Successful Treatment with Rituximab and Immunoadsorption for an Auto-Antibody Induced Bile Salt Export Pump Deficiency in a Liver Transplanted Patient.

We present an 8 years old girl who was diagnosed at 6 months of age of Progressive Familial Intrahepatic Cholestasis type 2. Although liver transplantation (LT) was classically considered curative for these patients, cholestasis recurrence with normal gamma-glutamyl transpeptidase (GGT), mediated by anti-bile salt export pump (BSEP) antibodies after LT (auto-antibody Induced BSEP Deficiency, AIBD) has been recently reported. Our patient underwent LT at 14 months. During her evolution, patient presented three episodes of acute rejection. Seven years after the LT, the patient presented pruritus with cholestasis and elevation of liver enzymes with persistent normal GGT. Liver biopsy showed intrahepatic cholestasis and giant-cell transformation with very low BSEP activity. Auto-antibodies against BSEP were detected therefore an AIBD was diagnosed. She was treated with Rituximab and immunoadsorption with resolution of the AIBD. As a complication of the treatment she developed a pneumocystis infection successfully treated with corticoids, cotrimoxazol and anidulafungin.

Combinación de ledipasvir/sofosbuvir como tratamiento de la infección crónica por hepatitis C / Ledipasvir/sofosbuvir combination for chronic hepatitis C infection in children and adolescents

Introducción: El objetivo del estudio fue evaluar la seguridad y la eficacia de la combinación de ledipasvir/sofosbuvir en la infección crónica por el genotipo 1 y 4 del virus de la hepatitis C (VHC) en pacientes pediátricos. Métodos: Se incluyó a pacientes de entre 6 y 18 años. La duración y la dosis de los fármacos antivirales se administraron según la edad del paciente, el estadio de fibrosis y los tratamientos previos con interferón pegilado y ribavirina. La variable principal de eficacia fue el porcentaje de pacientes con una respuesta virológica sostenida 12 semanas (RVS12) después del tratamiento. Resultados: Nueve pacientes con una mediana de edad de 14,8 años (8,48-17,91) fueron tratados con combinación de ledipasvir/sofosbuvir. Cinco pacientes habían recibido previamente tratamiento con interferón pegilado + ribavirina. Ocho pacientes tenían algún grado de fibrosis. La mediana de la carga viral previa al tratamiento fue de 6,2 log (5,9-6,8) con negativización del ARN del VHC 6 semanas después de comenzar el tratamiento en el 100% de los pacientes. Todos los pacientes mantuvieron una respuesta viral sostenida a las 12 semanas. Tres pacientes (33,3%) tuvieron algún tipo de efecto adverso (2 dolores de cabeza y un afta oral). La mediana de seguimiento posterior al tratamiento fue de 24 semanas (12-104). Conclusiones: El tratamiento con ledipasvir/sofosbuvir en pacientes pediátricos con infección crónica por VHC de genotipo 1 y 4 es seguro y efectivo con RVS12, similar a lo reportado en adultos

Introduction: Hepatitis C virus infection is world health problem. The aim of this study was to assess the safety and efficacy of ledipasvir/sofosbuvir combination in chronic Hepatitis C Virus (HCV) genotype 1 and 4 infection in paediatric patients. Methods: Eligible patients to be treated with ledipasvir/sofosbuvir were patients from 6 to 18 years old with a chronic HCV genotype 1 or 4 infection. The duration and doses of antiviral drugs were changed depending on patient age, fibrosis stage, and PEGylated interferon+ribavirin experience status. The primary efficacy endpoint was the percentage of patients with a sustained virological response 12 weeks post-treatment. Results: A total of nine patients (7 males) with a median age of 14.8 years (8.48-17.91) were treated with ledipasvir/sofosbuvir combination. Five patients received previous treatment with PEGylated interferon + ribavirin during a median of 8.5 months (3-12 months). Eight patients had some degree of fibrosis (1 patient presented with F1, three patients F2, 2 patients F3, and 2 patients F4). The median pre-treatment viral load was 6.2 Log [5.9-6.8] with the HCV RNA becoming negative six weeks after starting the treatment in 100% of the patients. All patients maintained a sustained viral response at 12 weeks. Three patients (33.3%) had some type of adverse effect (2 headache and one oral thrush). The median post-treatment follow-up was 24 weeks (12-104). Conclusions: Treatment with ledipasvir/sofosbuvir in paediatric patients with chronic HCV infection genotype 1 and 4 is safe and effective with SVR12 and similar to those reported in adults

[Ledipasvir/sofosbuvir combination for chronic hepatitis C infection in children and adolescents]. / Combinación de ledipasvir/sofosbuvir como tratamiento de la infección crónica por hepatitis C.

INTRODUCTION: Hepatitis C virus infection is world health problem. The aim of this study was to assess the safety and efficacy of ledipasvir/sofosbuvir combination in chronic Hepatitis C Virus (HCV) genotype 1 and 4 infection in paediatric patients. METHODS: Eligible patients to be treated with ledipasvir/sofosbuvir were patients from 6 to 18 years old with a chronic HCV genotype 1 or 4 infection. The duration and doses of antiviral drugs were changed depending on patient age, fibrosis stage, and PEGylated interferon+ribavirin experience status. The primary efficacy endpoint was the percentage of patients with a sustained virological response 12 weeks post-treatment. RESULTS: A total of nine patients (7 males) with a median age of 14.8 years (8.48-17.91) were treated with ledipasvir/sofosbuvir combination. Five patients received previous treatment with PEGylated interferon+ribavirin during a median of 8.5 months (3-12 months). Eight patients had some degree of fibrosis (1 patient presented with F1, three patients F2, 2 patients F3, and 2 patients F4). The median pre-treatment viral load was 6.2 Log [5.9-6.8] with the HCV RNA becoming negative six weeks after starting the treatment in 100% of the patients. All patients maintained a sustained viral response at 12 weeks. Three patients (33.3%) had some type of adverse effect (2 headache and one oral thrush). The median post-treatment follow-up was 24 weeks (12-104). CONCLUSIONS: Treatment with ledipasvir/sofosbuvir in paediatric patients with chronic HCV infection genotype 1 and 4 is safe and effective with SVR12 and similar to those reported in adults.

Poliposis adenomatosos familiar con transformación maligna en niños: presentación de casos

La poliposis adenomatosa familiar (PAF) y su variante, el Síndrome de Turcot, son heredados de forma autosómica dominante por mutaciones en el gen APC (adenomatous polyposis coli). Ocurre en aproximadamente 1/10000 a 1/30000 nacidos vivos y representa menos del 1% del riesgo de cáncer colorrectal en Estados Unidos. El cáncer colorrectal debe ser considerado una consecuencia inevitable de la evolución natural de la PAF. Sin embargo, en casos familiares se puede promover una detección temprana. Presentamos tres casos de pacientes con PAF con transformación maligna dos de ellos hermanos, uno de los cuales desarrolló síndrome de Turcot y el tercer caso diagnosticado por antecedente en la madre de PAF además de ser estudiada por anemia en clínica de hematología.

Familial adenomatous polyposis (FAP) and its variant Turcot's syndrome are autosomal dominant diseases caused by mutations in the adenomatous polyposis coli (APC) gene. FAP occurs in approximately 1/10,000 to 1/30,000 live births, and accounts for less than 1 percent of the total colon cancer risk in the United States. Colorectal cancer should be considered an inevitable consequence of the natural history of FAP, but an early detection is possible in familial cases. We present three cases of FAP patients with malignant transformation including two brothers, one of whom developed Turcot syndrome and the third case diagnosed in screening for a history of PAF and mother with a history of anemia studied in hematology clinic.