Molecular Genetics and Metabolism ( IF 3.7 ) Pub Date : 2021-08-13 , DOI: 10.1016/j.ymgme.2021.08.004 Praveena Narayanan 1 , Shiny Nair 1 , Manisha Balwani 2 , Maricar Malinis 3 , Pramod Mistry 1
Introduction
The impact of SARS-CoV-2 in rare disease populations has been underreported. Gaucher disease (GD) is a prototype rare disease that shares with SARS-CoV-2 a disruption of the lysosomal pathway.
Materials-methods
Retrospective analysis of 11 patients with Type 1 GD who developed COVID-19 between March 2020 and March 2021.
Results
Seven male and 4 female patients with Type 1 GD developed COVID-19. One was a pediatric patient (8 years old) while the remainder were adults, median age of 44 years old (range 21 to 64 years old). Two patients required hospitalization though none required intensive care or intubation. All 11 patients recovered from COVID-19 and there were no reported deaths.
Conclusions
Our case series suggests that GD patients acquired COVID-19 at a similar frequency as the general population, though experienced a milder overall course despite harboring underlying immune system dysfunction and other known co-morbidities that confer high risk of adverse outcomes from SARS-CoV-2 infection.
中文翻译:
SARS-CoV-2 感染在戈谢病中的临床表现:破坏免疫系统的大流行病和罕见病的影响
介绍
SARS-CoV-2 对罕见疾病人群的影响一直被低估。戈谢病 (GD) 是一种原型罕见病,与 SARS-CoV-2 一样,都破坏了溶酶体通路。
材料方法
对 2020 年 3 月至 2021 年 3 月期间发生 COVID-19 的 11 名 1 型 GD 患者的回顾性分析。
结果
7 名男性和 4 名女性 1 型 GD 患者患上了 COVID-19。一名是儿科患者(8 岁),其余为成人,中位年龄为 44 岁(范围 21 至 64 岁)。两名患者需要住院治疗,但没有人需要重症监护或插管。所有 11 名患者都从 COVID-19 中康复,没有死亡报告。
结论
我们的病例系列表明,GD 患者获得 COVID-19 的频率与普通人群相似,尽管尽管存在潜在的免疫系统功能障碍和其他已知的合并症,但总体病程较轻,这些合并症会带来 SARS-CoV 不良后果的高风险- 2感染。