Neonatal pulmonary tuberculosis evolving to a destroyed lung.

Tuberculosis (TB) in the newborn is infrequent, difficult to diagnose and often devastating. Congenital TB is rare, with most neonates and young infants becoming infected after birth. The incidence of neonatal TB might increase in industrialised countries as a result of immigration from countries with higher TB incidence among women of childbearing age. We report two cases of post-natally acquired pulmonary TB in newborns who developed marked lung destruction, a complication of TB which has seldom been described in the first month of life. A high index of clinical suspicion is required when evaluating pregnant women at risk for TB and their ill children, as early identification and treatment can prevent the devastating consequences of TB.

[Microbiological study of the respiratory tract in children with cystic fibrosis]. / Estudio microbiológico del tracto respiratorio en niños afectados de fibrosis quística.

PURPOSE: Pulmonary infections is a main cause of morbimortality in patients suffering from cystic fibrosis. The objective of this study was to know the flora implicated in respiratory pathology of all mucoviscidotic children attending Hospital Sant Joan de Déu of Barcelona. METHODS: Quantitative cultures from respiratory samples (most of them: sputum) of 26 patients were performed from January 91 to June 93. There were 13 girls and 13 boys, aged 1 to 13 years (mean: 7 years). RESULTS: 282 microorganisms were isolated from 203 positive samples. Cultures of 88.4% of patients yielded in some moment Haemophilus influenzae, 82.6% of them Haemophilus parainfluenzae, 65.3% Pseudomonas aeruginosa, 50% Streptococcus pneumoniae, 38.4% Staphylococcus aureus. The most prevalent microorganism was P. aeruginosa (66%) followed by H. influenzae (29%) and S. aureus (26.6%). 59% of P. aeruginosa strains showed a mucoid phenotype. CONCLUSIONS: Haemophilus sp. causes short term infections that affect children of all ages, whereas infections due to P. aeruginosa persist in spite of correct antimicrobial therapy.

Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.

To study the severity of mutation G85E, located in the first membrane spanning domain of the CFTR gene, we studied the clinical features of 13 Spanish patients with cystic fibrosis (CF) carrying this mutation. G85E accounts for about 1% of Spanish CF alleles. One patient was homozygous G85E/G85E and the rest were compound heterozygotes for G85E and other mutations (delta F508 nine patients, delta I507 two patients, and 712-1G > T one patient). The characteristics of the pooled G85E/any mutation group were compared with those of 30 delta F508 homozygotes. Mean age at diagnosis and percentage of ideal height for age were higher in the G85E/any mutation group (4.2 (SD 4.7) v 2.4 (SD 2.3), p < 0.05, and 102.8 (SD 4.7) v 97.8 (SD 4.1), p < 0.01), both probably related to the greater prevalence of pancreatic sufficiency (70% v 0%, p < 0.01). The G85E homozygote was pancreatic sufficient. Sweat sodium levels were slightly higher, and salt loss related problems more frequent, in the G85E/any group. Two of the G85E patients died of respiratory failure aged 6 and 14 years. Striking discordance in the phenotype was observed in two pairs of sibs, one of them dizygotic twins, suggesting that factors, genetic and environmental, other than CFTR genotype are important in determining CF phenotype.

Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.

We report the clinical features of 21 unrelated cystic fibrosis (CF) patients from Portugal and Spain, who carry the mutation R1066C in the CFTR gene. The current age of the patients was higher in the R1066C/any mutation group (P < 0.01), as compared to the deltaF508/deltaF508 group. Poor values for lung radiological involvement (Chrispin-Norman) and general status (Shwachman-Kulcycki) were observed in the R1066C/any mutation group (P < 0.005 and P < 0.0004). A slightly, but not significantly worse lung function was found in the R1066C/any mutation group when compared with the deltaF508/deltaF508 patients. No significant differences were detected regarding the age at diagnosis, sweat Cl-values, or percentiles of height and weight between the two groups. Neither were significant differences observed regarding sex, meconium ileus (4.7% vs. 11.1%), dehydration (10.5% vs. 14.7%), or pancreatic insufficiency (PI) (100% vs. 97.8%). The proportion of patients with lung colonization by bacterial pathogens was slightly, but not significantly higher in the R1066C/any mutation group (70.0%), as compared with the deltaF508/deltaF508 group (57.5%). Other clinical complications were significantly more frequent in the R1066C/any mutation patients(P < 0.02) than in the deltaF508/deltaF508 group. The two homozygous R1066C/R1066C patients died at the ages of 3 months and 7 years. The data presented in this study clearly demonstrate that the R1066C mutation is responsible for a severe phenotype similar to that observed in homozygous deltaF508 patients. The poor clinical scores and complications of patients with the R1066C mutation are probably related to their slightly longer survival.