Primary immunodeficiency diseases in Latin America: the second report of the LAGID registry.

This is the second report on the continuing efforts of LAGID to increase the recognition and registration of patients with primary immunodeficiency diseases in 12 Latin American countries: Argentina, Brazil, Chile, Colombia, Costa Rica, Honduras, Mexico, Panama, Paraguay, Peru, Uruguay, and Venezuela. This report reveals that from a total of 3321 patients registered, the most common form of primary immunodeficiency disease was predominantly antibody deficiency (53.2%) with IgA deficiency reported as the most frequent phenotype. This category was followed by 22.6% other well-defined ID syndromes, 9.5% combined T- and B-cell inmunodeficiency, 8.6% phagocytic disorders, 3.3% diseases of immune dysregulation, and 2.8% complement deficiencies. All countries that participated in the first publication in 1998 reported an increase in registered primary immunodeficiency cases, ranging between 10 and 80%. A comparison of the estimated minimal incidence of X-linked agammaglobulinemia, chronic granulomatous disease, and severe combined immunodeficiency between the first report and the present one shows an increase in the reporting of these diseases in all countries. In this report, the estimated minimal incidence of chronic granulomatous disease was between 0.72 and 1.26 cases per 100,000 births in Argentina, Chile, Costa Rica, and Uruguay and the incidence of severe combined immunodeficiency was 1.28 and 3.79 per 100,000 births in Chile and Costa Rica, respectively. However, these diseases are underreported in other participating countries. In addition to a better diagnosis of primary immunodeficiency diseases, more work on improving the registration of patients by each participating country and by countries that have not yet joined LAGID is still needed.

Arritmia cardíaca fetal antenatal: comunicación de un caso y revisión de la literatura / Fetal antenatal cardiac arrhytmia: report of a case and review of the literature

Se preasenta un caso de arritmia cardíaca fetal por extrasístoles, diagnosticada durante auscultación con estetoscopio de Pinard y, posteriormente, confirmada por ecocardiografía modo M. La literatura revisada reporta que la incidencia de extrasístoles fetales es de 1,7%, que pueden presentarse auscultatoriamente como ritmo irregular y como bradicardia cuando no son conducidas, que bajo la mayoría de las circunstancias son inocuas y han sido asociadas a acción de epinefrina; sin embargo, ha sido reportada coexistencia de cardiopatía congénita; la mayoría cesa antes del nacimiento. Su diagnóstico correcto evita cesárea innecesaria. Pueden producir taquicardia paroxística supraventricular (SVT), lo que constituye una verdadera emergencia médica, por lo que se requiere reevaluación ecocardiográfica semanal en su búsqueda y, de instalarse SVT, si el feto no está maduro, debe tratarse in útero y no realizar cesárea de entrada para evitar las dificultades inherentes al tratamiento de neonato inmaduro con arritmia, edema pulmonar, membrana hialiana e hidrops fetalis. La obtención, en el caso presentado, de bebé sano por parto normal post-inducción luego de haber alcanzado la madurez pulmonar, confirma que el ecocardiograma fetal modo M tipificó la arritmia y permitió pronosticar su evolución natural benigna, tranquilizando al obstetra, a la madre y al neonatólogo, por lo que estas patologías deben manejarse en equipo