Objective To explore the potentially relevant copy number variations (CNVs) in congenital cystic lung diseases (CCLD). Methods Clinical data of 16 patients diagnosed with CCLD and CNVs results were retrospectively analyzed. Results Of 16 cases, 12 were males and 4 were females aged between 2 months and 12 years and 6 months. Of 16 cases, 10 cases were bronchogenic cyst, 4 cases were pulmonary sequestration, 2 cases were congenital cystic adenomatoid malformation, 1 case was congenital lobar emphysema and one case was not classified. These cases presented mainly with fever, cough, and sputum without specificity. Six CNVs with unknown clinical significance were found in two patients. Abnormal amplification of HDAC8 gene was found in 4 patients diagnosed with BC.Conclusions CCLD is less likely to be associated with the CNVs;HDAC8 gene may be related to bronchogenic cyst.%目的 探讨先天性肺囊性疾病(CCLD)相关基因的拷贝数变异.方法 回顾分析16例CCLD患儿的临床资料以及全基因组拷贝数变异检测结果.结果 16例患儿中男12例,女4例,年龄2个月~12岁6个月.10例患儿为支气管源性肺囊肿,其余分别为肺隔离症2例、先天性囊性腺瘤样畸形2例、先天性大叶性肺气肿1例、临床未分型1例.临床表现以发热、咳嗽、咳痰为主,无特异性.全基因组拷贝数变异检测,2例患儿有6个临床意义暂不明确的基因拷贝数变异;4例支气管源性肺囊肿患儿有HDAC8基因部分片段的异常扩增.结论 CCLD与基因拷贝数变异相关的可能性小;HDAC8基因可能为支气管源性肺囊肿相关基因.
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