RESUMEN
OBJECTIVES: To characterize the clinical phenotypes and genotypic spectrum of cystic fibrosis (CF) in Chinese children. STUDY DESIGN: We recruited and characterized the phenotypes of 21 Chinese children with CF. All 27 exons and their flanking sequences of the CF transmembrane conductance regulator gene were amplified and sequenced to define the genotypes. RESULTS: Bronchiectasis (95.2%) and sinusitis (76.2%) were the most common clinical presentations among our patients. By contrast, pancreatic insufficiency was rare (14.3%). The predominant organism found in the airways was Pseudomonas aeruginosa (66.7%). There were obvious reductions of forced expiratory volume in the first second (mean ± SD: 71.8% ± 17.2% predicted) and forced expiratory flows at 75% of exhaled vital capacity (33.7% ± 20.4% predicted) in children with CF. Overall, we identified 22 different mutations, including 12 missense, 5 nonsense, 2 frameshift, 1 in-frame insertion, 1 splice site, and 1 3'untranslated region mutation. Of these, 7 were novel observations (W216X[780GâA], 1092insA, Q359X, D567Y, 2623-126TâC, 3439delA and 4575+110CâG), and the most common types were L88X and I556V. One de novo mutation (1092insA) was also revealed. Except for N1303K and R334W, none of them were present in the common Caucasian CF transmembrane conductance regulator mutation-screening panels. CONCLUSIONS: There was a 5.7-year delay between the first clinical presentation and the eventual CF diagnosis, suggesting that CF may be underdiagnosed in China. The clinical phenotypes and genotypic spectrum are different from that observed in Caucasians.
Asunto(s)
Fibrosis Quística/diagnóstico , Fibrosis Quística/genética , Regiones no Traducidas 3' , Adolescente , Pueblo Asiatico/genética , Aspergilosis Broncopulmonar Alérgica/diagnóstico , Aspergilosis Broncopulmonar Alérgica/etnología , Aspergilosis Broncopulmonar Alérgica/genética , Bronquiectasia/diagnóstico , Bronquiectasia/genética , Niño , China , Fibrosis Quística/etnología , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Insuficiencia Pancreática Exocrina/diagnóstico , Insuficiencia Pancreática Exocrina/etnología , Insuficiencia Pancreática Exocrina/genética , Exones , Femenino , Volumen Espiratorio Forzado , Genotipo , Humanos , Masculino , Mutación , Fenotipo , Pseudomonas aeruginosa , Sinusitis/diagnóstico , Sinusitis/genética , SudorRESUMEN
Two siblings with pansinusitis, nasal polyps, and bronchiectasis were found to have histocompatibility lymphocyte antigen (HLA) class I antigen deficiency ("bare lymphocyte syndrome") and dysfunction of natural killer cells. Reduced class I cell surface expression resulted from a single mutation in the TAP2 gene, which is located in the class II region of the major histocompatibility complex and encodes subunit 2 of the class I peptide transporter. The defect was transmitted in an autosomal recessive manner. This deficiency did not lead to severe viral infections but was apparently associated with susceptibility to bacterial infections of the respiratory mucosae. We suggest that class I HLA typing should be systematically performed in children with unexplained bronchiectasis.
Asunto(s)
Bronquiectasia/genética , Antígenos HLA/genética , Mutagénesis , Adolescente , Bronquiectasia/complicaciones , Proteínas Portadoras , Niño , ADN Complementario , Femenino , Genes MHC Clase I , Humanos , Células Asesinas Naturales , Complejo Mayor de Histocompatibilidad , Masculino , Pólipos Nasales/complicaciones , Mutación Puntual , Inmunodeficiencia Combinada Grave , Sinusitis/complicacionesAsunto(s)
Cilios/ultraestructura , Trastornos de la Motilidad Ciliar/patología , Enfermedades en Gemelos , Anomalías Múltiples/genética , Adulto , Bronquiectasia/genética , Trastornos de la Motilidad Ciliar/genética , Seno Frontal/anomalías , Humanos , Masculino , Seno Maxilar , Oligospermia/genética , Sinusitis/etiologíaRESUMEN
o presente trabalho tem como objetivo a revisão dos principais tópicos relativos à bronquiectasia,desde o conceito até o tratamento,enfocando etiologia,patogenia,tipos,manifestações clinicas,diagnóstico,tratamento,complicações e prognóstico