title: Vanishing lung syndrome in one family: five cases with a 20-year follow-up.
abstract: Vanishing lung syndrome, also known as idiopathic giant bullous emphysema, is a rare disease characterized by giant emphysematous bullae. The disease is diagnosed by radiological findings of giant bullae in one, or both, of the upper lobes of the lung, occupying at least one-third of the hemithorax. There have been several reports of vanishing lung syndrome, however it remains to be determined whether genetic inheritance is associated with the disease. In the present study, five patients within one family, with vanishing lung syndrome, were reported during a follow-up period of ~ 20 years. All of the patients were diagnosed by radiological findings, which showed diffuse bullae in the lungs, which were of varying size and asymmetrical distribution, and the occurrence of pneumothorax or emphysema. The Medical Ethics Committee of the People's Hospital of Zhangye Municipality (Zhangye, China) approved this study, and all subjects gave their informed consent During the follow-up period of 20 years, bullae in these patients were shown to progressively increase, and no other pulmonary diseases, including lung cancer, tuberculosis, pneumoconiosis and chronic bronchitis were observed. Autosomal dominant inheritance was observed in five cases, and autosomal recessive inheritance was observed in one case. The present study suggests that vanishing lung syndrome may be associated with autosomal dominant and recessive genetic inheritance.
authors.affiliation: Department of Radiology, The People's Hospital of Zhangye Municipality, Zhangye, Gansu 734000, P.R. China.
authors.forename: Xichun
authors.initials: X
authors.lastname: Gao
authors.affiliation: Department of Medicine, The People's Hospital of Zhangye Municipality, Zhangye, Gansu 734000, P.R. China.
authors.forename: Haiying
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Obstetrics and Gynecology, The People's Hospital of Zhangye Municipality, Zhangye, Gansu 734000, P.R. China.
authors.forename: Kaihong
authors.initials: K
authors.lastname: Gou
authors.affiliation: Department of Radiology, The People's Hospital of Zhangye Municipality, Zhangye, Gansu 734000, P.R. China.
authors.forename: Baosheng
authors.initials: B
authors.lastname: Huang
authors.affiliation: Department of Radiology, The People's Hospital of Zhangye Municipality, Zhangye, Gansu 734000, P.R. China.
authors.forename: Dongzhou
authors.initials: D
authors.lastname: Xia
authors.affiliation: Department of Radiology, The People's Hospital of Zhangye Municipality, Zhangye, Gansu 734000, P.R. China.
authors.forename: Xiuli
authors.initials: X
authors.lastname: Wu
authors.affiliation: Department of Radiology, The People's Hospital of Zhangye Municipality, Zhangye, Gansu 734000, P.R. China.
authors.forename: Ming
authors.initials: M
authors.lastname: Wei
authors.affiliation: Department of Radiology, The People's Hospital of Zhangye Municipality, Zhangye, Gansu 734000, P.R. China.
authors.forename: Shengxi
authors.initials: S
authors.lastname: Zheng
authors.affiliation: Department of Radiology, The People's Hospital of Zhangye Municipality, Zhangye, Gansu 734000, P.R. China.
authors.forename: Shan
authors.initials: S
authors.lastname: Ma
authors.affiliation: Department of Radiology, The People's Hospital of Zhangye Municipality, Zhangye, Gansu 734000, P.R. China.
authors.forename: Juanxiang
authors.initials: J
authors.lastname: He
mesh_terms: D000328:Adult; D017668:Age of Onset; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011656:Pulmonary Emphysema / Q000175:diagnosis* / Q000503:physiopathology; D013902:Radiography, Thoracic; D013577:Syndrome; D014057:Tomography, X-Ray Computed