RESUMEN

ABSTRACT: A case of low-γ-glutamyltranspetidase cholestasis associated with ubiquitin-specific peptidase 53 (USP53) gene mutation in a Brazilian child is described. Transient jaundice and hypocholia started at the age of 10 days. Liver enzymes, total bilirubin, and total bile acids were elevated at presentation. During follow-up, he developed cholelithiasis treated with cholecystectomy, and an intracranial hemorrhage resolved with full recovery. At last, evaluation at the age of 18 months, he was not jaundiced and had normal liver tests, but experienced from moderate pruritus despite treatment with rifampicin and ursodeoxycholic acid. A genetic study revealed novel homozygous mutations c.1687_1688delinsC p.Ser563Profs∗25 in the USP53 gene. His parents carried the same heterozygous mutation in the USP53 gene.

Asunto(s)

Colestasis Intrahepática , Colestasis , Brasil , Niño , Colestasis/genética , Humanos , Lactante , Masculino , Mutación , Proteasas Ubiquitina-Específicas/genética

RESUMEN

We describe a case of chronic hepatitis E virus (HEV) infection in a 13-year-old female liver transplant recipient with recurrent increased aminotransferase levels and acute cellular rejection. This finding demonstrates that chronic HEV infection can occur and should be further investigated in immunocompromised patients in Latin America.

Asunto(s)

Virus de la Hepatitis E/aislamiento & purificación , Hepatitis Crónica/diagnóstico , Trasplante de Hígado , Receptores de Trasplantes , Preescolar , Femenino , Rechazo de Injerto , Hepatitis Crónica/virología , Humanos , Huésped Inmunocomprometido , América Latina , Datos de Secuencia Molecular , ARN Viral/genética , Análisis de Secuencia de ADN , Transaminasas/sangre