RESUMO
PURPOSE: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by an inability of phagocytes to produce reactive oxygen species, impairing their killing of various bacteria and fungi. We summarize here the 93 cases of CGD diagnosed in Mexico from 2011 to 2019. METHODS: Thirteen Mexican hospitals participated in this study. We describe the genetic, immunological, and clinical features of the 93 CGD patients from 78 unrelated kindreds. RESULTS: Eighty-two of the patients (88%) were male. All patients developed bacterial infections and 30% suffered from some kind of fungal infection. Fifty-four BCG-vaccinated patients (58%) presented infectious complications of BCG vaccine. Tuberculosis occurred in 29%. Granulomas were found in 56% of the patients. Autoimmune and inflammatory diseases were present in 15% of patients. A biological diagnosis of CGD was made in 89/93 patients, on the basis of NBT assay (n = 6), DHR (n = 27), and NBT plus DHR (n = 56). The deficiency was complete in all patients. The median age of biological diagnosis was 17 months (range, 0-186 months). A genetic diagnosis was made in 83/93 patients (when material was available), corresponding to CYBB (n = 64), NCF1 (n = 7), NCF2 (n = 7), and CYBA (n = 5) mutations. CONCLUSIONS: The clinical manifestations in these Mexican CGD patients were similar to those in patients elsewhere. This cohort is the largest in Latin America. Mycobacterial infections are an important cause of morbidity in Mexico, as in other countries in which tuberculosis is endemic and infants are vaccinated with BCG. X-linked CGD accounted for most of the cases in Mexico, as in other Latin American countries. However, a significant number of CYBA and NCF2 mutations were identified, expanding the spectrum of known causal mutations.
Assuntos
Doença Granulomatosa Crônica/imunologia , Mutação/genética , Infecções por Mycobacterium/epidemiologia , Mycobacterium/fisiologia , NADPH Oxidase 2/genética , NADPH Oxidases/genética , Adolescente , Autoimunidade , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Genes Ligados ao Cromossomo X , Doença Granulomatosa Crônica/epidemiologia , Doença Granulomatosa Crônica/genética , Humanos , Lactente , Recém-Nascido , Inflamação , Masculino , México/epidemiologiaRESUMO
Currently, allergic disorders represent an important problem of public health. Besides having high prevalence they begin their clinical manifestations at early ages, in 75% of the cases before five years old. When they do not receive the proper treatment, they have systemic affectation, with a repercussion in the quality of life. The great comorbidity can cause a late and wrong diagnosis. In this article we review the relationship between hypoacusis and allergic rhinitis, with a description of their epidemiology, pathophysiology and clinical manifestations.
