Witt Stefanie, Kristensen Kaja, Hohenfellner Katharina, Quitmann Julia
Center for Psychosocial Medicine, Department of Medical Psychology University Medical Center Hamburg-Eppendorf Hamburg Germany.
Pediatric Nephrology RoMed Kliniken Rosenheim Germany.
JIMD Rep. 2022 Dec 16;64(2):199-211. doi: 10.1002/jmd2.12352. eCollection 2023 Mar.
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder. With the availability of treatment and renal replacement therapy, nephropathic cystinosis has evolved from an early fatal disease to a chronic, progressive disorder with potentially high impairment. We aim to review the literature on the health-related quality of life and identify appropriate patient-reported outcome measurements to assess the health-related quality of life of patients with cystinosis. For this review, we conducted a literature search in PubMed and Web of Science in September 2021. Inclusion and exclusion criteria for the selection of articles were defined a priori. We identified 668 unique articles through the search and screened them based on title and abstract. The full texts of 27 articles were assessed. Finally, we included five articles (published between 2009 and 2020) describing the health-related quality of life in patients with cystinosis. All studies, apart from one, were conducted in the United States, and no condition-specific measurement was used. Patients with cystinosis reported a lower health-related quality of life (for certain dimensions) than healthy subjects. Few published studies address the health-related quality of life of patients with cystinosis. Such data must be collected standardized and follow the FAIR (Findable, Accessible, Interoperable, and Reusable) principles. To gain a comprehensive understanding of the impact of this disorder on health-related quality of life, it is necessary to use generic and condition-specific instruments to measure this, preferably in large samples from longitudinal studies. A cystinosis-specific instrument for measuring health-related quality of life has yet to be developed.
肾病型胱氨酸病是一种罕见的常染色体隐性溶酶体贮积症。随着治疗方法和肾脏替代疗法的出现，肾病型胱氨酸病已从一种早期致命疾病演变为一种慢性、进行性疾病，可能造成严重损害。我们旨在回顾关于健康相关生活质量的文献，并确定合适的患者报告结局指标，以评估胱氨酸病患者的健康相关生活质量。为此综述，我们于2021年9月在PubMed和科学网进行了文献检索。事先确定了文章选择的纳入和排除标准。通过检索我们识别出668篇独特文章，并根据标题和摘要进行筛选。对27篇文章的全文进行了评估。最后，我们纳入了五篇（发表于2009年至2020年之间）描述胱氨酸病患者健康相关生活质量的文章。除一项研究外，所有研究均在美国进行，且未使用特定疾病的测量方法。胱氨酸病患者报告的（某些维度的）健康相关生活质量低于健康受试者。很少有已发表的研究涉及胱氨酸病患者的健康相关生活质量。此类数据必须标准化收集，并遵循FAIR（可查找、可访问、可互操作和可重用）原则。为了全面了解这种疾病对健康相关生活质量的影响，有必要使用通用和特定疾病的工具来进行测量，最好是在纵向研究的大样本中进行。目前尚未开发出用于测量胱氨酸病患者健康相关生活质量的特定疾病工具。
