OBJECTIVE: To compare class I/II cystic fibrosis transmembrane conductance regulator (CFTR) mutations to class III-V mutations with regards to cystic fibrosis disease severity markers in children. MATERIAL AND METHODS: This study was designed as a cross-sectional study in Antalya province, located on the south coast of Turkey. The study included 38 cystic fibrosis patients aged between 0.6 and 18 years. The CFTR genotype of the patients was categorized into 2 groups based on the presence or absence of class I or class II mutations in any of the alleles. Group I comprised 8 homozygous, 8 with unknown alleles, and 8 compound heterozygous patients, and group II comprised 11 homozygous and 3 compound heterozygous patients. The groups were analyzed in respect of cystic fibrosis disease severity markers, such as spirometry, ShwachmanKulczycki score, body mass index (BMI), sweat chloride concentration, chronic Pseudomonas aeruginosa infection, annual exacerbation frequency, and severe exacerbations requiring hospitalization during the previous year. RESULTS: In the comparison of group I and group II patients, a significant difference was observed in pancreas insufficiency (83.3% vs. 35.7%; P = .005), chronic P. aeruginosa infection (58.3% vs. 7.1%; P = .002), cough severity score (1.7 ± 1.1 vs. 0.9 ± 1.5; P = .029), number of severe exacerbations requiring hospitalization during the previous year (0.9 ± 1 vs. 0.3 ± 0.8; P = .03), and sweat chloride levels (76.7 ± 15.2 vs. 61 ± 22.3; P = .02). All these values were higher in group I patients. The mean BMI values (15.8 ± 2.2 vs. 17.6 ± 2.8; P = .03) were lower in group I patients. CONCLUSION: There seems to be a difference between class I/II CFTR mutations and class III-V mutations on the severity of the disease in cystic fibrosis patients.
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Cystic fibrosis (CF) is the most common severe autosomal recessive disorder in Caucasians. A homozygous change of the CF transmembrane regulator gene causes viscosity in pancreatic and bronchial secretion. Obstruction of secretion is responsible for liver and biliary tract symptoms. Congenital cystic adenomatoid malformation (CCAM) is a rare lung disorder of unknown etiology affecting the distal bronchi. It is important because of the risk of recurrent lung infections and malignancy. A 3-month-old female patient was brought to our hospital with symptoms of insufficient weight gain and pale appearance. The patient was hospitalized with a pre-diagnoses of malnutrition, hemolytic anemia, and cholestasis. She was diagnosed with CF liver disease and congenital adenomatoid malformation following thorough evaluation. Our patient with CF liver disease and pancreatic involvement was found to have a deltaF508 homozygous change. Our case is reported because of the rare association of hereditary CF disease and CCAM of unknown cause.
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A 17-year old girl admitted to our outpatient unit with hoarseness and shortness ofbreath. Her physical examination showed nasal deformity. Her medical history included the diagnosis of uveitis and type 1 diabetes mellitus (DM) as well as asthma and chronic sinusitis. Diagnostic work-up showed involvement of the upper respiratory tract (saddle nose deformity, chronicsinusitis), laryngo-tracheo-bronchial involvement (subglottic and bronchial stenosis) and pulmonary involvement (pulmonary nodules) leading to a diagnosis of granulomatous polyangiitis(GPA). We report this child on the basis of the fact that coexistence of type 1 DM and GPA hasnever been reported in our country previously.
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