Adult Cystic Fibrosis Presenting with Nasal Polyposis and Chronic Sinusitis

1994 ◽  
Vol 8 (5) ◽  
pp. 237-240 ◽  
Author(s):  
Erica R. Thaler ◽  
Sean M. Smullen ◽  
David W. Kennedy
Keyword(s):  
Cystic Fibrosis ◽  
Nasal Polyposis ◽  
Chronic Sinusitis ◽  
Sweat Testing ◽  
General Aspects ◽  
Recurrent Nasal Polyposis

The diagnosis of cystic fibrosis is important to the otolaryngologist because of the association with chronic sinusitis and nasal polyposis. Eighty-five percent of patients are diagnosed under the age of 15, and diagnosis beyond age 20 is uncommon. We present two patients over 35 years of age in whom the diagnosis of cystic fibrosis was made during the course of workup and treatment for recurrent nasal polyposis and chronic sinusitis. To our knowledge, only one prior such case has been reported. This paper will provide a brief overview of the general aspects of the disease, discuss otolaryngic manifestations and management, and recommend indications for sweat testing in the adult.

Chronic Sinusitis and a Negative Sweat Test in a Patient with Cystic Fibrosis

1995 ◽  
Vol 9 (4) ◽  
pp. 225-228 ◽  
Author(s):  
Todd T Kingdom ◽  
Kelvin C. Lee ◽  
Gerd J. Cropp
Keyword(s):  
Cystic Fibrosis ◽  
Unusual Case ◽  
Dna Analysis ◽  
Chronic Sinusitis ◽  
Carrier State ◽  
Sweat Test ◽  
Genetic Mutations ◽  
Dna Mutation ◽  
Sweat Chloride ◽  
Sweat Testing

The diagnosis of cystic fibrosis (CF) is based on sweat chloride and DNA mutation testing. A subset of CF patients may have normal sweat chloride levels, thus requiring DNA analysis for confirmation of the diagnosis. These patients may escape diagnosis if sweat testing is the only modality used for screening. Recently, the putative structural gene for CF was localized to chromosome 7. The delta-F508 mutation accounts for approximately 70% of the CF chromosomes identified in North American Caucasians. Over 400 identified mutations constitute the remainder. It is now possible to screen patients for the presence of many of these genetic mutations, thus establishing the diagnosis of CF or defining a carrier state. We report an unusual case of a 17-year-old male with chronic sinusitis, mild pulmonary disease, and pancreatic sufficiency with nondiagnostic sweat chloride levels diagnosed to have CF after DNA analysis. This technique may thus serve as an important tool that pediatricians and otolaryngologists can use to diagnose children suspected of having CF.

scholarly journals Kartagener’s Syndrome Presenting As Bilateral Recurrent Nasal Polyposis In A Young Boy

2018 ◽  
Vol 08 (04) ◽  
pp. 274-277
Author(s):  
Zeba Ahmed ◽  
Warda Waseem ◽  
Uroosa Saman
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Nasal Polyposis ◽  
Chronic Sinusitis ◽  
Correct Diagnosis ◽  
Congenital Disease ◽  
Kartagener Syndrome ◽  
Kartagener's Syndrome ◽  
Ciliary Dyskinesia ◽  
Recurrent Nasal Polyposis

Kartagener's syndrome is a very rare congenital disease consists of a classic triad, sinusitis, situs inversus and bronchiectasis. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and Kartagener syndrome. We are presenting a case of Kartagener’s syndrome in a 10-year-old boy presented with chronic sinusitis leading to bilateral multiple nasal polyposis. He also had situs inversus and chronic bronchiectasis. He had undergone surgery two years back for nasal polyposis but now again presenting as recurrent nasal polyposis. In order to prevent the dreadful complications correct diagnosis in early life is very important in such patients.

Rhinosinusitis in the Pediatric Patient with Cystic Fibrosis

2014 ◽  
Vol 10 (3) ◽  
pp. 198-201 ◽  
Author(s):  
Christopher Fundakowski ◽  
Rosemary Ojo ◽  
Ramzi Younis
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Pediatric Patients ◽  
Surgical Intervention ◽  
Chronic Sinusitis ◽  
Genetic Disorder ◽  
Symptomatic Relief ◽  
Recurrence Rates ◽  
Polyp Recurrence ◽  
Sinonasal Polyposis

Cystic fibrosis (CF) is a common autosomal recessive genetic disorder where a deletion mutation and subsequent downstream alteration in transmembrane regulator proteins results in increased mucus viscosity. CF manifests clinically with chronic multisystem inflammation and recurrent infections. Nearly all children with CF have chronic sinusitis, and a large majority will have concurrent sinonasal polyposis. Chronic sinusitis and sinonasal polyposis in pediatric patients with CF can be managed conservatively initially, though most will fail medical management and require surgical intervention. Unfortunately, symptom resolution is marginal and polyp recurrence rates are high. Currently, no cure exists for CF and the mainstay of treatment is to provide symptomatic relief, and minimize disease morbidity.

Paranasal Sinus Development in Chronic Sinusitis, Cystic Fibrosis, and Normal Comparison Population: A Computerized Tomography Correlation Study

1997 ◽  
Vol 11 (4) ◽  
pp. 275-282 ◽  
Author(s):  
Hung Jeff Kim ◽  
Ellen M. Friedman ◽  
Marcelle Sulek ◽  
Newton O. Duncan ◽  
Charles McCluggage
Keyword(s):  
Cystic Fibrosis ◽  
Maxillary Sinus ◽  
Paranasal Sinus ◽  
Chronic Sinusitis ◽  
Correlation Study ◽  
Uncinate Process ◽  
Ct Scans ◽  
Lateral Nasal Wall ◽  
Transverse Diameter ◽  
Sinus Disease

Chronic sinus disease in patients with and without cystic fibrosis may have an impact on the pattern of paranasal sinus pneumatization. Arrest of pneumatization has been reported in both of these conditions. To assess the development of the paranasal sinuses in relationship to chronic sinusitis and cystic fibrosis (CF), a retrospective review of coronal CT scans of the age-matched patients with no previous sinus disease, patients with chronic sinusitis, and cystic fibrosis patients was conducted. The patients’ ages ranged from 4 to 17 years. The maxillary sinus volume, anteroposterior diameter, and greatest transverse diameter and height were determined using image analysis software after the coronal CT scans were scanned into Macintosh computer. The size of the maxillary sinus increased with advancing age in the control and chronic sinusitis group, but not in the patients with cystic fibrosis. The patients with cystic fibrosis had a statistically significant smaller maxillary sinus size. Approximately 50% of the patients with chronic sinusitis had anatomic anomalies, the most common being paradoxical middle turbinates. The CT scans of CF patients were characterized by uncinate process demineralization and medial displacement of the lateral nasal wall in the middle meatus, and decreased maxillary sinus pneumatization.

Cystic Fibrosis in Rhinologic Practice

2002 ◽  
Vol 16 (3) ◽  
pp. 155-160 ◽  
Author(s):  
Antoni Krzeski ◽  
Dorota Kapiszewska-Dzedzej ◽  
Norbert P. Górski ◽  
Iwona Jakubczyk
Keyword(s):  
Cystic Fibrosis ◽  
Nasal Polyposis ◽  
Mucociliary Clearance ◽  
Signs And Symptoms ◽  
Control Group ◽  
Lateral Nasal Wall ◽  
Bony Destruction ◽  
Radiological Changes ◽  
Inflammatory Changes ◽  
Maxillary Sinus Hypoplasia

Background Cystic fibrosis (CF) is the most common genetic lethal disorder that affects white populations. Chronic rhinosinusitis (CRS) with extensive nasal polyposis is one of the manifestations of CF. Methods The aim of this study was to determine the prevalence and extent of CRS in CF patients. Results The study indicated that the signs and symptoms of CRS were present in all patients with CF and they were more advanced than in the control group. The most severe inflammatory changes in the paranasal sinuses were detected in patients with the dF508 gene mutation type who suffered from CRS for >3 years. Conclusions Massive nasal polyposis, dilated base of the nose, mucociliary clearance impairment, and significant radiological changes (frontal and maxillary sinus hypoplasia, bony destruction, and medial bulging of the lateral nasal wall) were identified to be the characteristic signs of the CRS in CF patients.

Bacterial Pattern in Chronic Sinusitis and Cystic Fibrosis

2010 ◽  
Vol 143 (2_suppl) ◽  
pp. P125-P125
Author(s):  
Andres Godoy ◽  
Gloria Ribalta ◽  
Isabel Largo
Keyword(s):  
Cystic Fibrosis ◽  
Chronic Sinusitis

Sinonasal Surfactant Protein A1, A2, and D Gene Expression in Cystic Fibrosis: A Preliminary Report

2007 ◽  
Vol 137 (1) ◽  
pp. 34-38 ◽  
Author(s):  
Bradford A. Woodworth ◽  
Rachel Wood ◽  
John E. Baatz ◽  
Rodney J. Schlosser
Keyword(s):  
Gene Expression ◽  
Cystic Fibrosis ◽  
Nasal Polyposis ◽  
Quantitative Polymerase Chain Reaction ◽  
Surfactant Protein ◽  
Fungal Rhinosinusitis ◽  
Allergic Fungal Rhinosinusitis ◽  
Novel Treatment ◽  
Polymerase Chain

OBJECTIVE: To measure alterations in SPA1, A2, and D gene expression in various forms of inflammatory chronic rhinosinusitis (CRS). STUDY DESIGN AND SETTING: Sinus mucosal biopsies were performed in patients with allergic fungal rhinosinusitis (AFS), CRS with nasal polyposis, cystic fibrosis (CF), and controls. SP mRNA was measured with quantitative polymerase chain reaction. RESULTS: Patients with CF (n = 4) showed significantly increased SPA1 (82-fold), SPA2 (100-fold), and SPD (47-fold) mRNA ( P < 0.05) when compared with controls (n = 5). Patients with CRS with nasal polyposis (n = 5) also demonstrated elevated SPA1 (27-fold), SPA2 (13-fold), and SPD (13-fold). Patients with AFS (n = 7) had increased SPA1 (5-fold), SPA2 (9-fold), and SPD (17-fold), but were not statistically significant. CONCLUSION: SPA1, A2, and D are upregulated in various forms of CRS, but are significantly elevated in cystic fibrosis CRS. SIGNIFICANCE: Understanding the role of SPs in CRS will help develop novel treatment approaches for sinonasal pathoses.

scholarly journals Cystic Fibrosis in two Ghanaian Children

2021 ◽  
Vol 2 ◽  
pp. 167-170 ◽  
Author(s):  
Sandra Kwarteng Owusu ◽  
Gabrielle Obeng-Koranteng ◽  
Sandra Laryea Odai ◽  
Marie Charlyne Fatima Kilba ◽  
Parbie Abbeyquaye ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Testing ◽  
Severe Acute Malnutrition ◽  
Case Reports ◽  
African Descent ◽  
Genetic Disorder ◽  
Pancreatic Insufficiency ◽  
Acute Malnutrition ◽  
Diagnostic Tools ◽  
Sweat Testing

Cystic fibrosis (CF) is a severe life-limiting genetic disorder resulting from mutations in the cystic fibrosis transmembrane regulator gene and is reported to be more prevalent among Caucasians than people of African descent. The past three decades have seen a gradual increase in the reporting of CF in non-European populations with CF in all regions including Africa. We report on the first two known Ghanaian children diagnosed with CF presenting early in infancy. The first patient presented with severe acute malnutrition and persistent diarrhea resulting from severe exocrine pancreatic insufficiency. In the second patient, there were recurrent wheeze and recurrent pneumonia, severe dehydration with metabolic alkalosis. Diagnosis of CF in Ghana is challenging due to the absence of diagnostic tools such as sweat testing equipment. In the first patient, sweat testing and genetic testing were done in South Africa. In the second patient, sweat testing was not done but diagnosis was confirmed by genetic testing. Both patients presented with classical CF symptoms including Pseudomonas aeruginosa airway infection before age 6 months. Both children are currently alive and healthy on appropriate treatment. These case reports highlight the growing evidence of CF occurring in people of African descent and the diagnostic challenges faced in Africa.

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