Mitchell John, Berger Kenneth I, Borgo Andrea, Braunlin Elizabeth A, Burton Barbara K, Ghotme Kemel A, Kircher Susanne G, Molter David, Orchard Paul J, Palmer James, Pastores Gregory M, Rapoport David M, Wang Raymond Y, White Klane
Montreal Children's Hospital, Montreal, Quebec, Canada.
New York University School of Medicine, New York, NY, United States.
Eur J Intern Med. 2016 Oct;34:2-10. doi: 10.1016/j.ejim.2016.05.017. Epub 2016 Jun 11.
The mucopolysaccharidoses are a group of inherited metabolic diseases caused by deficiencies in enzymes involved in the sequential degradation of glycosaminoglycans (GAGs) leading to substrate accumulation in various tissues and organs. GAG accumulation can cause growth retardation and progressive damage to respiratory, cardiovascular, musculoskeletal, nervous, gastrointestinal, auditory, and visual systems. In the past, few people with severe phenotypic mucopolysaccharidosis (MPS) reached adulthood. However, better methods for diagnosis, multi-disciplinary care, and new therapies have extended lifespan, leading to an increasing number of patients surviving beyond childhood. The growing number of adult MPS patients poses significant challenges for clinicians who may not be familiar with the clinical manifestations of MPS. In addition, as new interventions have changed the natural history of these disorders, it is difficult to anticipate both the impact on life expectancy and other complications that may occur as these patients age. Because the MPS disorders are multi-organ diseases, their management requires a coordinated multi-disciplinary approach. Here we discuss the unique pattern of medical issues and multi-organ involvement in adult patients with MPS and identify the challenges that are associated with management of MPS. This review is based on information from an expert investigator meeting with MPS specialists held October 2-4, 2014 in Dublin, Ireland, as well as on current literature searches focusing on MPS and adults.
黏多糖贮积症是一组遗传性代谢疾病，由参与糖胺聚糖（GAGs）顺序降解的酶缺乏引起，导致底物在各种组织和器官中蓄积。GAG蓄积可导致生长发育迟缓，并对呼吸、心血管、肌肉骨骼、神经、胃肠、听觉和视觉系统造成进行性损害。过去，很少有严重表型黏多糖贮积症（MPS）患者能活到成年。然而，更好的诊断方法、多学科护理和新疗法延长了患者寿命，使得越来越多的患者存活至童年之后。成年MPS患者数量的增加给可能不熟悉MPS临床表现的临床医生带来了重大挑战。此外，由于新的干预措施改变了这些疾病的自然病程，很难预测对预期寿命的影响以及这些患者随着年龄增长可能出现的其他并发症。由于MPS疾病是多器官疾病，其管理需要协调的多学科方法。在此，我们讨论成年MPS患者独特的医学问题模式和多器官受累情况，并确定与MPS管理相关的挑战。本综述基于2014年10月2日至4日在爱尔兰都柏林与MPS专家举行的一次专家研讨会的信息，以及当前针对MPS和成年人的文献检索。
