RESUMO
Advances in molecular biology achieved during the last years have allowed us to know the genes involved in biliary secretion and the mutations capable of generating cholestasis. The mechanisms involved in forming bile and its circulation have been clarified. According to the biology of biliary secretion, we classify the genetic causes of cholestasis as follows: 1) transport abnormalities in canalicular or basolateral membranes, 2) alterations in intracellular vesicle transit, 3) increased paracellular permeability, 4) mutations in nuclear receptors, 5) cholangiopathies, and 6) hepatocellular diseases, due to disturbance of the function of intracellular organelles or errors of metabolism. This physiopathological classification of chronic cholestasis in childhood will facilitate pediatricians' diagnostic guidance and timely specialized referrals, as patients should receive early and appropriate treatment for its complications.
Los avances en biología molecular alcanzados durante los últimos años nos han permitido conocer los genes que intervienen en la secreción biliar y las mutaciones capaces de generar un cuadro de colestasis. Los mecanismos involucrados en la formación de la bilis y su circulación han sido precisados. De acuerdo a la biología de la secreción biliar, clasificamos las causas genéticas de colestasis en 1) anomalías del transporte en las membranas canalicular o basolateral, 2) alteraciones del tránsito de vesículas intracelulares, 3) aumento de la permeabilidad paracelular, 4) mutaciones en los receptores nucleares, 5) colangiopatías, 6) enfermedades hepatocelulares, por perturbación de la función de orgánulos intracelulares o errores del metabolismo. Esta clasificación fisiopatológica de las colestasis crónicas de la infancia facilitará la orientación diagnóstica de los pediatras y la derivación especializada oportuna, ya que los pacientes deben recibir tempranamente un tratamiento adecuado a las complicaciones de la colestasis.
RESUMO
La hepatitis autoinmunitaria es una enfermedad inflamatoria crónica del hígado caracterizada por una interacción compleja entre factores genéticos, respuesta inmunitaria a antígenos presentes en los hepatocitos y alteraciones de la regulación inmunitaria. Presenta una distribución global, con predominio en individuos de sexo femenino. Se clasifica en dos grupos, según el tipo de autoanticuerpos séricos detectados. La forma de presentación más frecuente es la hepatitis aguda (40 %), con síntomas inespecíficos, elevación de aminotransferasas e hipergammaglobulinemia. El tratamiento estándar consiste en la administración de fármacos inmunosupresores. Es una patología compleja, a veces difícil de diagnosticar. Si no se trata de manera adecuada, la mortalidad puede alcanzar el 75 % a los 5 años de evolución.
Autoimmune hepatitis (AIH) is a chronic inflammatory condition of the liver characterized by a complex interaction among genetic factors, immune response to antigens present in hepatocytes, and immune regulation alterations. Its distribution is global and there is a female predominance. AIH is divided into 2 groups, depending on the type of serum autoantibodies detected. The most common presentation is acute hepatitis (40%), with nonspecific symptoms, high aminotransferase levels, and hypergammaglobulinemia. Standard treatment consists of the administration of immunosuppressive drugs. It is a complex condition, often difficult to diagnose. If not managed adequately, the 5-year mortality rate may reach 75%.
Assuntos
Humanos , Criança , Hepatite Autoimune/diagnóstico , Hepatite Autoimune/terapia , Gastroenterologia , Autoanticorpos , América LatinaRESUMO
Autoimmune hepatitis (AIH) is a chronic inflammatory condition of the liver characterized by a complex interaction among genetic factors, immune response to antigens present in hepatocytes, and immune regulation alterations. Its distribution is global and there is a female predominance. AIH is divided into 2 groups, depending on the type of serum autoantibodies detected. The most common presentation is acute hepatitis (40%), with non-specific symptoms, high aminotransferase levels, and hypergammaglobulinemia. Standard treatment consists of the administration of immunosuppressive drugs. It is a complex condition, often difficult to diagnose. If not managed adequately, the 5-year mortality rate may reach 75%.
La hepatitis autoinmunitaria es una enfermedad inflamatoria crónica del hígado caracterizada por una interacción compleja entre factores genéticos, respuesta inmunitaria a antígenos presentes en los hepatocitos y alteraciones de la regulación inmunitaria. Presenta una distribución global, con predominio en individuos de sexo femenino. Se clasifica en dos grupos, según el tipo de autoanticuerpos séricos detectados. La forma de presentación más frecuente es la hepatitis aguda (40 %), con síntomas inespecíficos, elevación de aminotransferasas e hipergammaglobulinemia. El tratamiento estándar consiste en la administración de fármacos inmunosupresores. Es una patología compleja, a veces difícil de diagnosticar. Si no se trata de manera adecuada, la mortalidad puede alcanzar el 75 % a los 5 años de evolución.
Assuntos
Gastroenterologia , Hepatite Autoimune , Autoanticorpos , Criança , Feminino , Hepatite Autoimune/diagnóstico , Hepatite Autoimune/terapia , Humanos , América Latina , MasculinoRESUMO
La enfermedad hepática grasa no alcohólica pediátrica (EHGNA) es la causa más frecuente en niños y adolescentes de enfermedad hepática crónica que no puede ser atribuida a otras causas genéticas, infecciosas, tóxicas o nutricionales. Puede evolucionar desde una esteatosis simple hasta un cuadro de esteatohepatitis no alcohólica, y progresar a fibrosis avanzada, cirrosis y riesgo aumentado de carcinoma hepatocelular. Su tratamiento consiste en el cambio en el estilo de vida, mediante la promoción de la disminución de peso con la incorporación de una dieta saludable y el aumento de actividad física. Para lograr este objetivo, es fundamental el acompañamiento familiar. Estas medidas beneficiarán la calidad de vida física, psíquica y social de estos niños. El objetivo de esta comunicación es sensibilizar a la comunidad pediátrica acerca de la importancia del manejo de estos pacientes y su entorno familiar, comprometiéndose en la modificación de los factores de riesgo socioeconómicos, para lograr una mejor calidad de vida de las futuras generaciones.
Pediatric nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in children and adolescents that cannot be attributed to other genetic, infectious, toxic or nutritional causes. It can evolve from simple steatosis to nonalcoholic steatohepatitis, and can progress to advanced fibrosis, cirrhosis, and an increased risk of hepatocellular carcinoma. Its treatment consists of a change in lifestyle, promoting weight loss with the incorporation of a healthy diet and increased physical activity. To achieve this goal, family support is essential. These measures will benefit the physical, mental and social quality of life of these children. The objective of this communication is to sensitize the pediatric community about the importance of managing these patients and their family environment, committing to modifying socioeconomic risk factors, to achieve a better quality of life for future generations.
Assuntos
Humanos , Criança , Adolescente , Qualidade de Vida , Hepatopatia Gordurosa não Alcoólica/etiologia , Hepatopatia Gordurosa não Alcoólica/terapia , Obesidade , Papel do Médico , Cirrose HepáticaRESUMO
Pediatric nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in children and adolescents that cannot be attributed to other genetic, infectious, toxic or nutritional causes. It can evolve from simple steatosis to nonalcoholic steatohepatitis, and can progress to advanced fibrosis, cirrhosis, and an increased risk of hepatocellular carcinoma. Its treatment consists of a change in lifestyle, promoting weight loss with the incorporation of a healthy diet and increased physical activity. To achieve this goal, family support is essential. These measures will benefit the physical, mental and social quality of life of these children. The objective of this communication is to sensitize the pediatric community about the importance of managing these patients and their family environment, committing to modifying socioeconomic risk factors, to achieve a better quality of life for future generations.
La enfermedad hepática grasa no alcohólica pediátrica (EHGNA) es la causa más frecuente en niños y adolescentes de enfermedad hepática crónica que no puede ser atribuida a otras causas genéticas, infecciosas, tóxicas o nutricionales. Puede evolucionar desde una esteatosis simple hasta un cuadro de esteatohepatitis no alcohólica, y progresar a fibrosis avanzada, cirrosis y riesgo aumentado de carcinoma hepatocelular. Su tratamiento consiste en el cambio en el estilo de vida, mediante la promoción de la disminución de peso con la incorporación de una dieta saludable y el aumento de actividad física. Para lograr este objetivo, es fundamental el acompañamiento familiar. Estas medidas beneficiarán la calidad de vida física, psíquica y social de estos niños. El objetivo de esta comunicación es sensibilizar a la comunidad pediátrica acerca de la importancia del manejo de estos pacientes y su entorno familiar, comprometiéndose en la modificación de los factores de riesgo socioeconómicos, para lograr una mejor calidad de vida de las futuras generaciones.
Assuntos
Hepatopatia Gordurosa não Alcoólica , Qualidade de Vida , Adolescente , Criança , Humanos , Cirrose Hepática , Hepatopatia Gordurosa não Alcoólica/etiologia , Hepatopatia Gordurosa não Alcoólica/terapia , Obesidade , PediatrasRESUMO
La infección crónica con el virus C de la hepatitis constituye un problema de salud a nivel mundial, tanto en niños como en adultos. Su eliminación espontánea puede ocurrir durante la infancia temprana, y luego es infrecuente. Aunque la mayoría de los casos son asintomáticos en la infancia y adolescencia, al llegar a la edad adulta, los pacientes pueden evolucionar a la cirrosis y presentar complicaciones, que incluyen el carcinoma hepatocelular. Un tratamiento eficaz debe tener como meta la eliminación del virus, lo que significaría la curación de la enfermedad. Recientemente, el advenimiento de varios agentes antivirales de acción directa ha posibilitado una alta resolución de la infección, del 97-100 % de los casos. Para lograr este objetivo costo-efectivo, es fundamental la concientización de los pediatras en la detección de los pacientes infectados y su derivación al especialista hepatólogo pediatra para la implementación del tratamiento adecuado.
Chronic hepatitis C virus infection is a health problem worldwide, both in children and adults. Its spontaneous resolution may occur during early childhood, and then it becomes uncommon. Although most cases are asymptomatic during childhood and adolescence, as adults, patients may progress to cirrhosis and develop complications, including hepatocellular carcinoma. The goal of an effective treatment should be virus elimination, i.e., disease cure. Recently, the emergence of several direct-acting antivirals has enabled a high rate of infection resolution in 97-100 % of cases. To achieve this cost-effective objective, it is critical to raise awareness among pediatricians so that they can detect infected patients and refer them to a pediatric liver specialist for an adequate management.
Assuntos
Humanos , Masculino , Feminino , Gravidez , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Hepatite C/terapia , Hepatite C/transmissão , Antivirais/uso terapêutico , Hepatite C/etiologia , Transmissão Vertical de Doenças InfecciosasRESUMO
Chronic hepatitis C virus infection is a health problem worldwide, both in children and adults. Its spontaneous resolution may occur during early childhood, and then it becomes uncommon. Although most cases are asymptomatic during childhood and adolescence, as adults, patients may progress to cirrhosis and develop complications, including hepatocellular carcinoma. The goal of an effective treatment should be virus elimination, i.e., disease cure. Recently, the emergence of several direct-acting antivirals has enabled a high rate of infection resolution in 97-100 % of cases. To achieve this cost-effective objective, it is critical to raise awareness among pediatricians so that they can detect infected patients and refer them to a pediatric liver specialist for an adequate management.
La infección crónica con el virus C de la hepatitis constituye un problema de salud a nivel mundial, tanto en niños como en adultos. Su eliminación espontánea puede ocurrir durante la infancia temprana, y luego es infrecuente. Aunque la mayoría de los casos son asintomáticos en la infancia y adolescencia, al llegar a la edad adulta, los pacientes pueden evolucionar a la cirrosis y presentar complicaciones, que incluyen el carcinoma hepatocelular. Un tratamiento eficaz debe tener como meta la eliminación del virus, lo que significaría la curación de la enfermedad. Recientemente, el advenimiento de varios agentes antivirales de acción directa ha posibilitado una alta resolución de la infección, del 97-100 % de los casos. Para lograr este objetivo costo-efectivo, es fundamental la concientización de los pediatras en la detección de los pacientes infectados y su derivación al especialista hepatólogo pediatra para la implementación del tratamiento adecuado.
Assuntos
Carcinoma Hepatocelular , Hepatite C Crônica , Hepatite C , Neoplasias Hepáticas , Adolescente , Adulto , Antivirais/uso terapêutico , Carcinoma Hepatocelular/tratamento farmacológico , Criança , Pré-Escolar , Hepatite C/tratamento farmacológico , Hepatite C Crônica/tratamento farmacológico , Humanos , Neoplasias Hepáticas/tratamento farmacológicoRESUMO
La infección crónica con el virus B de la hepatitis es una de las enfermedades de mayor prevalencia mundial. Puede evolucionar a la cirrosis y carcinoma hepatocelular. La detección temprana, evitar la utilización de drogas intravenosas, la educación sexual y la vacunación son fundamentales para la prevención. La infección neonatal y durante el primer año de vida evoluciona hacia la cronicidad en más del 90 % de los niños. La transmisión vertical, de una madre con virus B de la hepatitis al recién nacido, es, actualmente, la forma más frecuente de infección. Su detección y la administración de inmunoglobulinas y vacuna disminuyen esta vía de infección. El tratamiento antiviral puede acelerar en dos o tres años el pasaje de la fase activa a la inactiva de la infección, sin influir en el proceso hacia la recuperación. El tratamiento oportuno de algunos casos elegidos puede evitar la progresión de la enfermedad
Chronic hepatitis B virus infection is one of the most prevalent diseases worldwide. It may progress to cirrhosis and hepatocellular carcinoma. An early detection, not using intravenous drugs, sex education, and immunization are critical for prevention. An infection in the neonatal period and in the first year of life becomes chronic in more than 90 % of children. Vertical transmission from a mother with hepatitis B virus to the newborn infant is currently the most common mode of transmission. Detection, immunoglobulin administration, and immunization help to reduce it. Antiviral therapy may accelerate the transition from the active to the inactive phase of infection by two or three years, without affecting the recovery process. A timely treatment of some selected cases may prevent hepatitis B progression.
Assuntos
Humanos , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Hepatite B Crônica/terapia , Pediatria , Transmissão de Doença Infecciosa , Progressão da Doença , Hepatite B CrônicaRESUMO
Chronic hepatitis B virus infection is one of the most prevalent diseases worldwide. It may progress to cirrhosis and hepatocellular carcinoma. An early detection, not using intravenous drugs, sex education, and immunization are critical for prevention. An infection in the neonatal period and in the first year of life becomes chronic in more than 90 % of children. Vertical transmission from a mother with hepatitis B virus to the newborn infant is currently the most common mode of transmission. Detection, immunoglobulin administration, and immunization help to reduce it. Antiviral therapy may accelerate the transition from the active to the inactive phase of infection by two or three years, without affecting the recovery process. A timely treatment of some selected cases may prevent hepatitis B progression.
La infección crónica con el virus B de la hepatitis es una de las enfermedades de mayor prevalencia mundial. Puede evolucionar a la cirrosis y carcinoma hepatocelular. La detección temprana, evitar la utilización de drogas intravenosas, la educación sexual y la vacunación son fundamentales para la prevención. La infección neonatal y durante el primer año de vida evoluciona hacia la cronicidad en más del 90 % de los niños. La transmisión vertical, de una madre con virus B de la hepatitis al recién nacido, es, actualmente, la forma más frecuente de infección. Su detección y la administración de inmunoglobulinas y vacuna disminuyen esta vía de infección. El tratamiento antiviral puede acelerar en dos o tres años el pasaje de la fase activa a la inactiva de la infección, sin influir en el proceso hacia la recuperación. El tratamiento oportuno de algunos casos elegidos puede evitar la progresión de la enfermedad.
Assuntos
Hepatite B Crônica , Hepatite B , Pediatria , Antivirais/uso terapêutico , Criança , Hepatite B/tratamento farmacológico , Hepatite B/transmissão , Hepatite B Crônica/tratamento farmacológico , Hepatite B Crônica/prevenção & controle , Humanos , Lactente , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas/prevenção & controle , Cirrose HepáticaRESUMO
OBJECTIVE: The aim of this study was to find the outcome and adverse effects of 2 initial treatments in children with autoimmune hepatitis, prednisone (PRED) plus azathioprine (AZA) versus cyclosporine (CsA). STUDY DESIGN: Between December 2008 and February 2012, 50 consecutive patients were centrally randomized to 1 of 2 treatment arms. Group 1: PRED was indicated at a dose of 1 to 2âmgâ·âkgâ·âday (up to 60âmg/day) and AZA at a dose of 1 to 2âmgâ·âkgâ·âday. Group 2: CsA was administered at a dose of 4âmgâ·âkgâ·âday orally divided into 2 doses. After remission, all patients were given a combination of PRED at 0.3 to 0.5âmgâ·âkgâ·âday and AZA at 1 to 2âmgâ·âkgâ·âday. Children presenting liver failure were placed on a triple immunosuppressive regimen if this condition persisted after 1 week of treatment, after liver function normalization they were switched back to their initial scheme. RESULTS: A total of 26 patients received PRED-AZA and 24 CsA. Both treatments showed similar initial results in effectiveness and safety, although remission was achieved earlier with PRED-AZA: 8.6 versus CsA: 13.6 weeks (Pâ<â0.0081). All children recovered liver function in a mean time of 32â±â26 days. Cushingoid syndrome was more frequently observed with PRED-AZA (Pâ<â0.001) and gingival hypertrophy with CsA (Pâ<â0.001). A significant increase in body mass index was observed in all patients from initial treatment to remission, being greater with PRED-AZA. CONCLUSIONS: Similar outcomes were obtained with PRED plus AZA or CsA treatments. Either therapeutic strategy could be used according to the particular characteristics of each patient. Triple immunosuppression was beneficial in patients with liver failure at onset.
Assuntos
Azatioprina , Hepatite Autoimune , Azatioprina/uso terapêutico , Criança , Ciclosporina/uso terapêutico , Quimioterapia Combinada , Rejeição de Enxerto , Hepatite Autoimune/tratamento farmacológico , Humanos , Imunossupressores/efeitos adversos , PrednisonaRESUMO
OBJECTIVE: This position paper written by the Hepatitis Expert Team of the Federation of International Societies of Pediatric Gastroenterology, Hepatology, and Nutrition aimed to systematically evaluate clinical practice guidelines (CPGs), medical consensus, and position papers on the use of direct-acting antivirals (DAA) to treat chronic hepatitis C virus (HCV) infection in adolescents and children in order to compare recommendations and provide the basis for developing a unified position statement. METHODS: MEDLINE, Cochrane-Library, National Guideline Clearinghouse and select websites of relevant societies/organizations were used to identify CPGs, medical consensus and position papers between 2011-2019. RESULTS: A total of 5 documents were analysed: 3 CPGs, 1 medical consensus, and 1 position paper. All publications were consistent in recommending DAA treatment for adolescents (12-17 years old) with chronic HCV infection. Similarly, all of these publications consistently recommended deferring therapy for children between 3 and 11 years of age until DAA became available as standard of care. Finally, none of the included publications recommended treating children younger than 3 years old. By contrast, there was significant discrepancy across the retrieved documents regarding specific DAA regimens and treatment strategies. CONCLUSIONS: There is strong consensus on treating all adolescents with chronic HCV infection with DAA and on delaying therapy in younger children until these agents are approved for them. Interferon-based therapies should be avoided. Specific recommendations regarding which DAA regimen to use and treatment duration varied significantly. Key stakeholders need to convene to standardize therapeutic strategies at a global level if we are to eradicate HCV in children.
Assuntos
Gastroenterologia , Hepatite C Crônica , Adolescente , Antivirais/uso terapêutico , Criança , Pré-Escolar , Quimioterapia Combinada , Hepatite C Crônica/tratamento farmacológico , HumanosRESUMO
OBJECTIVE: Mother-to-infant transmission (MIT) is the leading cause of hepatitis B virus (HBV) infections globally. The aim of this international study was to assess the impediments to prevention of (MIT) of HBV. METHODS: A cross-sectional survey was developed by the Federation of the International Societies for Pediatric Gastroenterology, Hepatology and Nutrition. (FISPGHAN) The survey was sent to HBV experts of the 5-member societies of FISPGHAN, and 63 of 91 countries/regions responded. Main outcome measures include percentage of countries having vaccine programs, timing of the first dose of HBV vaccine, availability of HBV vaccine for outborn neonates, payment of HBV vaccine and hepatitis B immune globulin, screening HBV markers during pregnancy, and antivirals to highly infectious pregnant mothers. RESULTS: Among the participating countries/regions, 11% did not implement infant HBV immunization programs. The first dose of vaccine was given >24âhours in 36% of the total countries and 100% of African countries. The recommended birth dose was unavailable for outborn neonates in 45% of the total countries, including 92% of African and 50% of Latin American countries/regions. During pregnancy, 44% countries do not screen maternal viral markers, and 46% do not provide third trimester antiviral therapy for highly viremic pregnant mothers. CONCLUSIONS: Our study demonstrated multiple obstacles to achieving the goal of preventing MIT of HBV. Comprehensive public health programs to enhance vaccine coverage rate, supply HBV vaccine for out-born neonates, screening maternal HBV markers, treating highly viremic pregnant mothers are proposed to overcome these obstacles and achieve the goal of preventing MIT of HBV.
Assuntos
Vacinas contra Hepatite B/administração & dosagem , Hepatite B/prevenção & controle , Transmissão Vertical de Doenças Infecciosas/prevenção & controle , Estudos Transversais , Feminino , Saúde Global , Hepatite B/epidemiologia , Hepatite B/imunologia , Hepatite B/transmissão , Vacinas contra Hepatite B/economia , Vacinas contra Hepatite B/imunologia , Vírus da Hepatite B/imunologia , Humanos , Programas de Imunização/economia , Programas de Imunização/estatística & dados numéricos , Lactente , Recém-Nascido , Programas de Rastreamento/estatística & dados numéricos , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/imunologia , Complicações Infecciosas na Gravidez/virologia , Sociedades Médicas , Inquéritos e Questionários , Cobertura Vacinal/estatística & dados numéricosRESUMO
Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the List of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhea, chronic malnutrition, and hemophagocytic lymphohistiocytosis. It should also be considered in young patients with dyslipidemia and atherosclerosis as well as diseases associated with fatty liver and/or hepatomegaly. LAL-D should be suspected in patients with hepatomegaly, hyperlipidemia and /or elevated transaminases found during routine checks or testing for other conditions, and in patients with cryptogenic cirrhosis. At present, there is the option of a specific enzyme replacement treatment.
La deficiencia de lipasa ácida lisosomal es una enfermedad genética aún poco reconocida, con significativa morbimortalidad en niños y en adultos. Esta guía orienta sobre cuándo sospechar la enfermedady cómo diagnosticarla. Serecomienda agregar la deficiencia de lipasa ácida lisosomal a la lista de diagnósticos diferenciales de las sepsis, enfermedades oncológicas, enfermedades de depósito, diarrea prolongada y desnutrición crónica y linfohistiocitosis hemofagocítica. Asimismo, se sugiere considerarla en pacientes jóvenes con dislipemia y arterioesclerosis y en enfermedades que ocurran con hígado graso y/o hepatomegalia. La hepatomegalia, hiperlipidemia y/o elevación de las transaminasas en ocasión de controles de rutina o de otras afecciones deberían hacer sospechar la deficiencia de lipasa ácida lisosomal, al igual que en pacientes con cirrosis criptogénica. Hoy existe la opción de un tratamiento de remplazo enzimático específico.
Assuntos
Doença de Wolman/diagnóstico , Doença de Wolman/terapia , Adolescente , Adulto , Criança , Pré-Escolar , Dislipidemias/etiologia , Humanos , Lactente , Recém-Nascido , Hepatopatias/etiologia , Doença de Wolman/complicações , Doença de WolmanRESUMO
La insuficiencia hepática aguda durante el período neonatal es una enfermedad rara, muy grave, con elevada mortalidad. Se diferencia clínica y etiológicamente de la insuficiencia hepática aguda del niño mayor y del adulto. La coagulopatía, con un Rango Internacional Normatizado > 3, es el parámetro fundamental para definirla. Las causas más frecuentes son la hepatitis fetal aloinmune, previamente denominada hemocromatosis neonatal, las infecciones virales, las enfermedades metabólicas y la linfohistiocitosis hemofagocítica. Existe un grupo de enfermedades tratables que es necesario diagnosticar con mucha rapidez para brindarles el tratamiento correspondiente. El paciente debe ser derivado precozmente a un centro especializado con disponibilidad de trasplante hepático pediátrico para poder darle esta alternativa terapéutica cuando esté indicada.
Neonatal acute liver failure is a rare, very severe disease with a high rate of mortality. It is clinically and etiologically different from acute liver failure seen in older children and adults. Coagulopathy with an international normalized ratio > 3 is the critical parameter that defines it. The most common causes are fetal alloimmune hepatitis, previously called neonatal hemochromatosis, viral infections, metabolic disorders, and hemophagocytic lymphohistiocytosis. There is a group of treatable diseases that require a very early diagnosis for the prescription of an adequate treatment. Patients should be immediately referred to a specialized facility where pediatric liver transplantation is available to implement such therapeutic alternative, if indicated.
Assuntos
Humanos , Recém-Nascido , Falência Hepática Aguda/diagnóstico , Falência Hepática Aguda/etiologia , Doenças MetabólicasRESUMO
Neonatal acute liver failure is a rare, very severe disease with a high rate of mortality. It is clinically and etiologically different from acute liver failure seen in older children and adults. Coagulopathy with an international normalized ratio ≥ 3 is the critical parameter that defines it. The most common causes are fetal alloimmune hepatitis, previously called neonatal hemochromatosis, viral infections, metabolic disorders, and hemophagocytic lymphohistiocytosis. There is a group of treatable diseases that require a very early diagnosis for the prescription of an adequate treatment. Patients should be immediately referred to a specialized facility where pediatric liver transplantation is available to implement such therapeutic alternative, if indicated.
La insuficiencia hepática aguda durante el período neonatal es una enfermedad rara, muy grave, con elevada mortalidad. Se diferencia clínica y etiológicamente de la insuficiencia hepática aguda del niño mayor y del adulto. La coagulopatía, con un Rango Internacional normatizado ≥ 3, es el parámetro fundamental para definirla. Las causas más frecuentes son la hepatitis fetal aloinmune, previamente denominada hemocromatosis neonatal, las infecciones virales, las enfermedades metabólicas y la linfohistiocitosis hemofagocítica. Existe un grupo de enfermedades tratables que es necesario diagnosticar con mucha rapidez para brindarles el tratamiento correspondiente. El paciente debe ser derivado precozmente a un centro especializado con disponibilidad de trasplante hepático pediátrico para poder darle esta alternativa terapéutica cuando esté indicada.
Assuntos
Falência Hepática Aguda/diagnóstico , Humanos , Recém-Nascido , Falência Hepática Aguda/etiologia , Doenças MetabólicasRESUMO
OBJECTIVES: The aim of the study was to describe the 5-year follow-up of children who received peginterferon and ribavirin in a global, open-label study. METHODS: A 5-year follow-up study of 107 children and adolescents ages 3 to 17 years with chronic hepatitis C virus infection who received peginterferon and ribavirin for 24 or 48 weeks. No drugs were administered during follow-up. RESULTS: Ninety-four patients were enrolled in the long-term follow-up portion of the study; the median duration of follow-up was 287 weeks (range, 73-339). Of 63 patients with sustained virologic response who were enrolled, 54 completed 5 years of follow-up; none had relapse in the 5-year follow-up period. Significant decreases in height z scores were observed during treatment. The effect of treatment on height z score was larger in patients treated for 48 weeks compared with those treated for 24 weeks (mean change from baseline to the end of treatment was -0.13 [Pâ<â0.001] and -0.44 [Pâ<â0.001] in the 24- and 48-week treatment groups, respectively). Among patients treated for 24 weeks, full recovery of height z scores to baseline was observed by 1 year of follow-up, whereas only partial recovery was observed during 5 years of follow-up in patients treated for 48 weeks (mean change from baseline to the final follow-up visit was -0.16 (Pâ=âNS) and -0.32 (Pâ<â0.05) in the 24- and 48-week treatment groups, respectively). Similar patterns were observed for weight and body mass index z scores. CONCLUSIONS: Impairment of growth should be considered when assessing the risk-benefit profile of peginterferon/ribavirin therapy in children with hepatitis C virus infection. In deciding to treat children with chronic hepatitis C virus, considerations should include both deferring treatment in patients during optimal growth periods, and the possibility that interferon-free regimens may be available to children in the next 5 to 10 years.
Assuntos
Antivirais/efeitos adversos , Estatura/efeitos dos fármacos , Transtornos do Crescimento/etiologia , Hepacivirus , Hepatite C Crônica/tratamento farmacológico , Interferon-alfa/efeitos adversos , Ribavirina/efeitos adversos , Adolescente , Antivirais/uso terapêutico , Índice de Massa Corporal , Peso Corporal/efeitos dos fármacos , Criança , Pré-Escolar , Quimioterapia Combinada , Feminino , Seguimentos , Transtornos do Crescimento/prevenção & controle , Hepacivirus/efeitos dos fármacos , Hepatite C Crônica/virologia , Humanos , Interferon-alfa/farmacologia , Interferon-alfa/uso terapêutico , Masculino , Polietilenoglicóis , Proteínas Recombinantes/efeitos adversos , Proteínas Recombinantes/farmacologia , Proteínas Recombinantes/uso terapêutico , Ribavirina/farmacologia , Ribavirina/uso terapêuticoRESUMO
Non-alcoholic fatty liver disease is considered one of the most common causes of liver disease in adults and children, consistent with the increased prevalence of obesity in both populations worldwide. It is a multifactorial condition involving a broad spectrum of liver diseases than range from simple steatosis to steatohepatitis, and characterized by histological findings of inflammation and fibrosis. Its pathogenesis and progression are not fully understood yet, and a more complete understanding of liver disease may aid in developing new therapies and noninvasive diagnostic tools. Liver biopsy remains the gold standard for disease staging. Although lifestyle and diet modifications are the keys in non-alcoholic fatty liver disease treatment, the development of new drugs may be promising for patients failing first-line therapy.
La enfermedad hepática grasa no alcohólica es considerada una de las causas más frecuentes de enfermedad hepática en adultos y niños, lo que coincide con el aumento de la prevalencia de obesidad en ambas poblaciones, en el mundo. Es una enfermedad multifactorial que involucra un amplio espectro de afecciones hepáticas, que van desde la esteatosis simple hasta la esteatohepatitis, caracterizada por hallazgos histopatológicos de inflamación y fibrosis. La patogenia y la progresión están aún incompletamente comprendidas y un conocimiento más cabal de ellas podrá contribuir al desarrollo de pruebas diagnósticas no invasivas y nuevas terapéuticas. La biopsia hepática representa el patrón para el diagnóstico de la fase evolutiva. Aunque las modificaciones del estilo de vida constituyen el objetivo central del tratamiento, el desarrollo de nuevos agentes farmacológicos podría ser promisorio para pacientes que no responden a la terapia de primera línea.
Assuntos
Hepatopatia Gordurosa não Alcoólica/epidemiologia , Algoritmos , Criança , Feminino , Humanos , Masculino , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Hepatopatia Gordurosa não Alcoólica/terapiaRESUMO
Pediatric acute liver failure is a syndrome ofsevere and sudden dysfunction of the hepatocytes which produces a failure in synthetic and detoxifyingfunction. It is an infrequent and severe disease butpotentiallyfatal, occurring in children with no prior history of liver disease. Etiology is related to the age and geographic region of the patient, recognizing the origin: metabolic, infectious, drug exposure, autoinmune, vascular and oncologic. Indeterminate cause where all the etiological search is negative, can range between 18 and 47%, depending on the center and access to the realization of etiological studies. The process which determines the liver injury is still not well known and is considered multifactorial. Essentially, it depends on host susceptibility, the cause and severity of the damage and the ability of liver regeneration. The clinical presentation depends on the etiology, which usually begins with an episode ofacute hepatitis, that in the following days or weeks presents unfavorable outcome, deepening jaundice, affecting the general state and presenting severe coagulopathy that characterizes the syndrome. The treatment consists of general measures which take into account the metabolic disorders, nutritional aspect, and the prevention and treatment of all complications that occur in the evolutionary course (infectious, neurological, etc). Besides it is also vital to implement the specific treatment of those diseases which can benefit from it (alloimmune hepatitis, galactosemia, tyrosinemia, herpes simplex infection, Wilson's disease, etc.). However, despite therapeutic advances, acute liver failure results in death or liver transplantation in over 45% ofcases.
Assuntos
Falência Hepática Aguda , Criança , Gastroenterologia , Humanos , Lactente , Recém-Nascido , América Latina , Falência Hepática Aguda/diagnóstico , Falência Hepática Aguda/etiologia , Falência Hepática Aguda/terapia , Transplante de Fígado , Plasmaferese , Prognóstico , Índice de Gravidade de Doença , Sociedades MédicasRESUMO
La atresia biliar es una grave enfermedad que se manifiesta en los recién nacidos, y se desconoce su causa. La inflamación y destrucción progresiva de los conductos biliares conducen a la aparición de ictericia, coluria y acolia entre la segunda y sexta semana de vida. Como existen múltiples causas de colestasis neonatal en esta etapa de la vida, es necesario realizar un diagnóstico y derivación precoz para ofrecer un tratamiento quirúrgico, con el fin de restablecer el flujo biliar. Alrededor del 80% de los pacientes normalizan la bilirrubina luego de la portoenterostomía (operación de Kasai), realizada antes de los 45 días de vida. Si la operación fracasa, el trasplante hepático surge como única alternativa. La atresia biliar debe diagnosticarse durante el primer mes de vida y ser considerada una urgencia quirúrgica.
Biliary atresia is a serious disease of unknown cause, affecting newborns. An inflammation and progressive destruction of the bile ducts lead to jaundice, dark urines, and acholia, between the second and sixth weeks of life. Neonatal cholestasis could be due to several different diseases, thus a diagnosis of biliary atresia and early derivation for surgical treatment are necessary to allow a restoration of the bile flow. Eighty percent of the children normalize serum bilirubin after the portoenterostomy (Kasai operation), if they are operated before their 45 days of life. When Kasai operation fails, a liver transplantation is the only possibility. Biliary atresia must be diagnosed before the first month of life and must be considered as a surgical emergency.
Assuntos
Humanos , Criança , Atresia Biliar/cirurgia , Atresia Biliar/complicações , Atresia Biliar/diagnóstico , Atresia Biliar/etiologia , Índice de Gravidade de DoençaRESUMO
Biliary atresia is a serious disease of unknown cause, affecting newborns. An inflammation and progressive destruction of the bile ducts lead to jaundice, dark urines, and acholia, between the second and sixth weeks of life. Neonatal cholestasis could be due to several different diseases, thus a diagnosis of biliary atresia and early derivation for surgical treatment are necessary to allow a restoration of the bile flow. Eighty percent of the children normalize serum bilirubin after the portoenterostomy (Kasai operation), if they are operated before their 45 days of life. When Kasai operation fails, a liver transplantation is the only possibility. Biliary atresia must be diagnosed before the first month of life and must be considered as a surgical emergency.