Evaluación de la mutación a3243g en mtDNA, en familias de pacientes diagnosticados con el síndrome Melas Clinical characteristics of vesicoureteral Reflux in children at a University Hospital in Medellín, Colombia. 1960-2004.

• Main Authors: Andrés Ruiz, Gabriel Bedoya Berrío, José William Cornejo Ochoa, Luis Carlos Burgos Herrera, Victoria Parra
• Format: Article
• Language: Spanish
• Published: Universidad de Antioquia 2003-01-01
• Series: Iatreia
• Subjects: mtDNA; MELAS; A3243G; MUTACIÓN MITOCONDRIAL; HETEROPLASMIA
• Online Access: http://www.iatreia.udea.edu.co/index.php/iatreia/article/view/13

<p>Las citopatías mitocondriales constituyen un variado grupo de desórdenes generados por déficits de la producción de energía en la mitocondria (1), proceso llevado a cabo a través de cinco complejos multienzimáticos ubicados en la membrana interna mitocondrial. Las subunidades que conforman estos complejos son codificadas por genoma nuclear y mitocondrial (mtDNA). Hasta el momento se ha identificado un gran cantidad de citopatías causadas por mutaciones en mtDNA; la más frecuente es MELAS (Mitochondrial Encephalomyopathy with Lactic acidosis and Stroke-like episodes) (2), de ésta, el 80% de los casos poseen la mutación A3243G en el gen del tRNALeu (3). En dicha mutación se ha encontrado hasta un 95% de heteroplasmia (4), lo cual hace que la variación en el fenotipo<br />sea muy amplia.</p><p><br />En este trabajo se evaluó la mutación A3243G en pacientes con diagnóstico de MELAS así como a sus familiares.</p> A Total of 4.129 children with the diagnosis of urinary tract infection (UTI) were attended at Hospital Universitario San Vicente de Paúl in Medellín, Colombia, between 1960 and 2004. Vesicoureteral reflux (VUR), the commonest anomaly associated to UTI, was found in 1.309 children (31.7%) who presented 1.914 cases of affected renal units (605 patients had bilateral reflux). This is a descriptive, retrospective work, carried out with information registered at the pediatric nephrology service by one of the authors (VPE) on children younger than 17 years, with the diagnosis of VUR. The most important registered characteristics were reviewed, and the findings were as follows: 61.1% of children were women, 29.2% had the diagnosis of VUR made during the first year of life, and 41.4% had other associated anomalies; 72.4% of children had VUR of either III or IV grades, 53.8% had unilateral reflux, 23.8% had spontaneous resolution, and 36.1% required surgical correction. In 582 (44.5% out of 1.309) of these patients, studies for renal scarring were carried out, and it was found in 371 (63.7%); 2.3% had high blood pressure, 7.4% developed chronic renal failure; 0.9% received kidney transplantation, and 2.4% died. Our findings, similar to those reported by other authors, allow us to insist on the need for adequate management of children with VUR, because of the risk of developing high blood pressure and chronic renal failure. Better diagnostic systems for VUR and renal scarring, the progress of information diffusion, and the medical interest on this subject are opportunities for making earlier diagnoses, and opportune and proper treatment of these children.