Genome-wide copy number variations in congenital cystic lung disease / 临床儿科杂志

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.

Congenital cystic lung lesions in 52 children / 中华实用儿科临床杂志

Objective To investigate the diagnosis,operation and outcomes of congenital cystic lung lesions in children.Methods Fifty-two children with congenital cystic lung lesions were collected.The clinical data s were analyzed including manifestations,lesion characteristics,imaging,histopathology,diagnosis,surgical treatment methods and short-term pulmonary functions.Results There were 33 male and 19 female,aged from 1 day to 159 months,their median age was 3.67 months.Five cases were neonates.There were 42 cases of bronchogenic cyst,6 cases of pulmonary sequestration,3 cases of congenital lobar emphysema and 1 case of congenital cystic adenomatoid malformation.The cases commonly manifested by lung infections.Of 52 cases,61.5％ were diagnosed after the first onset of lung infection,21.1％ for repeated lung infections and 17.3％ with no symptom.Right lower lung was the most common lesion site and the cases accounted about for 36.5％.Multiple gas cysts were the most common imaging findings accounting about for 42.3％.The pathologic examination of all cases showed bronchogenic cysts.The missed diagnosis rate was 17.3％.The misdiagnosis rate was 24.9％,which of bronchogenic cyst cases was 19.2％.All cases received the lobectomy without death.Conclusions The preoperative diagnosis of congenital cystic lung lesions is mostly based on imaging findings.Clinical manifestations are useful for identifying early the lesions.The preoperative diagnosis may be easily missed or incorrectly done.Pathological findings contribute to make a definite diagnosis.The surgery effect is satisfactory and the outcome is good.

Congenital cystic lung lesions / 临床儿科杂志

Congenital cystic lung lesions are a group of congenital lung diseases with low incidence. These include congenital cystic adenomatoid malformation,bronchogenic cyst,congenital lobar emphysema and pulmonary sequestration. These malformations occur during the period of lung development stimulated by various factors. Manifestations of the diseases are very similar,but the pathogenesis and pathology are very different. Congenital cystic adenomatoid malformations are thought to be the results of the cessation of bronchiolar maturation with overgrowth of mesenchymal elements and without development of alveoli. There are 5 pathological types of congenital cystic adenomatoid malformations. Bronchogenic cysts are the results of abnormal budding from a segment of the tracheobronchial tree during embryo development,and the buds with no communication with normal tracheobronchial tree. Congenital lobar emphysema is a term reserved for hyperinflation of alveoli from idiopathic reasons or extrinsic compression,as well as pathological changes of the bronchial wall. Pulmonary sequestrations account for parts of nonfunctioning lung tissue that mostly do not communicate with normal bronchoalveolar tree and vascularized by a systemic artery,two types(intralobar and extralobar sequestration)are described.