Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?

While all patients with cystic fibrosis (CF) have mutations in both CFTR alleles, often only one CFTR change is detected in patients with other lung disorders. The aim of this study was to investigate whether heterozygosity for CFTR mutations could be a determinant risk factor in the development of bronchiectasis in adult patients. We have performed the CFTR gene analysis in a cohort of 55 bronchiectasis adult patients with unknown etiology. The 5T variant (TG)m and the M470V polymorphisms were also analyzed. A general population in which the same molecular analysis was previously performed was used as the control group. The mutational spectrum of patients was also compared with that found in our CF population. CFTR mutations/variants were found in 20 patients (36%), 14 with only one mutant gene (25%). All six patients colonized by Staphylococcus aureus presented with at least one CFTR change (p = 0.001). No statistical significance was observed between patients with and without mutations for other clinical features. The 5T variant was found in four patients. Additionally, 90% of patients with mutations had the more functional M470 allele (p < 0.001). These results suggest the involvement of the CFTR gene in bronchiectasis of unknown etiology in adult patients.

Expresión del receptor de baja afinidad para la igE (Fce RII/CD23) en los eosinófilos de pacientes asmáticos / Expression of the low-affinity IgE receptor (Fce RII/CD23) in the eosinophils of asthmatic patients

Fundamento: Los eosinófilos, células que participan en los mecanismos inflamatorios que suceden en el asma, expresan en su superficie receptores para la IgE. El receptor de baja afinidad para la IgE (Fce RII/CD23) se ha implicado en la regulación de la síntesis de IgE, por lo que es posible que los pacientes asmáticos alérgicos presenten una mayor expresión de CD23 en eosinófilos. Métodos: En 10 pacientes asmáticos (cinco sensibilizados a Dermatophagoides pteronyssinus (PAA) y cinco no alérgicos (PANA), se estudió mediante citometría de flujo la expresión de CD23 en los eosinófilos de sangre periférica y en cultivos de eosinófilos incubados, respectivamente, con GM-CSF, IL-4, IFN-g o medio condicionado (MC) obtenido de cultivos de células mononucleadas estimuladas con fitohemaglutinina. En dicho medio se cuantificaron las concentraciones de IL-3, IL-4, GM-CSF y CD23 soluble (CD23s). Resultados: La expresión de CD23 en los eosinófilos se detectó en el 60 por ciento de los PAA y en el 40 por ciento de los PANA. En ambos grupos, los cultivos de eosinófilos incubados con GM-CSF, IL-4 o IFN-g mostraron un menor porcentaje de eosinófilos que expresaban CD23 ( por cientoEosCD23+) que los cultivos sin estas citocinas, mientras que la adición de MC aumentaba dicho porcentaje. En los cultivos con MC de los PAA se observó una correlación entre el por cientoEosCD23+ y las concentraciones de CD23s del MC. Conclusiones: La expresión de CD23 en eosinófilos es similar en ambos grupos de pacientes asmáticos, aunque en los PAA dicha expresión podría estar en parte modulada por el CD23s procedente de los linfocitos. (AU)

Bronchial hyperreactivity in fresh stage I sarcoidosis.

In order to analyze the mechanism of airways obstruction seen in patients with early sarcoidosis, we have studied the bronchial reactivity in 12 patients with stage I sarcoidosis. The patients were given progressively increasing doses of methacholine to inhale. A fall of more than 35% of the SGaw was taken as the index of response. In 6 out of 12 patients (responders), we observed a dose-response curve similar to that seen in subjects with highly reactive airways. We could not find any difference between responders and nonresponders that could explain the diverse responses to the methacholine. Nevertheless, the modifications in different mechanical parameters showed that the inhaled methacholine induced two types of changes: a change in lung volumes (RV and FVC), observed mainly in the nonresponders, and a change in forced expiratory flows (FEV1, MEF25, and MEF50), observed in the responders. These types of response may suggest a different site of action of the inhaled agent. We conclude that the presence of airways hyperreactivity is frequent in early sarcoidosis and could perhaps explain the incidence of airways obstruction seen in this disease.

[Cystic lymphangiomas of the mediastinum. Apropos of 2 cases and a review of the literature]. / Lymphangiomes kystiques du médiastin. A propos de 2 cas, revue de la littérature.

Two cases of patients suffering from a cystic lymphangioma of the mediastinum are presented. The literature is reviewed and the surgical and pathological findings are commented.

[A prospective study of pulmonary function in sarcoidosis (author's transl)]. / Función pulmonar en la sarcoidosis: estudio prospectivo.

A prospective study of 21 patients with sarcoidosis has been carried out. The patients were divided into two groups with (B) or without (A) radiological evidence of pulmonary involvement. The results show that there exists a correlation only between pulmonary restriction and the degree of radiological involvement, and that the alteration of the other measured functions (pulmonary diffusion, elasticity, peripheral airway involvement) is independent of the radiological stage of the disease. The findings are compared to those of the literature, and the relative value of the different tests in the diagnosis of pulmonary sarcoidosis are discussed.

[Farmer's lung. Report of a case (author's transl)]. / Pulmón de granjero: a propósito de una observación.

Asthenia, anorexia, fever, weight loss, dyspnea and cough developed insidiously over 3 months in a patient working in a farm and exposed to moldy organic dusts (hay and alfalfa). Complete recovery occurred when exposure was stopped, but symptoms reappeared when the patient took the same job again. Pulmonary function tests showed reduced compliance and diffusion of gases. The demonstration of precipitating antibodies to moldy hay extracts confirmed the diagnosis of farmer's lung. Eight months after discontinuance of exposure and on steroid therapy the patient was asymptomatic with spirometric values within normal limits. Chest roentgenogram showed a residual finely reticular pattern in the superior lobules. The importance of an early diagnosis and subsequent change of job in order to avoid irreversible pulmonary fibrosis is stressed.