FIBROSE CISTICA PDF

A fibrose cística (FC), denominada também de mucoviscidose, é uma doença genética do tipo autossômica recessiva que acomete principalmente crianças e. O presente estudo examinou os desafios psicológicos de adolescentes com fibrose cística (FC) no Brasil, por meio de uma entrevista semiestruturada com. View at Google Scholar; L. F. O. Honório, N. Ludwig Neto, E. Barbosa et al., “ Avaliação da triagem neonatal para fibrose cística no estado de.

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To receive news and publication updates for International Journal of Otolaryngology, enter your email address in the box below. This is an open access cisica distributed under dibrose Creative Commons Attribution Licensewhich permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. There are still few publications about the characteristics of fibrocystic populations in developing countries.

The incidence of cystic fibrosis CF in Brazil varies among different regions 1: The prevalence of the DF mutation also varies according to population: Cough and nasal obstruction are the most common symptoms.

The variation in nasal polyposis prevalence may be explained by population genotypic characteristics in a country that spans a continent. Findings on nasal endoscopy and computed tomography CT have better correlation than do this information compared with surgical and clinical history. Microbiologic studies suggest a high level of early contamination of the airways. Sensorineural hearing loss SNHL occurs in these patients as a result of ototoxic antibiotics.

The data compiled in this paper is useful, but also lead to the general agreement that more research would be welcome due to the unique characteristics of this country. Cystic fibrosis CF is the most common inherited autosomal recessive disease among Caucasians [ 1 — 6 ]. It has a frequency of 1: In Brazil, the incidence is 1: The disease is caused by mutations in the gene encoding the cystic fibrosis transmembrane regulator protein CFTRmapped in the human chromosome at 7q This gene, described in [ 15 — 17 ], encodes a protein that acts as a chloride channel, and its dysfunction results in an abnormal transport of sodium and chloride through the apical membrane of epithelial cells of the upper aerodigestive tract and exocrine glands.

Abnormal flow of salt and water leads to dehydration of fluids of the exocrine glands and a change in the viscoelastic properties of mucins [ 561819 ]. Changing the composition and viscosity of mucus leads to dysfunctional mucociliary clearance and to obstruction of the paranasal sinus ostia, predisposing to local inflammation with consequent hypoxia and increased partial pressure of carbon dioxide.

This results in mucosal edema and greater compromising of ciliary function and favors bacterial colonization and infection, particularly by Staphylococcus aureus and Pseudomonas aeruginosa [ 3618 — 20 ].

International Journal of Otolaryngology

Nasal polyposis in CF patients was described for the first time in [ 21 ]. Its frequency varies in different populations and depends on the evaluative technique.

A compromised nasal sinus is believed to aggravate the pulmonary picture [ 20 ], and thus the participation of otolaryngologists to address this particular group of patients becomes very important.

Another important issue for the otolaryngologists in monitoring CF patients is their hearing. In spite of the low prevalence of middle ear disease cisttica these patients, there is in fact sensorineural hearing loss caused by ototoxic drugs.

Most articles on this subject are European or American, involving both children and adults with CF. There are still few publications about the characteristics of fibrocystic populations in developing countries and, in general, with small samples.

Cystic Fibrosis: Brazilian ENT Experience

In Brazil since when the first specific CF center was opened in Rio de Janeiro many centers have been developed. During the last decades more than 13 centers were created first in the southwest and south. Today more CF clinics are being recognized all over the country. As a result more national literature has been available, but there is still a need to better characterize CF patients with regard to rhinosinusitis.

There is great genetic heterogeneity as well as a wide range of mutations with large variety of clinical presentations observed, which may be explained by particular phenotypic characteristics in the Brazilian population and even populations of each region in the country, since Brazil has continental dimensions and represents a unique patient population given its European and American ancestry Table 1.

The purpose of this study is to gather data from the main Brazilian publications on otorhinolaryngological manifestations of CF patients and to compare with studies from other countries. One possible explanation for a low frequency of chronic sinonasal complains would be a matter of priority, being pulmonary and gastrointestinal problems prioritized by patients and family. Rhinorrhea was reported by only four patients.

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There is a great variety of endoscopic findings in CF patients and a trend toward increased incidence of diagnoses of nasal polyps over time. This may be explained by the increased survival rate of CF patients in developed countries, by selection of patients, by size of samples, by differences of age groups studied, and mainly by the most recent routine use of nasal endoscopy as a diagnostic technique [ 11920 ]. Other studies carried out in Brazil have also shown considerable variation in frequency of diagnosis of nasal polyps in CF patients.

Weber and Ferrari [ 26 ] found nasal polyps in Franche and coworkers [ 25 ] found only two out of 23 patients with bilateral nasal polyps in both cases. There is much genetic heterogeneity in CF, that is, a wide range of mutations with a great variety of clinical presentations.

Thus the variation found in related nasal polyposis may be explained by particular genotypic characteristics of populations from a country that spans a continent. We should also consider underdiagnosis of CF in Brazil and the premature deaths of patients with pulmonary complications and, maybe, those with associated nasal polyposis. In Brazil, the survival of CF patients is lower than that in developed countries where expectance of survival reaches In a Brazilian study conducted by Alvarez and colleagues [ 35 ], the mean age of survival for CF patients evaluated was 18 years and four months after diagnosis.

Among CF children and adolescents studied by Franco and coworkers [ 22 ], patients with nasal polyps had associated nasal secretions, identified using endoscopy, but endoscopy did not identify the presence of nasal polyps and symptoms such as cough, rhinorrhea, oral breathing, restless sleep, headache, and nasal obstruction.

That is, among Brazilian children with CF, the prevalence of polyps in younger children is quite high. Nasal polyps have been identified in a child as young as 8 months old; a differential diagnosis was made using computed tomography of the nose and paranasal sinuses [ 22 ]. Weber and Ferrari [ 26 ] did not find any association of gender, age, clinical severity, or genetic mutation with the presence of nasal polyposis.

The 14 children with nasal polyps evaluated in the study conducted by Franco and coworkers [ 22 ] had maximum scores, according to the Lund-Kennedy scoring system, and polyposis obliterans were not found. Weber and Ferrari [ 26 ] classified the polyposes according to the scale by Johansson and colleagues [ 36 ]: Using endoscopy, Franche and coworkers [ 25 ] found other significant endoscopic evidence in 23 CF patients. The inferior turbinate was hypertrophic in In 22 out of the 46 nasal cavities examined, the mucosa of the middle turbinate was normal in The relationship was statistically significant between hyperemia of mucosa of the middle turbinate and presence of nasal discharge, with positive culture of aspirate from the middle meatus for hyperemic mucosa and for nasal discharge.

Sinonasal polyposis in CF is classified as noneosinophilic sinonasal polyposis, according to the histopathological findings. To better understand the pathogenic mechanisms of nasal polyps in CF, several studies have tried to characterize the inflammatory microenvironment, cytokines, adhesion molecules, and ionic transport.

The reduction of INF-gama would be responsible for the presence of bacteria or bacterial LPS lipopolysaccharides in the intracellular medium. These bacteria stimulated production of IL4 by Th2 cells. The results would reflect intense inflammation with an increase in the eosinophilic cationic protein, total IgE, intermediated by the increase of IL4 and the low INF-gama [ 38 ].

Computed tomography CT has become a valuable tool for the diagnosis and monitoring of disorders of the upper airway in CF patients and is also essential in planning surgical cases, to study osseous structures.

Psicologia em Estudo

The Lund-Mackay classification of tomography staging [ 44 ] had an average score of The most affected sinus was the maxillary sinus, with In descending order, there was a higher incidence of involvement of the anterior ethmoid sinus Despite important changes on tomography, Boari and colleagues believe that sinonasal disease shown by CT does not seem to be directly related to surgical findings and that CT and nasal endoscopic examination present a higher percentage of positive correlation, while CT used with the medical history presented the lowest correlation.

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The same authors believe that based just on tomography there is probably an overestimation of diagnosis of sinonasal disease.

Kobayashi icstica colleagues compared the Lund-Mackay scores of tomography with various clinical aspects from patients in a referral center in the south of Brazil Rio Grande do Sul and found no statistical correlation [ 45 ]. They discussed that this score was not developed to analyze these disease, but anyway show at the ffibrose time the need for a specific tomography graduation system for CF patients and that image alterations in these patients should be really carefully evaluated as symptomatic and asymptomatic patients had similar results.

No statistically significant differences were found between findings on tomography and different genotypes or patient status of health. In this study, there was an association between the presence of medial bulging of the lateral nasal wall identified using endoscopy and using CT, with A condition described by Coste and colleagues [ 39 ], pseudomucocele is made evident cjstica CT scans specifically in patients with CF.

Published reports show controversy concerning terminology for this pathological entity of the sinuses, more studied since routine tomographic examinations became part of the evaluation of patients with CF. It is not a true epithelially walled cystic lesion but rather secretion surrounded by inflammatory tissue which follows the shape of the walls of the sinuses, with a tendency to expand [ 39 ]. Portes and colleagues [ 46 ] Sao Paulo reported a case of a child two years and one month old with chronic nasal obstruction since birth; CT showed opacification of the maxillary and ethmoid sinuses bilaterally and the formation of a cystic appearance with a halo of peripheral enhancement around the fibeose sinuses.

These cystic formations, pseudomucoceles, led to protrusion of the lateral nasal wall and narrowing of the nasal cavity. Pseudomucocele, therefore, may be considered a frequent manifestation found in studies of series of nasal manifestations in CF patients.

Diagnosis of mucoceles is commonly established using fihrose tomography CT of paranasal sinuses, which shows osseous erosion of the walls of paranasal sinuses, with smooth outward displacement. Upon magnetic resonance MRImucoceles will show variable signal intensities in both T1-and T2-weighted images.

In pediatric patients with CF and suspected mucocele, MRI is essential to help eliminate other entities such as meningocele, rhabdomyosarcoma, hemangioma, and neuroblastoma [ 48 ]. Only two Brazilian studies involving CF patients evaluated upper airways from a microbiological point of view. The Junh-Tym-Tap aspiration system and a rigid endoscope were used to collect material. There was a total of 42 aspirations. Out of 42 aspirations, Out of 11 positive aspirations two showed Pseudomonas cisitca both from the same patientthree showed Staphylococos aureustwo Haemophylus influenzaetwo Streptococcus penumoniaeand two Acinetobacter lwoffi.

Samples of sputum from all patients presented bacterial growth, No association was observed between the results of sputum cultures and results for aspirate from the middle meatus [ 24 ]. Sakano and coworkers [ 20 ], from Campinas Sao Cisyica Statecollected samples using a swab of the oropharynx, secretions gathered by maxillary antrostomy, and secretions gathered using endotracheal tubes, representing tracheal secretions from 50 CF patients.

The distribution of results of cultures from different sites maxillary sinus, trachea, and oropharynx was as seen in Table 1. The incidence of colonization by Pseudomonas aeruginosa and S. Simultaneous findings of P. The gene for CF is located in chromosome 7, at locus q31, formed by kilobases of DNA, with 27 exons. It encodes fistica mRNA of 6. The CFTR protein is essential for ionic transport through cellular membranes, being involved in regulating the flow of Cl, Na, and water [ 15 — 17 ].

One of the most important aspects of the current approach to CF is the great heterogeneity of the disease regarding its presentation, clinical course, and prognosis. Since the gene for CF was discovered, many hundreds of mutations have already been identified.

Alvarez and coworkers [ 35 ] genotyped A lower prevalence of this mutation is expected in populations with great fubrose diversity. Other mutations found by Alvarez and colleagues were Fibfose 4. In this study, no association was found between the genotype and the presence or severity of nasal polyposis [ 25 ].

The study conducted by Sakano and coworkers [ 20 ] researched the most frequent mutations in Brazil, dividing into three groups: