RESUMEN
We report three novel CFTR missense mutations detected in Spanish patients from Galicia (North West of Spain). In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. In the other two cases, both heterozygous for novel mutations combined with the F508del mutation, clinical symptoms were different depending on the mutation, detected as M595I and A107V.
Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/genética , Mutación Missense/genética , Adolescente , Adulto , Fibrosis Quística/complicaciones , Fibrosis Quística/patología , Exones/genética , Femenino , Humanos , Masculino , EspañaRESUMEN
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Asunto(s)
Femenino , Adulto , Humanos , Neoplasias Pulmonares/diagnóstico , Linfangioleiomiomatosis/diagnóstico , Disnea/etiologíaAsunto(s)
Enfisema Pulmonar/congénito , Enfisema Pulmonar/terapia , Sistema de Registros/estadística & datos numéricos , Deficiencia de alfa 1-Antitripsina/congénito , Deficiencia de alfa 1-Antitripsina/terapia , Adulto , Anciano , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Neumonectomía , Enfisema Pulmonar/genética , Fumar/efectos adversos , España , alfa 1-Antitripsina/uso terapéutico , Deficiencia de alfa 1-Antitripsina/genéticaRESUMEN
Severe alpha-1-antitrypsin (AAT) deficiency, phenotype Pi ZZ, is a rare condition with an estimated prevalence of 1/4500 individuals in Spain. Given this low prevalence, it seems useful to accumulate all the information derived from the care of these patients. In this context, the Spanish Registry of patients with AAT deficiency was founded in 1993; its main objectives were to establish guidelines adapted to our country for the treatment and management of AAT-deficient patients, offer expert support to physicians all over the country treating these patients, and provide technical support on the determination of Pi phenotyping and genotyping of individuals suspected of being AAT-deficient. From 1993 to January 1998 the number of enrollees increased from 48 to 223, of which 216 were Pi ZZ. Seventy-three per cent were male and only 31.5% were never smokers, mean age was 46 years (SD = 13 years) and mean FEV1 53% predicted (SD = 31%). 83% were index cases who, compared with non-index cases, were older (49 +/- 11 vs. 35 +/- 13 years, P < 0.001), more likely to have a smoking history (85% vs. 47%, P < 0.01) and displayed more severe impairment in pulmonary function (FEV1% = 40% +/- 19% vs. 96% +/- 23%, P < 0.001). Augmentation therapy was administered to 129 patients (58%). Treated patients had more severe impairment in pulmonary function than the untreated (FEV1% = 40% +/- 21% vs. 72% +/- 32%, P < 0.001) and were more likely to be index cases (81% vs. 43%, P < 0.001). Characteristics of the patients included are similar to those described for other Registries. The Registry has extended knowledge of the disease throughout the country and has established local guidelines for treatment and follow-up. It may be a valid database for future co-operation in international initiatives.
Asunto(s)
Sistema de Registros/estadística & datos numéricos , Deficiencia de alfa 1-Antitripsina/epidemiología , Adulto , Bases de Datos Factuales , Femenino , Volumen Espiratorio Forzado , Genotipo , Humanos , Pulmón/fisiopatología , Masculino , Persona de Mediana Edad , Fenotipo , Prevalencia , Fumar/fisiopatología , España/epidemiología , alfa 1-Antitripsina/uso terapéutico , Deficiencia de alfa 1-Antitripsina/tratamiento farmacológico , Deficiencia de alfa 1-Antitripsina/fisiopatologíaRESUMEN
A 48-year-old woman hospitalized because of spontaneous pneumothorax. She suffered dyspnea since three years before. Diffuse reticulonodular interstitial pattern was observed in the radiography. The transbronchial biopsy suggested lymphangioleiomyomatosis, the diagnosis being supported by open pulmonary biopsy. Usefulness of transbronchial biopsy is discussed and several treatment modalities are described.