2005•PubMedOpen access

CFTR mutations and polymorphisms in adults with disseminated bronchiectasis: a controversial issue.

Aleksandra Divac Rankov, Aleksandra Nikolić, Marija Mitić-Milikić, Ljudmila M. Nagorni-Obradović, Nataša Petrović-Stanojević, Vesna Dopudja-Pantic, Ruzica Nadaskic, A Savic, Dragica P. Radojkovic

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Abstract

The recently published paper by King et al 1 prompted us to report the results of our study of 19 Serbian patients with disseminated bronchiectasis (DB) of unknown cause for whom complete screening of the CFTR gene was performed. Our patients consisted of four men and 15 women of mean age 54.5 years (range 24–79); the mean age at onset of the disease was 38.8 years. The diagnosis was based on high resolution computed tomographic (HRCT) scanning. Known and common causes of bronchiectasis such as primary ciliary dyskinesia, immunodeficiency, and α1­-antytripsin deficiency were excluded. Most of the patients had Pseudomonas aeruginosa isolated from their sputum. Pulmonary function tests were performed in …

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What this paper is about

The recently published paper by King et al 1 prompted us to report the results of our study of 19 Serbian patients with disseminated bronchiectasis (DB) of unknown cause for whom complete screening of the CFTR gene was performed. Our patients consisted of four men and 15 women of mean age 54.5 years (range 24–79); the mean age at onset of the disease was 38.8 years. The diagnosis was based on high resolution computed tomographic (HRCT) scanning. Known and common causes of bronchiectasis such as primary ciliary dyskinesia, immunodeficiency, and α1­-antytripsin deficiency were excluded. Most of the patients had Pseudomonas aeruginosa isolated from their sputum. Pulmonary function tests were performed in …

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Available abstract

The recently published paper by King et al 1 prompted us to report the results of our study of 19 Serbian patients with disseminated bronchiectasis (DB) of unknown cause for whom complete screening of the CFTR gene was performed. Our patients consisted of four men and 15 women of mean age 54.5 years (range 24–79); the mean age at onset of the disease was 38.8 years. The diagnosis was based on high resolution computed tomographic (HRCT) scanning. Known and common causes of bronchiectasis such as primary ciliary dyskinesia, immunodeficiency, and α1­-antytripsin deficiency were excluded. Most of the patients had Pseudomonas aeruginosa isolated from their sputum. Pulmonary function tests were performed in …

Key concepts: Primary ciliary dyskinesia, Bronchiectasis, Medicine, Sputum, Internal medicine, Pediatrics, Pulmonary function testing, High-resolution computed tomography

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CFTR mutations and polymorphisms in adults with disseminated bronchiectasis: a controversial issue. — Research Paper | ScholarLens