RESUMEN
INTRODUCCIÓN: La enfermedad isquémica cardiaca es la pri-mera causa de muerte a nivel mundial. A pesar de no tener estadísticas certeras, Amé-rica Latina incurre en la tendencia de un au-mento en la mortalidad por enfermedad car-diovascular; una de las probables causas es la rápida urbanización que ha sido asociada a mayor exposición de riesgo cardiovas-cular1. Es sabido que la única medida efec-tiva para preservar la función ventricular y disminuir la mortalidad, reinfarto y acci-dente cerebrovascular es la apertura rápida de la arteria culpada para reestablecer el flujo coronario2.
INTRODUCTION: Ischemic heart disease is the leading cause of death worldwide. Despite not having ac-curate statistics, Latin America incurs the trend of an increase in mortality from car-diovascular disease; one of the probable causes is rapid urbanization that has been associated with greater exposure to car-diovascular risk1. It is known that the only effective measure to preserve ventricular function and reduce mortality, reinfarction and stroke is the rapid opening of the culprit artery to reestablish coronary flow2.
Asunto(s)
Humanos , Masculino , Femenino , Anciano , Dolor en el Pecho , Isquemia Miocárdica , Enfermedad Coronaria , Síndrome Coronario Agudo , Oclusión Coronaria , Infarto del Miocardio , Cardiología , Reperfusión Miocárdica , Mortalidad , Administración del Tratamiento Farmacológico , Infarto del Miocardio con Elevación del ST , CorazónRESUMEN
The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-ß-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining Mg2+ homeostasis. Among these CNNMs, CNNM2 is expressed in the basolateral membrane of the kidney tubules where it is involved in Mg2+ reabsorption. A total of four patients, two of them with a suspected disorder of calcium metabolism, and two patients with a clinical diagnosis of primary tubulopathy were screened for mutations by Next-Generation Sequencing (NGS). We found one novel likely pathogenic variant in the heterozygous state (c.2384C>A; p.(Ser795*)) in the CNNM2 gene in a family with a suspected disorder of calcium metabolism. In this family, hypomagnesemia was indirectly discovered. Moreover, we observed three novel variants of uncertain significance in heterozygous state in the other three patients (c.557G>C; p.(Ser186Thr), c.778A>T; p.(Ile260Phe), and c.1003G>A; p.(Asp335Asn)). Our study shows the utility of Next-Generation Sequencing in unravelling the genetic origin of rare diseases. In clinical practice, serum Mg2+ should be determined in calcium and PTH-related disorders.
Asunto(s)
Proteínas de Transporte de Catión/genética , Magnesio/sangre , Defectos Congénitos del Transporte Tubular Renal/diagnóstico , Adolescente , Adulto , Proteínas de Transporte de Catión/química , Codón sin Sentido , Femenino , Heterocigoto , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Masculino , Polimorfismo de Nucleótido Simple , Defectos Congénitos del Transporte Tubular Renal/genética , Análisis de Secuencia de ADNRESUMEN
El Síndrome urémico hemolítico (SUH) tiene formas típicas y atípicas. Se describe una variedad de formas genéticas con pobre pronóstico. Presentamos un bebé prematuro de 36 semanas, de bajo peso al nacer, quien a las 2 semanas de vida cursó con sepsis y necrosis intestinal siendo sometido a cirugía para realizarle ileostomía. Evolucionó con hipertensión arterial, hematuria, falla renal aguda y proteinuria persistente. A los 2 meses de vida, posterior al cierre de ileostomía, cursó con shock séptico y falleció. La biopsia renal post mortem mostró cuadro compatible de SUH. Dos años después, un hermano debutó a los 2 días de vida con síndrome nefrótico congénito. El estudio genético reveló que la madre era portadora del gen NPHS1 y el padre, del Factor I de complemento. El segundo hijo era portador de ambos genes.
Hemolytic Uremic Syndrome (HUS) has typical and atypical presentations. A variety of genetic forms, with poor prognosis are described. We report a 36 week premature baby, low birth weight, who at 2 weeks of life evolved with sepsis and intestinal necrosis undergoing surgery for ileostomy, hypertension, hematuria, acute renal failure and persistent proteinuria. At 2 months, after ileostomy closure, developed irreversible septic shock and died. Postmortem renal biopsy was compatible with HUS. Two years later, a brother presented after 2 days of birth with congenital nephrotic syndrome. Genetic studies revealed that the mother was carrying the gene NPHS1 and the father, factor I of complement. The second child was a carrier of both genes.
