Experiences of patients and their family members with metachromatic leukodystrophy, adrenoleukodystrophy, and Krabbe disease: a qualitative systematic review protocol
Experiences of patients and their family members with metachromatic leukodystrophy, adrenoleukodystrophy, and Krabbe disease: a qualitative systematic review protocol
复制标题
异染性脑白质营养不良、肾上腺脑白质营养不良和克拉伯病患者及其家人的经历：定性系统评价方案
DOI：
10.11124/jbies-22-00154
复制
发表时间：
2022
影响因子：
2.7
通讯作者：
Sakai Norio
中科院分区：
文献类型：
--
作者：
Koto Yuta;Ueki Shingo;Yamakawa Miyae;Sakai Norio
目的：本综述的目的是综合异染性脑白质营养不良 (MLD)、肾上腺脑白质营养不良 (ALD) 和克拉伯病患者的经历及其家人的经历。 简介：MLD、ALD 和克拉伯病是罕见疾病，被归类为溶酶体贮积症或过氧化物酶体疾病，与脑白质营养不良的表现相似。由于这些疾病由于与脱髓鞘相关的脑白质营养不良的进展而导致认知和神经功能下降，因此对患者及其家人的生活产生重大影响。重要的是要确定这些疾病对患者生活及其家庭的影响和挑战，并综合有关他们经历的定性研究。纳入标准：我们将考虑包括 MLD、ALD 或克拉伯病患者及其家庭成员的研究。这些经历将包括对症状和治疗的挑战、不满和沮丧；造血干细胞移植的并发症；随着疾病进展，护理人员的负担也会增加。这一点很重要，因为疾病进展的影响在医院以外的各种环境中都会受到影响，例如在社区和家里。方法：检索策略将遵循 JBI 方法并分 3 个步骤进行：初始有限检索、全面数据库检索和所包含文章的参考文献检索。 MEDLINE、CINAHL Plus、PsycINFO 和 Scopus 的检索不受语言或出版日期的限制。研究选择、批判性评估、数据提取和数据合成将根据 JBI 定性研究系统评价指南进行。最终合成将使用ConQual方法进行评估。系统评价注册号：PROSPERO CRD42022318805。简介溶酶体储存和过氧化物酶体疾病分别表现为溶酶体和过氧化物酶体功能受损，是由不同遗传病变引起的罕见且难治的先天性代谢错误。这些疾病在中枢神经系统中具有重叠的脑白质营养不良表型，包括异染性脑白质营养不良（MLD）、肾上腺脑白质营养不良（ALD）和克拉伯病（球状细胞脑白质营养不良）。具体来说，MLD和克拉伯病被归类为溶酶体贮积病，而ALD被归类为过氧化物酶体疾病。由于与脱髓鞘相关的脑白质营养不良的进展，它们会导致认知和神经功能下降，并损害日常功能，这对患者及其家人的生活产生重大影响。 1-3
Objective:The objective of this review is to synthesize the experiences of patients with metachromatic leukodystrophy (MLD), adrenoleukodystrophy (ALD), and Krabbe disease and the experiences of their family members.Introduction:MLD, ALD, and Krabbe disease are rare disorders that are classified as lysosomal storage or peroxisomal disorders, with similar presentations as leukodystrophy. As these diseases cause cognitive and neurological decline due to the progression of leukodystrophy associated with demyelination, they have significant impact on the lives of patients and their families. It is important to identify the impact and challenges of these diseases on patients’ lives and on their families, as well as to synthesize qualitative studies regarding their experiences.Inclusion criteria:We will consider studies including patients with MLD, ALD, or Krabbe disease and their family members. These experiences will include the challenges, dissatisfactions, and frustrations with symptoms and treatments; complications of hematopoietic stem cell transplantation; and the increased caregiver burden with disease progression. This is important since the impacts of disease progression are experienced in a variety of settings beyond the hospital, such as in the community and at home.Methods:The search strategy will follow JBI methodology and be conducted in 3 steps: an initial limited search, a comprehensive database search, and a reference search of the included articles. MEDLINE, CINAHL Plus, PsycINFO, and Scopus will be searched with no restriction on language or publication dates. The study selection, critical appraisal, data extraction, and data synthesis will be performed according to JBI guidelines for systematic reviews of qualitative research. Final syntheses will be assessed using the ConQual approach.Systematic review registration number:PROSPERO CRD42022318805.IntroductionLysosomal storage and peroxisomal disorders manifest with impaired lysosomal and peroxisomal functions, respectively, and are rare and intractable inborn errors of metabolism caused by different genetic lesions. These diseases, with overlapping phenotypes of leukodystrophy in the central nervous system, include metachromatic leukodystrophy (MLD), adrenoleukodystrophy (ALD), and Krabbe disease (globoid cell leukodystrophy). Specifically, MLD and Krabbe disease are classified as lysosomal storage diseases, whereas ALD is classified as a peroxisomal disorder. They cause cognitive and neurological decline due to the progression of leukodystrophy associated with demyelination and impair daily functions, which has a significant impact on the lives of patients and their families. 1–3