Department of Neurology, Klinikum der Ludwig-Maximilians-Universität München, Munich, Germany; German Center for Neurodegenerative Diseases e. V. (DZNE) Munich, Germany; Munich Cluster of Systems Neurology (SyNergy); Department of Psychiatry, Psychotherapy, and Psychosomatics, Faculty of Medicine, University of Augsburg, District Hospital Augsburg, Germany; Department of Gynecology and Obstetrics, Klinikum der Ludwig-Maximilians-Universität München, Munich, Germany; Hamburg Epilepsy Center, Protestant Hospital Alsterdorf, Department of Neurology and Epileptology, Hamburg, Germany; KBO Kinderzentrum München and Department of Sociopaediatrics at Munich Technical University (TMU), Munich, Germany; Division of Pediatric Endocrinology, University Children's Hospital, Saarland University Medical Center, Homburg, Germany.
Dtsch Arztebl Int. 2023 Jan 9;120(1-2):14-24. doi: 10.3238/arztebl.m2022.0371.
The life expectancy of individuals with trisomy 21 (Down syndrome, DS) has risen to more than 60 years over the past few decades. As a result, diseases arising in mid and later life have become an issue of major concern in the care of individuals with DS. This article discusses and summarizes, from a multidisciplinary perspective, the diseases commonly affecting this population.
This narrative review is based on publications identified by a selective literature search, extrapolation of the available evidence, and the authors' personal experience.
Robust epidemiological evidence indicates that many different diseases, which are dealt with by many different medical specialties, are more common in individuals with DS. The genetic background of some of these diseases is now understood down to the molecular level, e.g., primary hypothyroidism or Alzheimer's disease in DS. Recent gains in epidemiological and pathophysiological understanding contrast with a dearth of evidence on treatment for most of these disorders.
In view of the complexity of DS-associated morbidity, it would be desirable for DS-specific multidisciplinary care to be made available to patients with DS.
在过去几十年中,21 三体综合征(唐氏综合征,DS)患者的预期寿命已延长至 60 岁以上。因此,中老年人易患的疾病已成为 DS 患者护理的主要关注点。本文从多学科角度讨论并总结了常见的影响 DS 患者的疾病。
本综述基于选择性文献检索、现有证据的推断以及作者的个人经验确定的出版物。
强有力的流行病学证据表明,许多不同的疾病,涉及许多不同的医学专业,在 DS 患者中更为常见。这些疾病中的一些的遗传背景现在已经在分子水平上得到了解,例如,DS 中的原发性甲状腺功能减退症或阿尔茨海默病。最近在流行病学和病理生理学方面的认识进展与大多数这些疾病的治疗证据缺乏形成鲜明对比。
鉴于 DS 相关发病率的复杂性,最好为 DS 患者提供特定的多学科护理。