ABSTRACT
BACKGROUND: Despite numerous studies a clear relationship between genotype and pulmonary phenotype has not been established within the group pancreatic insufficient cystic fibrosis (CF) patients. We studied the relationship between class I and class II mutations and pulmonary function in Swedish patients with known CFTR functional classification. METHODS: 170 CF patients with two class II mutations, 18 with two class I mutations and 78 with a combination of class I and II mutations were included in the study. Spirometry was performed when patients were in an optimal clinical condition. RESULTS: Patients with two class I mutations had lower lung function (FEV(1) and FVC) compared to the group with either a combination of class I and II mutations or two class II mutations. CONCLUSION: CF patients carrying two class I mutations risk developing more severe lung disease compared to patients with at least one class II mutation.
Subject(s)
Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/genetics , Exocrine Pancreatic Insufficiency/etiology , Genotype , Lung/physiopathology , Mutation , Phenotype , Adolescent , Adult , Child , Cross-Sectional Studies , Cystic Fibrosis/complications , Cystic Fibrosis/physiopathology , Female , Forced Expiratory Volume , Genetic Predisposition to Disease , Humans , Male , Severity of Illness Index , Vital Capacity , Young AdultABSTRACT
AIM: To evaluate the response rate to antimycobacterial drug therapy in patients with cystic fibrosis (CF) suffering from infection by non-tuberculous mycobacteria (NTM). METHODS: Ten patients, aged 10-34 y, out of 180 CF patients, were diagnosed with NTM disease. They had been regularly checked and examined for pulmonary symptoms, and had had chest X-rays and sputum cultures (including for mycobacteria) performed. One additional 36-y-old female received her CF diagnosis soon after the NTM diagnosis. RESULTS: Mycobacterium avium-intracellulare complex (MAC) was found in 10 out of 11 patients and M. kansasii in 1 patient. Treatment with antimycobacterial drugs resulted in clinical improvement (weight gain or stabilization of weight and/or improved or stabilized lung function in 8 out of 11 patients) and mycobacterial culture turned negative in 10 out of 1. CONCLUSION: Promising results may be associated with early intervention with antimycobacterial therapy in CF patients.