Diagnosis of Cystic Fibrosis in Adults

Go, L.; Jain, Manu

doi:10.1097/cpm.0b013e31825d5c5d

Clinical Pulmonary Medicine

2012

DOI: 10.1097/cpm.0b013e31825d5c5d

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Diagnosis of Cystic Fibrosis in Adults

L. Go¹,

Manu Jain

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Cited by 2 publications

References 48 publications

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Nasal Potential Difference in Cystic Fibrosis considering SevereCFTRMutations

Marson

Ribeiro

et al. 2015

Disease Markers

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The gold standard for diagnosing cystic fibrosis (CF) is a sweat chloride value above 60 mEq/L. However, this historical and important tool has limitations; other techniques should be studied, including the nasal potential difference (NPD) test. CFTR gene sequencing can identify CFTR mutations, but this method is time-consuming and too expensive to be used in all CF centers. The present study compared CF patients with two classes I-III CFTR mutations (10 patients) (G1), CF patients with classes IV-VI CFTR mutations (five patients) (G2), and 21 healthy subjects (G3). The CF patients and healthy subjects also underwent the NPD test. A statistical analysis was performed using the Mann-Whitney, Kruskal-Wallis, χ 2, and Fisher's exact tests, α = 0.05. No differences were observed between the CF patients and healthy controls for the PDMax, Δamiloride, and Δchloride + free + amiloride markers from the NPD test. For the finger value, a difference between G2 and G3 was described. The Wilschanski index values were different between G1 and G3. In conclusion, our data showed that NPD is useful for CF diagnosis when classes I-III CFTR mutations are screened. However, if classes IV-VI are considered, the NPD test showed an overlap in values with healthy subjects.

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Nasal Potential Difference in Cystic Fibrosis considering SevereCFTRMutations

Marson

Ribeiro

et al. 2015

Disease Markers

View full text Add to dashboard Cite

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Radiologic Diagnostic's Capabilities of Lung Injury in Adult Patients With Cystic Fibrosis

2019

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Relevance. The viability of patients is determined by the degree of lung injury despite the fact that cystic fibrosis (CF) is a multiple organ disease. Early diagnosis and adequate treatment complex of cystic fibrosis prolong the lives of patients and improves its quality. Therefore, timely and detailed diagnosis of cystic fibrosis lung is particularly important problem. The central role for its solution belongs to radiological studies. Objective. To refine the radiology’s capabilities in detecting lung changes in case of cystic fibrosis in adult patients and to determine the role of the computed tomography (CT) in the diagnostic process. Materials and methods. The results of radiography and CT scans of 15 patients, for whom the diagnosis of CF was established in adulthood, were analyzed. Results. The most typical radiographic and CT signs of lung damage were determined in adult CF patients. It has been shown that the radiographic changes in the lungs are non-specific for CF patients and are determined by the secondary inflammatory process. The diagnostic capabilities of CT scans in detecting subtle structural changes in the lung tissue and bronchial tree are underlined, which allows to diagnose light and atypical forms of CF in adults, determinate the stage and activity of the pathological process and the effectiveness of the treatment. Findings. The radiation studies were able to define the CF’s specific symptoms of lung lesions. Radiography of the thoracic cavity’s organs is a necessary step in the preliminary diagnosis for adult patients with CF or in the medical emergency's cases. The CT has the greatest diagnostic value in detecting subtle structural and functional specific changes of CF. The regular monitoring using CT scans is necessary for improving the control of the respiratory organs’ state and determine the further tactics for the particular patient.

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Diagnosis of Cystic Fibrosis in Adults

Cited by 2 publications

References 48 publications

Nasal Potential Difference in Cystic Fibrosis considering SevereCFTRMutations

Nasal Potential Difference in Cystic Fibrosis considering SevereCFTRMutations

Radiologic Diagnostic's Capabilities of Lung Injury in Adult Patients With Cystic Fibrosis

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