Atypical Sinusitis in Adults Must Lead to Looking for Cystic Fibrosis and Primary Ciliary Dyskinesia

Coste, A.; Girodon, E.; Louis, Shron; Prulière-Escabasse, V.; Goossens, Michel; Peynègre, R; Escudier, Estelle

doi:10.1097/00005537-200405000-00009

Cited by 49 publications

(22 citation statements)

References 28 publications

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“…Primary ciliary dyskinesia (PCD) is associated with RS as 1 of the elements of disease presentation. 610,611 Although genetic syndromes with CRS implicate genes logically linked with disease such as epithelial function 612 and defects in innate and adaptive immunity, 7 this is not always the case. Numerous genetic associations have been suggested that are difficult to link mechanistically to CRS development.…”

Section: Discussionmentioning

confidence: 99%

International Consensus Statement on Allergy and Rhinology: Rhinosinusitis

Orlandi

Kingdom

Hwang

et al. 2016

Int Forum Allergy Rhinol

554

888

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Background:The body of knowledge regarding rhinosinusitis (RS) continues to expand, with rapid growth in number of publications, yet substantial variability in the quality of those presentations. In an effort to both consolidate and critically appraise this information, rhinologic experts from around the world have produced the International Consensus Statement on Allergy and Rhinology: Rhinosinusitis (ICAR:RS). Methods:Evidence-based reviews with recommendations (EBRRs) were developed for scores of topics, using previously reported methodology. Where existing evidence was insufficient for an EBRR, an evidence-based review (EBR) was produced. The sections were then synthesized and the entire manuscript was then reviewed by all authors for consensus. Results:The resulting ICAR:RS document addresses multiple topics in RS, including acute RS (ARS), chronic RS (CRS) with and without nasal polyps (CRSwNP and CRSsNP), recurrent acute RS (RARS), acute exacerbation of CRS (AE-CRS), and pediatric RS. Conclusion:As a critical review of the RS literature, ICAR:RS provides a thorough review of pathophysiology and evidence-based recommendations for medical and surgical treatment. It also demonstrates the significant gaps in our understanding of the pathophysiology and optimal management of RS. Too o en the foundation upon which these recommendations are based is comprised of lowerlevel evidence. It is our hope that this summary of the evidence in RS will point out where additional research efforts may be directed. C 2016 ARS-AAOA, LLC. Key Words:rhinosinusitis; chronic rhinosinusitis; acute rhinosinusitis; recurrent acute rhinosinusitis; evidence-based medicine; systematic review; endoscopic sinus surgery List of Abbreviations Used

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Section: Discussionmentioning

confidence: 99%

International Consensus Statement on Allergy and Rhinology: Rhinosinusitis

Orlandi

Kingdom

Hwang

et al. 2016

Int Forum Allergy Rhinol

554

888

View full text Add to dashboard Cite

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“…These are clinical entities associated with CFTR dysfunction but where the diagnosis of CF cannot be unambiguously established; 1 for example, congenital bilateral absence of vas deferens (CBAVD) 9 -13 disseminated bronchiectasis, 14,15 chronic pancreatitis, 16,17 or chronic rhinosinusitis. 18,19 CFTR gene analyses are performed in specialist clinical molecular genetics laboratories closely associated with clinical genetic services or research facilities, and also in private laboratories; lists of European laboratories offering CFTR genetic testing are available at www.orpha.net or at www.eurogentest.org/web/qa/basic.xhtml. A good knowledge of CFTR diseases and their molecular pathology is required when choosing tools and strategies and when interpreting results.…”

Section: Introductionmentioning

confidence: 99%

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Dequeker

Stuhrmann

Morris³

et al. 2008

Eur J Hum Genet

211

160

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The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000). The importance of organizing regional or national laboratory networks, to provide both primary and comprehensive CFTR mutation screening, is stressed. Current guidelines focus on strategies for dealing with increasingly complex situations of CFTR testing. Diagnostic flow charts now include testing in CFTR-related disorders and in fetal bowel anomalies. Emphasis is also placed on the need to consider ethnic or geographic origins of patients and individuals, on basic principles of risk calculation and on the importance of providing accurate laboratory reports. Finally, classification of CFTR mutations is reviewed, with regard to their relevance to pathogenicity and to genetic counselling.

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“…Coste et al found a high prevalence of at least one CFTR mutation (38%) among patients with atypical CRS. They concluded that CFTR mutations predispose to CRS among children and adults and that mutation in the CFTR gene may play a role in the pathogenesis of CRS, in the absence of a frank CF [21].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of rhinosinusitis among atypical cystic fibrosis patients

Marshak

Rivlin

Bentur

et al. 2010

Eur Arch Otorhinolaryngol

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The objective of this paper is to study the correlation between sinonasal involvement and type of cystic fibrosis (CF) in Israeli's CF patients. The comparative study includes 70 CF patients: 40 typical and 30 atypical CF patients. History and physical examination data were recorded, including endoscopic nasal examination as well as sinus computer tomography scan. The data collected from the two groups were statistically analyzed. Twenty-seven percent of atypical CF patients compared with 2.5% of typical CF patients had CF presenting symptoms of chronic rhinosinusitis (CRS) or obstructive nasal polyps (p < 0.001). Although severe CRS was found slightly more often in patient with atypical CF (43 vs. 32.5%), this difference did not reach statistical significance. Nine patients with severe CRS underwent endoscopic sinus surgery. Among these patients, six (66.6%) had atypical CF and only three (33.3%) had typical CF (p = 0.09). In conclusion, severe CRS is a common diagnosis among patients with typical and atypical CF disease. In the current study, no significant difference in the frequency of CRS was found between the two groups. High awareness toward the diagnosis of atypical CF, careful medical history focusing on sinonasal involvement and physical examination, including nasal endoscopy, for all CF patients (typical and atypical CF) may contribute to an early detection and treatment of significant sinonasal involvement, and may improve the quality of life of the patients.

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Atypical Sinusitis in Adults Must Lead to Looking for Cystic Fibrosis and Primary Ciliary Dyskinesia

Cited by 49 publications

References 28 publications

International Consensus Statement on Allergy and Rhinology: Rhinosinusitis

International Consensus Statement on Allergy and Rhinology: Rhinosinusitis

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Prevalence of rhinosinusitis among atypical cystic fibrosis patients

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