Background: Cystic fibrosis (CF) transmembrane conductance receptor (CFTR)-related disease is diagnosed in patients affected by CFTR dysfunction who do not fully meet the CF diagnostic criteria. Only 2% of all CF patients have CFTR-related disease. We define the demographic characteristics of such patients, described the performance of mutational analyses, and describe the clinical findings. Methods: Twenty-four patients were followed-up for CFTR-related disease. Patients with CF symptoms but who did not completely fulfil the CF diagnostic criteria were enrolled. Age, body mass index at the times of diagnosis and admission, symptoms, pulmonary function and fecal elastase test results, gene analyses, and clinical findings during follow-up were evaluated. Results: Ten patients (42%) were female and 14 (58%) male. Their mean age was 15.3 years (minimum-maximum 6-20 years). The mean age at diagnosis was 8.5 years (minimum-maximum 3-14 years) and the most common presenting complaint was a cough (n = 19). During follow up, chronic sinusitis developed in 15 patients, bronchiectasis in 13, nasal polyposis in six, failure to thrive in three, recurrent pancreatitis in two, asthma in one, and congenital bilateral absence of the vas deferens in one. Fecal elastase levels were low in only one of the three patients who failed to thrive. In terms of CFTR gene mutations, two were found in 10 patients, one in eight patients, and none in six. Conclusions: Cystic fibrosis transmembrane conductance receptor-related disease presents with various clinical findings. Serious symptoms may develop later in life. Late diagnosis significantly compromises the quality and duration of life in such patients.
Non-cyctic fibrosis bronchiectasis (non-CFBE) is a chronic inflammatory lung disease which causes significant morbidity in children. Exacerbations in non-CFBE are associated with worsening lung function. Several laboratory parameters such as neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and mean platelet volume (MPV) have been suggested to be as an indicator in various chronic inflammatory diseases. We aimed to asses the value of the NLR, PLR and MPV as markers of acute exacerbation in pediatric patients with non-CFBE. Materials and methods: The NLR, PLR, and MPV values of 55 non-CFBE patients (during exacerbation and stable state periods) and 79 healthy control subjects were analyzed. Results: The mean ages for the patient and control group were 13.62±3.5 and 12.72±2.68 years, respectively. 64% of patients and 54% of control subjects were male. The white blood cell count, absolute neutrophil count, and NLR values were significantly higher in the exacerbation group than in the healthy control group (p<0.05). MPV and PLR values were not significantly different between the two groups. Only forced expiratory volume in one second (FEV1) and C-reactive protein (CRP) level were significantly different (p<0.001) between the acute exacerbation and stable state periods in the patient group. Conclusion: Despite the NLR value being significantly higher in children with non-CFBE than in healthy control subjects, it did not differentiate between the steady-state and acute exacerbations periods of the disease. PLR and MPV values also cannot be used as markers of acute exacerbation in children with non-CFBE.
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