Comparison of radiographic and clinical characteristics of low-risk and high-risk cystic fibrosis genotypes

Background Patients with cystic fibrosis (CF) exhibit a wide range of disease severity, and can be broadly stratified into high‐risk and low‐risk groups based on cystic fibrosis transmembrane conductance regulator (CFTR) mutation class. Patients with a low‐risk genotype are often diagnosed as adults...

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Veröffentlicht in:International forum of allergy & rhinology 2014-11, Vol.4 (11), p.915-920
Hauptverfasser: Ferril, Geoffrey R., Nick, Jerry A., Getz, Anne E., Barham, Henry P., Saavedra, Milene T., Taylor-Cousar, Jennifer L., Nichols, David P., Curran-Everett, Douglas, Kingdom, Todd T., Ramakrishnan, Vijay R.
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container_end_page 920
container_issue 11
container_start_page 915
container_title International forum of allergy & rhinology
container_volume 4
creator Ferril, Geoffrey R.
Nick, Jerry A.
Getz, Anne E.
Barham, Henry P.
Saavedra, Milene T.
Taylor-Cousar, Jennifer L.
Nichols, David P.
Curran-Everett, Douglas
Kingdom, Todd T.
Ramakrishnan, Vijay R.
description Background Patients with cystic fibrosis (CF) exhibit a wide range of disease severity, and can be broadly stratified into high‐risk and low‐risk groups based on cystic fibrosis transmembrane conductance regulator (CFTR) mutation class. Patients with a low‐risk genotype are often diagnosed as adults, with milder disease and lower sweat chloride values. The aim of the current study was to better understand radiographic and clinical characteristics of sinus disease in adult CF patients within this risk category. Methods Adult CF patients were retrospectively compared to a control group of patients with chronic rhinosinusitis. CF diagnostic testing and pulmonary characteristics were compared between high‐risk and low‐risk CF groups, and sinus CT findings were compared among all 3 groups. Results When comparing CF cohorts (n = 25 and 30, respectively), earlier age at diagnosis (p < 0.001), higher sweat chloride values (p < 0.001), lower forced expiratory volume in 1 second (FEV1) values (p < 0.001), and a higher prevalence of pulmonary infection with Pseudomonas aeruginosa (p = 0.001) were found in the high‐risk genotype group. A significantly increased incidence of sinus hypoplasia/aplasia and bony sclerosis was seen when comparing both CF groups to the control cohort (n = 30), as well as when comparing the high‐risk and low‐risk CF genotype cohorts. Conclusion The current study describes clinicopathologic findings of sinus disease in adult CF patients in the context of genotype severity. Our data demonstrate that while patients within a low‐risk genotype cohort have generally milder lung disease, they retain classic radiographic findings of CF sinus disease that can help raise the index of suspicion for undiagnosed CF.
doi_str_mv 10.1002/alr.21412
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Patients with a low‐risk genotype are often diagnosed as adults, with milder disease and lower sweat chloride values. The aim of the current study was to better understand radiographic and clinical characteristics of sinus disease in adult CF patients within this risk category. Methods Adult CF patients were retrospectively compared to a control group of patients with chronic rhinosinusitis. CF diagnostic testing and pulmonary characteristics were compared between high‐risk and low‐risk CF groups, and sinus CT findings were compared among all 3 groups. Results When comparing CF cohorts (n = 25 and 30, respectively), earlier age at diagnosis (p &lt; 0.001), higher sweat chloride values (p &lt; 0.001), lower forced expiratory volume in 1 second (FEV1) values (p &lt; 0.001), and a higher prevalence of pulmonary infection with Pseudomonas aeruginosa (p = 0.001) were found in the high‐risk genotype group. A significantly increased incidence of sinus hypoplasia/aplasia and bony sclerosis was seen when comparing both CF groups to the control cohort (n = 30), as well as when comparing the high‐risk and low‐risk CF genotype cohorts. Conclusion The current study describes clinicopathologic findings of sinus disease in adult CF patients in the context of genotype severity. Our data demonstrate that while patients within a low‐risk genotype cohort have generally milder lung disease, they retain classic radiographic findings of CF sinus disease that can help raise the index of suspicion for undiagnosed CF.</description><identifier>ISSN: 2042-6976</identifier><identifier>EISSN: 2042-6984</identifier><identifier>DOI: 10.1002/alr.21412</identifier><identifier>PMID: 25224556</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Adult ; Case-Control Studies ; CFTR ; Chlorides - metabolism ; Chronic Disease ; cystic fibrosis ; Cystic Fibrosis - diagnostic imaging ; Cystic Fibrosis - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; Female ; Forced Expiratory Volume - physiology ; Genotype ; Humans ; Male ; Middle Aged ; Mutation - genetics ; Paranasal Sinuses - abnormalities ; Paranasal Sinuses - diagnostic imaging ; Pseudomonas aeruginosa ; Pseudomonas Infections - complications ; Retrospective Studies ; Rhinitis - diagnostic imaging ; Risk Factors ; sinus CT ; sinus radiography ; sinusitis ; Sinusitis - diagnostic imaging ; Sweat - chemistry ; Tomography, X-Ray Computed</subject><ispartof>International forum of allergy &amp; rhinology, 2014-11, Vol.4 (11), p.915-920</ispartof><rights>2014 ARS‐AAOA, LLC</rights><rights>2014 ARS-AAOA, LLC.</rights><rights>2014 ARS-AAOA, LLC</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4612-bd18bfb38da642b252c2261bf1a0a6cb83bbbf930bdd8dcd8974fef97a973c1c3</citedby><cites>FETCH-LOGICAL-c4612-bd18bfb38da642b252c2261bf1a0a6cb83bbbf930bdd8dcd8974fef97a973c1c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Falr.21412$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Falr.21412$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,27915,27916,45565,45566</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25224556$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ferril, Geoffrey R.</creatorcontrib><creatorcontrib>Nick, Jerry A.</creatorcontrib><creatorcontrib>Getz, Anne E.</creatorcontrib><creatorcontrib>Barham, Henry P.</creatorcontrib><creatorcontrib>Saavedra, Milene T.</creatorcontrib><creatorcontrib>Taylor-Cousar, Jennifer L.</creatorcontrib><creatorcontrib>Nichols, David P.</creatorcontrib><creatorcontrib>Curran-Everett, Douglas</creatorcontrib><creatorcontrib>Kingdom, Todd T.</creatorcontrib><creatorcontrib>Ramakrishnan, Vijay R.</creatorcontrib><title>Comparison of radiographic and clinical characteristics of low-risk and high-risk cystic fibrosis genotypes</title><title>International forum of allergy &amp; rhinology</title><addtitle>Int Forum Allergy Rhinol</addtitle><description>Background Patients with cystic fibrosis (CF) exhibit a wide range of disease severity, and can be broadly stratified into high‐risk and low‐risk groups based on cystic fibrosis transmembrane conductance regulator (CFTR) mutation class. Patients with a low‐risk genotype are often diagnosed as adults, with milder disease and lower sweat chloride values. The aim of the current study was to better understand radiographic and clinical characteristics of sinus disease in adult CF patients within this risk category. Methods Adult CF patients were retrospectively compared to a control group of patients with chronic rhinosinusitis. CF diagnostic testing and pulmonary characteristics were compared between high‐risk and low‐risk CF groups, and sinus CT findings were compared among all 3 groups. Results When comparing CF cohorts (n = 25 and 30, respectively), earlier age at diagnosis (p &lt; 0.001), higher sweat chloride values (p &lt; 0.001), lower forced expiratory volume in 1 second (FEV1) values (p &lt; 0.001), and a higher prevalence of pulmonary infection with Pseudomonas aeruginosa (p = 0.001) were found in the high‐risk genotype group. A significantly increased incidence of sinus hypoplasia/aplasia and bony sclerosis was seen when comparing both CF groups to the control cohort (n = 30), as well as when comparing the high‐risk and low‐risk CF genotype cohorts. Conclusion The current study describes clinicopathologic findings of sinus disease in adult CF patients in the context of genotype severity. Our data demonstrate that while patients within a low‐risk genotype cohort have generally milder lung disease, they retain classic radiographic findings of CF sinus disease that can help raise the index of suspicion for undiagnosed CF.</description><subject>Adult</subject><subject>Case-Control Studies</subject><subject>CFTR</subject><subject>Chlorides - metabolism</subject><subject>Chronic Disease</subject><subject>cystic fibrosis</subject><subject>Cystic Fibrosis - diagnostic imaging</subject><subject>Cystic Fibrosis - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>Female</subject><subject>Forced Expiratory Volume - physiology</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>Paranasal Sinuses - abnormalities</subject><subject>Paranasal Sinuses - diagnostic imaging</subject><subject>Pseudomonas aeruginosa</subject><subject>Pseudomonas Infections - complications</subject><subject>Retrospective Studies</subject><subject>Rhinitis - diagnostic imaging</subject><subject>Risk Factors</subject><subject>sinus CT</subject><subject>sinus radiography</subject><subject>sinusitis</subject><subject>Sinusitis - diagnostic imaging</subject><subject>Sweat - chemistry</subject><subject>Tomography, X-Ray Computed</subject><issn>2042-6976</issn><issn>2042-6984</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10U9P2zAUAHBrGhoIOOwLTJG4bIe0sR07zhGVDQYRk9Bg0i6W_7amaZzZrUq__RwCPSDhi_2k33t6fg-Az7CYwKJAU9GGCYIlRB_AESpKlNOalR_374oegtMYH4t0CCQEVp_AISIIlYTQI7Cc-VUvgou-y7zNgtDOz4PoF05lotOZal3nlGgztRBBqLVJdO1UHHDrt3kKl89w4eaLMVK7QWTWyeCji9ncdH696008AQdWtNGcvtzH4P7H99-zq7z5dflzdt7kqqQQ5VJDJq3ETAtaIpl6VQhRKC0UhaBKMiyltDUupNZMK83qqrTG1pWoK6ygwsfg61i3D_7fxsQ1X7moTNuKzvhN5JBCxhAjNUn07A199JvQpe4GVUFGGR7Ut1Gp9KMYjOV9cCsRdhwWfFgCT0vgz0tI9stLxY1cGb2XryNPYDqCrWvN7v1K_Ly5ey2Zjxlp9OZpnyHCktMKV4T_ub3kuLm4u35o_vIb_B_gUqFe</recordid><startdate>201411</startdate><enddate>201411</enddate><creator>Ferril, Geoffrey R.</creator><creator>Nick, Jerry A.</creator><creator>Getz, Anne E.</creator><creator>Barham, Henry P.</creator><creator>Saavedra, Milene T.</creator><creator>Taylor-Cousar, Jennifer L.</creator><creator>Nichols, David P.</creator><creator>Curran-Everett, Douglas</creator><creator>Kingdom, Todd T.</creator><creator>Ramakrishnan, Vijay R.</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>201411</creationdate><title>Comparison of radiographic and clinical characteristics of low-risk and high-risk cystic fibrosis genotypes</title><author>Ferril, Geoffrey R. ; Nick, Jerry A. ; Getz, Anne E. ; Barham, Henry P. ; Saavedra, Milene T. ; Taylor-Cousar, Jennifer L. ; Nichols, David P. ; Curran-Everett, Douglas ; Kingdom, Todd T. ; Ramakrishnan, Vijay R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4612-bd18bfb38da642b252c2261bf1a0a6cb83bbbf930bdd8dcd8974fef97a973c1c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adult</topic><topic>Case-Control Studies</topic><topic>CFTR</topic><topic>Chlorides - metabolism</topic><topic>Chronic Disease</topic><topic>cystic fibrosis</topic><topic>Cystic Fibrosis - diagnostic imaging</topic><topic>Cystic Fibrosis - genetics</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</topic><topic>Female</topic><topic>Forced Expiratory Volume - physiology</topic><topic>Genotype</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation - genetics</topic><topic>Paranasal Sinuses - abnormalities</topic><topic>Paranasal Sinuses - diagnostic imaging</topic><topic>Pseudomonas aeruginosa</topic><topic>Pseudomonas Infections - complications</topic><topic>Retrospective Studies</topic><topic>Rhinitis - diagnostic imaging</topic><topic>Risk Factors</topic><topic>sinus CT</topic><topic>sinus radiography</topic><topic>sinusitis</topic><topic>Sinusitis - diagnostic imaging</topic><topic>Sweat - chemistry</topic><topic>Tomography, X-Ray Computed</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ferril, Geoffrey R.</creatorcontrib><creatorcontrib>Nick, Jerry A.</creatorcontrib><creatorcontrib>Getz, Anne E.</creatorcontrib><creatorcontrib>Barham, Henry P.</creatorcontrib><creatorcontrib>Saavedra, Milene T.</creatorcontrib><creatorcontrib>Taylor-Cousar, Jennifer L.</creatorcontrib><creatorcontrib>Nichols, David P.</creatorcontrib><creatorcontrib>Curran-Everett, Douglas</creatorcontrib><creatorcontrib>Kingdom, Todd T.</creatorcontrib><creatorcontrib>Ramakrishnan, Vijay R.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>International forum of allergy &amp; rhinology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ferril, Geoffrey R.</au><au>Nick, Jerry A.</au><au>Getz, Anne E.</au><au>Barham, Henry P.</au><au>Saavedra, Milene T.</au><au>Taylor-Cousar, Jennifer L.</au><au>Nichols, David P.</au><au>Curran-Everett, Douglas</au><au>Kingdom, Todd T.</au><au>Ramakrishnan, Vijay R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Comparison of radiographic and clinical characteristics of low-risk and high-risk cystic fibrosis genotypes</atitle><jtitle>International forum of allergy &amp; rhinology</jtitle><addtitle>Int Forum Allergy Rhinol</addtitle><date>2014-11</date><risdate>2014</risdate><volume>4</volume><issue>11</issue><spage>915</spage><epage>920</epage><pages>915-920</pages><issn>2042-6976</issn><eissn>2042-6984</eissn><abstract>Background Patients with cystic fibrosis (CF) exhibit a wide range of disease severity, and can be broadly stratified into high‐risk and low‐risk groups based on cystic fibrosis transmembrane conductance regulator (CFTR) mutation class. Patients with a low‐risk genotype are often diagnosed as adults, with milder disease and lower sweat chloride values. The aim of the current study was to better understand radiographic and clinical characteristics of sinus disease in adult CF patients within this risk category. Methods Adult CF patients were retrospectively compared to a control group of patients with chronic rhinosinusitis. CF diagnostic testing and pulmonary characteristics were compared between high‐risk and low‐risk CF groups, and sinus CT findings were compared among all 3 groups. Results When comparing CF cohorts (n = 25 and 30, respectively), earlier age at diagnosis (p &lt; 0.001), higher sweat chloride values (p &lt; 0.001), lower forced expiratory volume in 1 second (FEV1) values (p &lt; 0.001), and a higher prevalence of pulmonary infection with Pseudomonas aeruginosa (p = 0.001) were found in the high‐risk genotype group. A significantly increased incidence of sinus hypoplasia/aplasia and bony sclerosis was seen when comparing both CF groups to the control cohort (n = 30), as well as when comparing the high‐risk and low‐risk CF genotype cohorts. Conclusion The current study describes clinicopathologic findings of sinus disease in adult CF patients in the context of genotype severity. Our data demonstrate that while patients within a low‐risk genotype cohort have generally milder lung disease, they retain classic radiographic findings of CF sinus disease that can help raise the index of suspicion for undiagnosed CF.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>25224556</pmid><doi>10.1002/alr.21412</doi><tpages>6</tpages></addata></record>
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subjects Adult
Case-Control Studies
CFTR
Chlorides - metabolism
Chronic Disease
cystic fibrosis
Cystic Fibrosis - diagnostic imaging
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Female
Forced Expiratory Volume - physiology
Genotype
Humans
Male
Middle Aged
Mutation - genetics
Paranasal Sinuses - abnormalities
Paranasal Sinuses - diagnostic imaging
Pseudomonas aeruginosa
Pseudomonas Infections - complications
Retrospective Studies
Rhinitis - diagnostic imaging
Risk Factors
sinus CT
sinus radiography
sinusitis
Sinusitis - diagnostic imaging
Sweat - chemistry
Tomography, X-Ray Computed
title Comparison of radiographic and clinical characteristics of low-risk and high-risk cystic fibrosis genotypes
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