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了解AATD患者的数量是解决AATD问题的第一步http://ow.ly/JNPJ305OopX
21世纪呼吸医学面临着强大的挑战。实际上,大多数呼吸系统医学研究都变得相互联系,翻译和跨国,所有嵌入在所谓的“行星健康”中[1]。然而,从经典,描述性流行病学中重新估算和趋势,包括一些特定条件的患者,并在未来预期有多少次,仍然是琐事。持续更新来自世界卫生组织的全球疾病倡议的重申,即使具有广泛的欠诊断,呼吸系统疾病的呼吸系统疾病患有较高的疾病和死亡率2]。也许没有更好的呼吸状况的例子,需要进一步的流行病学和人口令人耳目一而令人难以置疑1- 钛合金缺乏(AATD)。严重的AATD被认为是一种罕见的疾病,其被定义为2000年的任何疾病,影响少于1个个体[3.]。欧洲一般人群中AATD的普遍性约为2000 - 5000。
D.espite the recognised potential for life-threatening disease at a young age, this condition continues to be largely underdiagnosed; on a worldwide scale it is estimated that only 0.35% of expected AATD cases are detected [3.]。Moreover, the majority of individuals continue to experience a substantial delay of several years before diagnosis [4.]。T.he number of cases of AATD and chronic obstructive pulmonary disease (COPD) worldwide has been the subject of intense debate in respiratory medicine. Based on an analysis of published genetic epidemiological surveys,德S.犯错误等。[5.] concluded back in 2002 that “… it has been estimated that 3.4 million individuals in the world have an AATD genotype that leads to a deficiency of this protein”. From a distance, this estimate appears to be quite accurate, nowadays as high as 3.3 million, by applying the estimate that AATD accounts for 1% of all 332 million COPD cases worldwide from the Global Burden of Disease study [2]。
More recently, genetic epidemiological studies on the prevalence of AATD in 97 countries [6.] identified Latvia as having the highest prevalence of deficiency alleles: PI*S 31.3 per 1000 population and PI*Z 45.1 per 1000 population. Although considerable variation was apparent between geographic regions and between countries in the same continent, the overall result was the same: AATD can be identified in any region and in any country, if it is searched for actively. However, data on the current prevalence and estimated numbers of AATD patients are missing in many countries, and we need to identify these patients and make sure that they do not smoke, or help them with smoking cessation first, before considering other management decisions.
在这个问题中欧洲呼吸杂志, Greulich等。[7.] explore the prevalence of AATD in Germany and investigate associated comorbidities using a healthcare database. Despite knowledge of the disease for over 50 years, it is surprising that there is dearth of such information on AATD and hence the study is very welcome in this regard. Greulich等。[7.]估计re are 19 162 AATD cases in Germany. As expected, AATD prevalence increased with age and was higher in men than women, and compared with age- and sex-matched cohorts of patients with COPD, emphysema or asthma, AATD patients had more comorbidities, and a higher individual and societal burden. Furthermore, compared with usual COPD, AATD individuals required significantly longer hospital admission for exacerbations, and had more frequent exacerbations and consultations. This may be explained by the excess pulmonary inflammation described in AATD [8.]。AATD中的肺部疾病被认为发生在年轻时,但在表型和进展方面可以是可变的。尽管有这些复杂性,但许多AATD患者与通常的COPD相同的方式管理。此外,欧洲内部的各国和AATD专家的各国都有不公平的进入,包括可变访问最佳管理方法,例如用于可能受益的人的增强治疗。该研究增加了对肺部观点的常规COPD应该不同地管理AATD的情况。已经认识到,AATD评估还应包括肝脏,移植,偶尔皮肤病学,遗传和儿科建议,但这些发现还表明有可能需要考虑其他器官系统。此外,与所有良好的流行病学研究一样,它刺激了我们考虑各种问题。我们可以更好地了解增强治疗的影响是否使用额外的工具?做了吗?体外anti-inflammatory and immunomodulatory role of antitrypsin have relevance to the association with other organ disease [9.]? Are we serving AATD patients in the optimal way, both in terms of healthcare systems and personalising their consultation, in concept perhaps more akin to cystic fibrosis than COPD? More work is needed.
R.eassuringly, the well-known association of liver disease with AATD was confirmed in this study by Greulich等。[7.], giving support to the methodology utilised. The novelty of this “real-world” AATD analysis, recently also applied to obstructive sleep apnoea [10那11], can provide us with hints of the population distribution and trends of respiratory conditions as seen in primary care and chest clinics. Despite the continuing controversy over population spirometry for COPD screening [12], recent case-finding strategies in COPD proved successful [13.]。We have to keep emphasising the international consensus recommendation that all COPD patients should be tested for AATD [14.那15.] and reinforce registries for rare diseases, such as the European AlphaOne registry and others to be created [16.]。
T.he data highlight the importance of viewing AATD differently from usual COPD, both in terms of severity and potential comorbidities, and hence support patient's need for appropriately designed pathways of care. These findings should stimulate further case-finding efforts to unravel AATD in Germany, and be replicated and expanded in other countries in order to deepen our understanding of this complex, poorly understood and often neglected disease. Knowing the size and scope of the problem is a first step in the right direction to tackle the AATD “planetary” problem. Please, one at a time, keep counting (图1) in AATD!
D.isclosures
Footnotes
支持声明:R. Mahadeva由剑桥NIHR生物医学研究中心提供支持。
利益冲突:可以在本文中找到披露www.qdcxjkg.com
- R.eceivedOctober 4, 2016.
- 公认2016年10月5日。
- 版权所有©2017