Jie Zhao, Yan Zhu, Qun Jin, Wenyuan Duan and Li Yang*
Department of Pulmonary and Critical Care Medicine, Zhejiang Shuren University, ChinaFulltext PDF
Connective Tissue Disease-associate Interstitial Lung Disease (CTD-ILD) treatment depends on early accurate diagnosis. We hereby report a case of a 66-year-old man who has been diagnosed with CTD-ILD according to his High Resolution Computed Tomography (HRCT) and symptoms. In the meantime, we find axonemal dynein heavy chain gene 5 (DNAH5) variants in his Whole-Exome Sequence (WES). We wonder if DNAH5 is a biomarker of CTD-ILD.
Zhao J, Zhu Y, Jin Q, Duan W, Yang L. DNAH5, A Possible Genetic Marker in Diagnosing Connective Tissue Disease- Associate Interstitial Lung Disease (CTD-ILD). Ann Clin Case Rep. 2020; 5: 1808.