Christiane De Boeck

Congenital Parenchymatous Malformations of the Lung

Abstract. Congenital lung malformations, primary and secondary, contribute to an important portion of pediatric thoracic surgery. One purpose of this report is to outline the close relation in terms of embryology and clinical presentation of congenital parenchymatous pulmonary malformations. In a retrospective study we also aim to evaluate our experience with the diagnosis and surgical management of congenital parenchymatous bronchopulmonary malformations and to compare our data with the literature. From January 1979 to December 1996 a series of 48 patients, 30 males (62.5%) and 18 females (37.5%), were operated on for congenital bronchopulmonary malformations. Pulmonary sequestration, bronchogenic cysts, congenital lobar emphysema, and congenital cystic adenomatoid malformation were seen in 16, 13, 5, and 14 patients, respectively. The first clinical symptoms occurred at a mean age of 8.8 years (1 day to 62 years), and the mean age at the time of surgical intervention was 9.3 years (1 day to 62 years). The maximum time between first symptoms and surgical treatment was 27 years. A lobectomy was performed in 22 cases; in the other patients more lung-preserving surgery such as enucleation or sequestrectomy was performed. Only one postoperative death occurred following lobectomy for pulmonary sequestration, and it was due to pulmonary hypoplasia and pulmonary hypertension. Eleven other patients presented with postsurgical complications: pneumothorax (n= 5), pleural effusion (n= 3), prolonged air leak (n= 2), portal vein thrombosis (n= 1), and hemorrhage requiring reintervention (n= 1). We conclude that any thoracic cystic lesion expanding on chest radiography should be an indication for surgical resection, even if asymptomatic, because of the risk of pulmonary compression, infection, or malignant degeneration. In the few cases of a fetal intrathoracic mass, prenatal diagnosis and intrauterine intervention may be indicated, and these indications are also discussed.

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene

We have previously shown that about 85% of the mutations in 194 Belgian cystic fibrosis alleles could be detected by a reverse dot-blot assay. In the present study, 50 Belgian chromosomes were analyzed for mutations in the cystic fibrosis transmembrane conductance regulator gene by means of direct solid phase automatic sequencing of PCR products of individual exons. Twenty-six disease mutations and 14 polymorphisms were found. Twelve of these mutations and 3 polymorphisms were not described before. With the exception of one mutant allele carrying two mutations, these mutations were the only mutations found in the complete coding region and their exon/intron boundaries. The total sensitivity of mutant CF alleles that could be identified was 98.5%. Given the heterogeneity of these mutations, most of them very rare, CFTR mutation screening still remains rather complex in our population, and population screening, whether desirable or not, does not appear to be technically feasible with the methods currently available.

IgE Sensitization to Aspergillus fumigatus Is Not a Bystander Phenomenon in Cystic Fibrosis Lung Disease

cantly impaired lung function parameters in Af-sensitized compared with Af-nonsensitized patients, with an average diff erence in FEV 1 of 19 4% predicted. In a multivariate analysis with age, sex, BMI, Pseudomonas aeruginosa colonization, pancreatic insuffi ciency, and gastroesophageal refl ux disease as covariates, a signifi cantly lower FEV 1 and vital capacity ( P , .001) was associated with Af sensitization, as well as an increased airway resistance ( P , .05) and hyperinfl ation (higher residual volume, P , .001) (e-Table 1). Interestingly, no signifi cant diff erences in lung function parameters were found between patients with serologic criteria for allergic bronchopulmonary aspergillosis (ABPA) (n 5 17) and patients with sensitization to Af without ABPA. Similar to the data presented by Baxter et al 1 and others, 3 we observed, in a 3-year period, more exacer