Incidence of Spinal Muscular Atrophy in Poland - More Frequent than Predicted?
Incidence of Spinal Muscular Atrophy in Poland - More Frequent than Predicted?
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DOI：
10.1159/000275492
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发表时间：
2010-01-01
影响因子：
5.7
通讯作者：
Hausmanowa-Petrusewicz, Irena
中科院分区：
文献类型：
--
作者：
Jedrzejowska, Maria;Milewski, Michal;Hausmanowa-Petrusewicz, Irena
背景：分子方法的应用加强和扩大了对脊髓性肌萎缩症(SMA)及其携带者的诊断。它允许进行可靠的流行病学研究，这些研究对人口学和遗传咨询很重要。方法：根据SMN1基因缺失携带者状态在普通人群中的流行情况以及对1998-2005年诊断的所有SMA病例的分析，本研究试图评估SMA在波兰的发病率。结果：SMN1基因缺失携带者状态的患病率估计为每35人中有1人(17/600)，SMA的发病率相当于每4900人中有1人。相比之下，根据荟萃分析的结果，华沙的SMA发病率估计为每7127人中有1例，整个波兰为每9320人中有1例，这表明SMA的一些病例仍未得到诊断。诊断以SMA1为主，占全部病例的69%。结论：SMN1缺失携带者状态在普通人群中的高患病率表明，SMA可能是一种比确诊病例流行病学数据预测的更常见的疾病。版权所有(C)2010 S.Karger AG，巴塞尔
Background: The application of molecular methods has enhanced and enlarged the diagnostics of spinal muscular atrophy (SMA) and its carriership. It allows for reliable epidemiological studies which are of importance to demography and genetic counseling. Methods: This study sought to evaluate the incidence of SMA in Poland, on the basis of the prevalence of the SMN1 gene deletion carrier state in the general population, as well as an analysis of all cases of SMA diagnosed in the years 1998-2005. Results: The prevalence of the SMN1 gene deletion carrier state was estimated at 1 per 35 persons (17/600), yielding an incidence of SMA equal to 1 per 4,900. By contrast, the incidence of SMA based on the results of the meta-analysis was an estimated 1 per 7,127 in Warsaw and 1 per 9,320 persons across Poland, suggesting that some cases of SMA remain undiagnosed. SMA1 predominated among the diagnoses, accounting for 69% of all cases. Conclusion: A high prevalence of the SMN1 deletion carrier state in the general population indicates that SMA could be a more frequent disease than is predicted by the epidemiological data regarding diagnosed cases. Copyright (C) 2010 S. Karger AG, Basel