Nasal polyposis and cystic fibrosis: review of literature and case report

Use of the SNOT-22 and UPSIT to Appropriately Select Pediatric Patients With Cystic Fibrosis Who Should Be Referred to an Otolaryngologist

“…The reported prevalence of sinus disease among the pediatric population with CF is as high as 100% with radiology. 5 Nasal polyposis has been estimated to affect as many as 6% to 57% of children with CF, 5,6 whereas the estimated incidence of nasal polyps in the general pediatric population is reported to be 0.1% to 0.2%. 17,18 In our cohort, 54% presented with nasal polyps.…”

“…Hence, a number of studies that have investigated possible clinical predictors that may help physicians determine if children with CF should be referred to an otolaryngologist. [5][6][7]21 In our institution, like many, the otolaryngologist is not a part of the medical team that routinely assesses patients with CF during their scheduled visits. Several studies [5][6][7][8] suggested an association between the severity of nasal polyposis in patients with CF and ΔF508 homozygosity, suggesting that this genotype could be a potential risk factor for serious sinus disease.…”

“…3 Theoretic explanations for patients with CF underreporting their sinus symptoms include the early onset of CRS in childhood, causing a lack of awareness of a symptom-free state; or masking of their sinus symptoms by the severity of their other medical issues. 3,4 Despite limited subjective reporting of clinical symptoms, some studies [5][6][7][8] have demonstrated relationships between clinical indicators and the severity of sinus disease in these children. There has historically been limited interdisciplinary coordination between physicians who primarily treat patients with CF and otolaryngologists at our institution, owing to the relative underreporting of symptoms.…”

Variabilidad fenotípica de la fibrosis quística: reporte de 2 gemelos con la mutación F508/F508

“…La proteína CFTR es expresada en la membrana apical de las células que recubren el epitelio respiratorio, de los conductos pancreáticos, del sistema gastrointestinal, del tracto genitourinario y de las glándulas sudoríparas 2,3,10 . Esta localización explica las manifestaciones clínicas de la enfermedad, tales como malabsorción de nutrientes secundaria a insuficiencia pancreática, falla pulmonar severa, hiponatremia, pólipos nasales, prolapso rectal, pancreatitis, colelitiasis y diabetes 6,[11][12][13] . El diagnóstico Gold Standard basa principalmente en la medición de electrolitos en sudor mediante una prueba induciendo el sudor con pilocarpina, el test del sudor, sin embargo, ha mostrado ser más útil principalmente en tami-zaje, por lo que se ha planteado su reemplazo por el test de conductancia del sudor 14 .…”

Current views on chronic rhinosinusitis in patients with cystic fibrosis

“…При этом авто-ры пытались определить, влияют ли гетерозиготные мутации на предрасположенность пациентов к хро-ническому риносинуситу [16]. В одном исследова-нии изучалась ДНК пациентов с данной патологией и лиц контрольной группы [17].…”