个体中 ABCA3 和 SFTPC 的遗传变异与早期间质性肺病的鉴定。
Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC.
机构信息
Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University School of Medicine, T-1218 MCN, Nashville, TN 37232-2650, USA.
出版信息
Chest. 2010 Apr;137(4):969-73. doi: 10.1378/chest.09-0790.
A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation. Genomic DNA from the individual and two daughters (aged 39 and 43 years) was sequenced for the I73T mutation and variations in ATP-binding cassette A3 (ABCA3). All three had the I73T SFTPC mutation. The father and one daughter (aged 39 years) also had a transversion encoding an Asp123Asn (D123N) substitution in ABCA3. The daughters were evaluated by pulmonary function testing and high-resolution CT (HRCT). Neither daughter had evidence of disease, except for focal subpleural septal thickening on HRCT scan in one daughter (aged 39 years). This daughter underwent bronchoscopy with transbronchial biopsies revealing interstitial fibrotic remodeling. These findings demonstrate that subclinical fibrotic changes may be present in family members of patients with SFTPC mutation-associated interstitial lung disease and suggest that ABCA3 variants could affect disease pathogenesis.
一名患有普通间质性肺炎的男性（发病年龄 58 岁）先前被发现存在肺表面活性蛋白 C（SFTPC）基因 Ile73Thr（I73T）突变。对该个体及其两位女儿（年龄分别为 39 岁和 43 岁）的基因组 DNA 进行了 I73T 突变和三磷酸腺苷结合盒 A3（ABCA3）基因变异的测序。这三个人都携带 I73T SFTPC 突变。父亲和一位 39 岁的女儿（aged 39 years）也携带 ABCA3 编码 Asp123Asn（D123N）取代的颠换突变。对两位女儿进行了肺功能测试和高分辨率 CT（HRCT）检查。除了一位 39 岁的女儿（aged 39 years）的 HRCT 扫描显示局灶性胸膜下间隔增厚外，两位女儿均无疾病证据。这位 39 岁的女儿进行了支气管镜检查和经支气管活检，显示间质纤维化重塑。这些发现表明，SFTPC 突变相关的间质性肺疾病患者的家族成员可能存在亚临床纤维化改变，并提示 ABCA3 变体可能影响疾病发病机制。
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