Clinical and pathologic features of familial interstitial pneumonia
Clinical and pathologic features of familial interstitial pneumonia
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DOI：
10.1164/rccm.200408-1104oc
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发表时间：
2005-11-01
影响因子：
24.7
通讯作者：
Schwartz, DA
中科院分区：
文献类型：
--
作者：
Steele, MP;Speer, MC;Schwartz, DA
目的：我们对家族成员中有2个或2个以上特发性间质性肺炎(家族性间质性肺炎，FIP)的家系进行了评估，确定了111个FIP家系，其中309人为家族性间质性肺炎，360人为未患病者。方法：根据28例(9.1%)的病历回顾，临床病史、一氧化碳弥散量(D-LCO)和胸部X线片，确定是否存在FIP。结果：高龄(68.3vs.53.1；p<；0.0001)，男性(55.7vs.37.2%；p<；0.0001)，吸烟(67.3vs.34.1；p<；0.0001)，吸烟(67.3vs.34.1%；p<；0.0001)。0.0001)与FIP的发展有关。在控制了年龄和性别后，吸烟仍然与FIP的发生密切相关(优势比(ADJ)，3.6；95%可信区间，1.3-9.8)。疾病聚集的证据在兄弟姐妹中非常显著(p<；0.001)，20个家系表现出垂直传播，与常染色体显性遗传一致。45%的家系表现出表型的异质性，一些家系表现出几种亚型的特发性间质性肺炎发生在同一个家庭中。结论：这些发现提示RIP可能是由特定的环境暴露和一个或多个基因之间的相互作用引起的，该基因易导致几种亚型的特发性间质性肺炎的发生。
Rationale: Several lines of evidence suggest that genetic factors and environmental exposures play a role in the development of pulmonary fibrosis.Objectives: We evaluated families with 2 or more cases of idiopathic interstitial pneumonia among first-degree family members (familial interstitial pneumonia, or FIP), and identified 111 families with FIP having 309 affected and 360 unaffected individuals.Methods: The presence of probable or definite FIP was based on medical record review in 28 cases (9.1%); clinical history, diffusing capacity of carbon monoxide (D-Lco), and chest X-ray in 16 cases (5.2%); clinical history, D-Lco, and high-resolution computed tomography chest scan in 191 cases (61.8%); clinical history and surgical lung biopsy in 56 cases (18.1%); and clinical history and autopsy in 18 cases (5.8%).Results: Older age (68.3 vs. 53.1; p < 0.0001), male sex (55.7 vs. 37.2%; p < 0.0001), and having ever smoked cigarettes (67.3 vs. 34.1%; p < 0.0001) were associated with the development of FIP. After controlling for age and sex, having ever smoked cigarettes remained strongly associated with the development of FIP (odds ratio(adj), 3.6; 95% confidence interval, 1.3-9.8). Evidence of aggregation of disease was highly significant (p < 0.001) among sibling pairs, and 20 pedigrees demonstrated vertical transmission, consistent with autosomal dominant inheritance. Forty-five percent of pedigrees demonstrated phenotypic heterogeneity, with some pedigrees demonstrating several subtypes of idiopathic interstitial pneumonia occurring within the same families.Conclusions: These findings suggest that RIP may be caused by an interaction between a specific environmental exposure and a gene (or genes) that predisposes to the development of several subtypes of idiopathic interstitial pneumonia.