Pediatric Ambulatory Day Unit, Soroka Medical Center, Beer Sheva, Israel.
Metabolic Clinic, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University, Beer Sheva, Israel.
Orphanet J Rare Dis. 2021 Sep 8;16(1):379. doi: 10.1186/s13023-021-02007-9.
Severe acute respiratory syndrome coronavirus 2 (SARS CoV-2) is the causative agent of the current COVID-19 pandemic. Lysosomal storage disorders (LSD) comprise of 70 inherited inborn errors of metabolism. Affected individuals suffer from multi-systemic involvement with variable severity and rate of disease progression between different diseases. Some of the LSDs have established treatments, whether parenteral or oral therapies. The full impact of the COVID-19 pandemic together with the lockdown on the wellbeing and medical management of patients with rare diseases, such as LSDs, is widely unknown. Herein, we describe the effects of the COVID-19 pandemic and its associated mandatory home lockdown on patients with LSDs in Israel.
We present a prospective multi-center questionnaire study including 48 LSD patients from four medical centers in Israel. The study objective was to assess the impact of the COVID-19 pandemic restrictions on individuals with LSDs in Israel, as reported by their caregivers. Secondary objectives were to assess the morbidity from SARS CoV-2 in LSD patients and the impact of changes in mood and behavior on compliance to treatment and to assess the relationship between changes in mood to changes in cognition and behavior. Thirty one of 38 patients (82%) who received any kind of regular treatment did not miss treatments. Among patients receiving enzyme replacement therapy (ERT) in the in-hospital setting, 5 patients (20%) experienced treatment disruptions. Four patients had tested positive for SARS-Cov-2 virus infection by PCR. Seven out of the 48 patients (14%) described mood changes with cognitive and motor deterioration during the home quarantine.
We observed high rates of treatment adherence and low morbidity through the COVID-19 pandemic in patients with LSDs in Israel. LSDs patients can be a model for patients with complex chronic diseases requiring routine treatments and surveillance during a pandemic or other disruption of daily routine.
严重急性呼吸综合征冠状病毒 2（SARS-CoV-2）是当前 COVID-19 大流行的病原体。溶酶体贮积症（LSD）包括 70 种遗传性代谢性先天缺陷。受影响的个体多系统受累，不同疾病的疾病严重程度和进展速度不同。一些 LSD 已经有了既定的治疗方法，无论是肠外还是口服治疗。COVID-19 大流行以及对罕见疾病（如 LSD）患者的福利和医疗管理的强制性居家封锁的全面影响在很大程度上是未知的。在此，我们描述了 COVID-19 大流行及其相关的强制性居家封锁对以色列 LSD 患者的影响。
我们进行了一项前瞻性多中心问卷调查研究，纳入了以色列四家医疗中心的 48 名 LSD 患者。该研究的目的是评估 COVID-19 大流行限制对以色列 LSD 患者的影响，这是由他们的护理人员报告的。次要目标是评估 SARS-CoV-2 在 LSD 患者中的发病率，以及情绪和行为变化对治疗依从性的影响，并评估情绪变化与认知和行为变化之间的关系。接受任何形式常规治疗的 38 名患者中的 31 名（82%）未错过治疗。在接受住院 ERT 的患者中，有 5 名（20%）经历了治疗中断。有 4 名患者通过 PCR 检测出 SARS-Cov-2 病毒感染呈阳性。48 名患者中有 7 名（14%）在居家隔离期间描述了情绪变化，伴有认知和运动能力下降。
我们观察到在以色列 LSD 患者中，COVID-19 大流行期间治疗依从率较高，发病率较低。LSD 患者可以作为在大流行或其他日常生活中断期间需要常规治疗和监测的复杂慢性疾病患者的模型。
