Department of Pathology, Department of Medicine, Division of Respirology, Royal University Hospital, University of Saskatchewan, Saskatoon, Saskatchewan.
Can Respir J. 2010 Nov-Dec;17(6):269-74. doi: 10.1155/2010/591523.
A large kindred of familial pulmonary fibrosis is reported. Six members from the first two generations of this particular kindred were described more than 40 years previously; six more individuals from the third and fourth generations have also been evaluated. The proband, now 23 years of age, has mild disease; the other 11 documented affected family members all died from their disease at an average age of 37 years (range 25 to 50 years). The pathology was that of usual interstitial pneumonia, as is typical in idiopathic pulmonary fibrosis. However, the initial radiographic pattern in many of these individuals was upper lobe and nodular and, along with the young age, was atypical for idiopathic pulmonary fibrosis. Several genetic abnormalities have been associated with familial pulmonary fibrosis. The present study examined the genes coding for surfactant protein-C, ATPbinding cassette protein A3 and telomerase, and found no abnormalities.
一个大家族的家族性肺纤维化被报道。这个特殊家族的前两代的 6 名成员在 40 多年前就已经被描述过；第三代和第四代的另外 6 个人也已经被评估过。先证者，现年 23 岁，病情较轻；其余 11 名有记录的受影响的家族成员都在平均 37 岁（25 至 50 岁）时死于该病。病理学是特发性肺纤维化中常见的间质性肺炎。然而，在许多这些个体中，初始的放射影像学模式是上叶和结节性的，并且与年轻年龄相结合，是非特发性肺纤维化的典型模式。已经有几种遗传异常与家族性肺纤维化相关。本研究检查了编码表面活性蛋白-C、ATP 结合盒蛋白 A3 和端粒酶的基因，未发现异常。
