Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020440 (hypercapnia)
 7,939 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nineteen patients with cystic fibrosis were seen in the I Department of Tuberculosis and Lung Diseases during 3.5 years. There were 12 (63%) female, and 7 male, aged from 16 to 35 years (mean 23.2). Most patients were diagnosed in childhood, but 4 were diagnosed in their early adulthood. The diagnosis was confirmed by positive chloride sweat test in all cases. Molecular DNA analyses were performed in 16 cases. In 9 (56%) cases two mutations in the CFTR gene were identified. In 5 cases one mutation was identified. All patients had bronchiectases confirmed by CT. Spirometry showed lung function impairment with predominantly obstructive pattern. Mean VC was 2.57l, mean FEVI was 1.66l. In 7 (37%) cases FEVI was lower then 30% of predictive value. Hypoxemia was found in 11 (58%) cases and hypercapnia in 3 (16%) cases. Sputum cultures were positive for mucoid P. aeruginosa in 12 (63%) cases, for Staph. aureus in 16 (84%) cases. Persistent colonisation with nontuberculous mycobacteria was found in 2 (10.5%) cases. Aspergillus fumigatus was identified in sputum cultures in 2 subjects who had also positive precipitation test. Diabetes mellitus was diagnosed in 2 cases. Meconium ileus equivalent was seen in 1 case. Pneumothorax was seen in 1 case. One patient died in the endstage of the illness.
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PMID:[Cystic fibrosis in adults--clinical aspects]. 948 15