INCLUSION CRITERIA:
Inclusion criteria for patients with AAT deficiency include: (1) Diagnosis of AAT with a confirmed phenotype considered in the high risk category; (2) Clinical phenotype consistent with potential genetic diseases and other genetic causes of lung diseases (3) symptoms consistent with pulmonary disease; (4) chest x-ray consistent with pulmonary disease; (5) pulmonary function tests consistent with pulmonary disease; (6) smokers, defined as individuals who are current smokers (1 pack per day for at least 2 years) and nonsmokers, defined as never-smokers or ex-smokers who have quit smoking three or more years ago;
Inclusion criteria for individuals with chronic obstructive pulmonary diseases include:
(1) symptoms consistent with pulmonary disease
(2) chest x-ray consistent with pulmonary disease
(3) pulmonary function tests consistent with pulmonary disease;
(4) smokers, defined as individuals who are current smokers (1 pack per day for at least 2 years) and nonsmokers, defined as never-smokers or ex-smokers who have not smoked for three or more years.
Inclusion criteria for patients with cystic fibrosis include a defined genetic mutation (i.e., any of the known variants of the CFTR gene, such as delta F508 allele) or a cystic fibrosis phenotype and clinical features consistent with this disease. Children with cystic fibrosis over eight years of age may be included.
Patients with established diagnoses of sarcoidosis; mycobacterial infections; TSC; cystic lung disease including genetic diseases; lymphangioleiomyomatosis or diseases associated with lymphatic disorders; history of pneumothorax; pulmonary fibrosis; asthma; histiocytosis X and diabetes mellitus will be included in this protocol.
Research volunteers in the pulmonary control group are defined as individuals with no pulmonary disease (e.g. rheumatoid arthritis without evidence of pulmonary disease). Research volunteers in the diabetes control group are defined as individuals with no history of diabetes, coronary artery disease, or pulmonary disease.
Because radiation exposure is not required, pregnant women are not excluded from the study.
EXCLUSION CRITERIA:
Exclusion criteria for all participants include:
(1) age less than 18 or greater than 80 except for patients with cystic fibrosis or unless patient-specific IRB approval is obtained; and
(2) inability to obtain reliable pulmonary function testing.
Exclusion criteria for participating in the x-ray portion of the study is pregnancy.
Exclusion criteria for participating in the bronchoscopy portion of the study are:
(1) presence of any contraindication for fiberoptic bronchoscopy, with lavage and/or bronchial brushing
(2) advanced stage of a pulmonary or a systemic illness such that the risk is judged to be significant even in the absence of a specific contraindication to the procedure
(3) allergy to topical anesthetic (e.g., lidocaine)
(4) current or recent respiratory infection (within the last 4 weeks)
(5) pregnancy or lactation
(6) age less than 18 or greater than 65.