Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: evidence of founder effect among multiplex families in Finland
Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: evidence of founder effect among multiplex families in Finland
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DOI：
10.1136/thorax.57.4.338
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发表时间：
2002-04-01
期刊：
影响因子：
10
通讯作者：
Tukiainen, P
中科院分区：
文献类型：
--
作者：
Hodgson, U;Laitinen, T;Tukiainen, P
背景资料：散发性和家族性特发性肺纤维化（IPF）的情况下，在芬兰的患病率进行了评估，根据修订后的建议，美国胸科Society.Methods：所有芬兰肺诊所（n=29）被列入初步筛选。使用医院数据库识别诊断为“特发性纤维性肺泡炎”（ICD-10分类中的J84.1）的患者。根据对不同中心病例记录随机样本的评价外推IPF患者总数。一个以上的潜在受影响的成员的家庭进行了调查问卷研究和诊断进行了验证，从医疗records.Results：使用这种方法，在芬兰的IPF的全国患病率估计为16-18/100 000。在90%的患者中，肺部受累通过高分辨率计算机断层扫描（HRCT）进行评估，31%的患者可获得手术活检标本，进一步确认诊断。确定了17个有2-5名受影响家庭成员的多重家族，得出芬兰家族性IPF的患病率为5.9/百万。多重和零星的家庭聚集在芬兰东部。这种聚类反映了芬兰在16世纪世纪的人口统计学历史，并表明在过去的20-25代中，多重家族可能有一个共同的祖先。结论：根据修订后的国际指南，家族性形式解释了3.3-3.7%的芬兰IPF诊断病例。多重家族的地理聚集性表明家族性IPF患者近期存在创始者效应。
Background: The prevalence of sporadic and familial idiopathic pulmonary fibrosis (IPF) cases in Finland was evaluated according to the revised recommendations of the American Thoracic Society.Methods: All Finnish pulmonary clinics (n=29) were included in the primary screening. Hospital data bases were used to identify patients with the diagnosis "alveolitis fibroticans idiopathica" (J84.1 in ICD-10 classification). The total number of patients with IPF was extrapolated based on the evaluation of random samples of case records in different centres. Families with more than one potentially affected member were identified from a questionnaire study and the diagnosis was verified from the medical records.Results: Using this approach, the nationwide prevalence of IPF in Finland was estimated to be 16-18/100 000. In 90% of the patients lung involvement was assessed by high resolution computed tomographic (HRCT) scanning and in 31% a surgical biopsy specimen was available, further confirming the diagnosis. Seventeen multiplex families with 2-5 affected family members were identified, giving a prevalence of 5.9/million for familial IPF in Finland. Both multiplex and sporadic families were clustered in Eastern Finland. This clustering reflects the demographic history of Finland in the 16th century and suggests that multiplex families may share a common ancestor in the last 20-25 generations.Conclusion: The familial form explained 3.3-3.7% of all Finnish cases of IPF diagnosed according to the revised international guidelines. Geographical clustering of multiplex families suggests a recent founder effect in patients with familial IPF.