The Champ Foundation, 4711 Hope Valley Road 4F PMB 1171, Durham, NC 27707, United States of America.
University of Cincinnati College of Medicine, 3230 Eden Ave, Cincinnati, OH 45267, United States of America.
Mol Genet Metab. 2021 Dec;134(4):301-308. doi: 10.1016/j.ymgme.2021.11.004. Epub 2021 Nov 14.
There is a limited understanding of system-level clinical outcomes and interventions associated with single large-scale mitochondrial DNA deletion syndromes (SLSMDS). Additionally, no research exists that describes patient reported outcomes (PROs) of children with SLSMDS. A global and observational registry was established to understand the multi-systemic course of SLSMDS and track clinical outcomes. The development and design of the registry is described. Demographic characteristics, history and diagnoses, and system level prevalence of problems and interventions are reported for 42 children. System level problems and interventions include information on the following body systems: audiology, cardiac, endocrine, gastrointestinal (including pancreatic and hepatobiliary system), hematological, metabolic, neurological (including autonomic, mobility, & learning), ophthalmic, psychiatric, renal, and respiratory. Results emphasize the need of patient registries and suggest that the diagnostic odyssey and burden of disease for children with SLSMDS is significant. System-level findings may help families and clinical providers with diagnosis, prognostication, and treatment. A multidisciplinary team of clinical experts with a central coordinating specialist for children with SLSMDS is recommended.
对于与单个大片段线粒体 DNA 缺失综合征（SLSMDS）相关的系统水平临床结果和干预措施，人们的了解有限。此外，目前尚无研究描述 SLSMDS 患儿的患者报告结局（PRO）。建立了一个全球性和观察性的登记处，以了解 SLSMDS 的多系统病程并跟踪临床结果。本文介绍了登记处的开发和设计。报告了 42 名儿童的人口统计学特征、病史和诊断以及系统水平问题和干预措施的流行情况。系统水平的问题和干预措施包括以下身体系统的信息：听力学、心脏、内分泌、胃肠道（包括胰腺和肝胆系统）、血液学、代谢、神经学（包括自主、运动和学习）、眼科、精神科、肾脏和呼吸。结果强调了患者登记处的必要性，并表明 SLSMDS 患儿的诊断探索和疾病负担是巨大的。系统水平的发现可以帮助患儿家庭和临床医生进行诊断、预后和治疗。建议为 SLSMDS 患儿设立一个由临床专家组成的多学科团队，并配备一名中央协调专家。
