PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 15136409

Genetics of COPD.

Néstor A Molfino
View original source ↗Export metadata ↓

Abstract

COPD is a complex mix of signs and symptoms in patients with chronic bronchitis and emphysema, diseases that largely result from cigarette smoking. Not all smokers, however, acquire COPD, and COPD can develop in nonsmokers. In the United States, COPD is currently the fourth leading cause of death. Surprisingly, there are no effective drug therapies for COPD that are able to significantly alter disease progression, and little is known of the underlying molecular mechanisms that are responsible for its occurrence. Candidate gene-association studies and linkage analyses have been reported for COPD patients. This review describes the genetic predisposition of healthy subjects or relatives of COPD patients to acquire COPD. In addition, the genetic bases of COPD with rapid decline of FEV1 are described, and the current genetic data that have been distilled from studies of COPD patients with a predominant emphysema phenotype, with chronic bronchitis phenotype, and with a response to bronchodilators are discussed.

Explore related subjects

BronchitisBronchodilator AgentsGenotypeHumansPhenotypePulmonary Disease, Chronic ObstructivePulmonary EmphysemaRiskSmokingJournal ArticleReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Néstor A Molfino. 2004. Genetics of COPD.. https://doi.org/10.1378/chest.125.5.1929

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2006

Late diagnosis of foreign body aspiration in children with chronic respiratory symptoms.

BACKGROUND: Children with undiagnosed and retained foreign bodies (FBs) may present with persistent respiratory symptoms. Delayed diagnosis is an important problem in developing countries and several factors affect the delay. OBJECTIVES: To investigate, the incidence of clinically unsuspected foreign body aspiration (FBA) in our flexible bronchoscopy procedures, the causes resulting in late diagnosis of FBA, and the incidence of the complications of FBA according to elapsed time between aspiration and diagnosis. METHODS: We reviewed the records of all the patients who underwent flexible bronchoscopy between 1997 and 2004 in our clinic. Patients with FBA were identified and their medical records were reviewed. RESULTS: During the study period, 654 children underwent flexible bronchoscopy; 32 cases (4.8%) of FBA were identified. Median age of patients was 29.5 months at presentation with a median symptomatic period of 3 months. None of the patients had a history of FBA. The most common misdiagnosis was bronchitis. Flexible bronchoscopy was performed to these patients within 1 week following presentation. In 87% of the patients (n=28), FBs were in organic nature. Patients were followed up for 21.0 months after removal of the FBs. Fifty-three percent (n=17) of the patients had a complete remission after bronchoscopic removal of the FBs. However, nine (28.8%) patients had chronic respiratory problems and six patients (18.8%) developed bronchiectasis. CONCLUSIONS: Atypical or prolonged respiratory symptoms should alert the physician and clinical and radiological findings should be carefully evaluated for a possible FBA. Delay in diagnosis and treatment of FBA should be avoided to prevent complications.

Bronchitis↗
PubMed2006

Isolated tracheoesophageal fistula in a 10-year-old girl.

Isolated tracheoesophageal fistula (H-TOF) is a rare type of tracheoesophageal anomaly and is in most cases diagnosed in the neonatal period because of choking and cyanosis during feeding. Diagnosis may be delayed even until adulthood because of nonspecific and sometimes intermittent symptoms, and because false-negative results of all diagnostic tools are not uncommon. We report a 10-year-old child with H-TOF, whose symptoms had nearly disappeared completely between the ages of 4 and 10 years. Diagnosis was only possible after the recurrence of the symptoms at the time of an episode of bronchitis, profound interrogation of the child's medical history, and questioning of the results of a former diagnostic work-up. In this article, we discuss the potential pitfalls in both clinical diagnosis and diagnostic work-up.

Bronchitis↗
PubMed2006

Endobronchial fungal disease: an under-recognized entity.

Most fungi enter the human body via inhalation; however, endobronchial fungal infection (EBFI) seems to be a rare manifestation compared to pulmonary or systemic disease. This presentation seems to be related to environmental factors as well as to the host status. With the increasing popularity of flexible bronchoscopy, it is being recognized with a higher frequency. Bronchoscopic findings in EBFI vary from mild mucosal inflammation to central airway obstruction. We searched English literature related to the topic and found 228 total cases of EBFI: Aspergillus species (121), Coccidioides immitis (38), Zygomycetes (31), Candida species (14) Cryptococcus neoformans (13), and Histoplasma capsulatum (11). We have also included a single case of endobronchial Pseudallescheria boydii infection in a lung transplant recipient that has not been reported previously. Most patients were immunocompromised, exhibited systemic manifestations of the primary infection, and responded to appropriate therapy. EBFI should be included in the differential diagnosis of any form of airway lesions in immunocompromised patients, especially among residents from the endemic areas.

Bronchitis↗