9例患者报告了GD家族史（任何类型）。在21例有治疗状态信息的患者中，20例（95.2%）在任何时间接受了GD特异性治疗，主要是伊米苷酶（14例患者）和/或velaglucerase alfa（13例患者）。大多数患者入组GOS时的血红蛋白浓度和血小板计数在正常范围内，未切除脾的患者中没有重度肝肿大或脾肿大的报告，这很可能表明入组GOS前接受的治疗的影响。该分析提供了GD 3患者特征的信息，可用作这些患者纵向随访的基线。
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 GBA1 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.
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影响因子：
5.1
作者：
Goker-Alpan, O;Schiffmann, R;Sidransky, E
通讯作者：
Sidransky, E
影响因子：
5.3
作者：
Narita A;Shirai K;Itamura S;Matsuda A;Ishihara A;Matsushita K;Fukuda C;Kubota N;Takayama R;Shigematsu H;Hayashi A;Kumada T;Yuge K;Watanabe Y;Kosugi S;Nishida H;Kimura Y;Endo Y;Higaki K;Nanba E;Nishimura Y;Tamasaki A;Togawa M;Saito Y;Maegaki Y;Ohno K;Suzuki Y
通讯作者：
Suzuki Y
影响因子：
4.2
作者：
Tylki-Szymanska, Anna;Vellodi, Ashok;Kolodny, Edwin
通讯作者：
Kolodny, Edwin
影响因子：
--
作者：
Charrow, J;Andersson, HC;Zimran, A
通讯作者：
Zimran, A
影响因子：
5.1
作者：
Altarescu, G;Hill, S;Tournay, A
通讯作者：
Tournay, A