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.