ABSTRACT
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%.
Subject(s)
Humans , Child , Hepatitis, Autoimmune/diagnosis , Hepatitis, Autoimmune/therapy , Gastroenterology , Autoantibodies , Latin AmericaABSTRACT
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.
Subject(s)
Gastroenterology , Hepatitis, Autoimmune , Autoantibodies , Child , Female , Hepatitis, Autoimmune/diagnosis , Hepatitis, Autoimmune/therapy , Humans , Latin America , MaleABSTRACT
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.
Subject(s)
Non-alcoholic Fatty Liver Disease/epidemiology , Algorithms , Child , Female , Humans , Male , Non-alcoholic Fatty Liver Disease/diagnosis , Non-alcoholic Fatty Liver Disease/therapyABSTRACT
BACKGROUND: Single-dose hepatitis A virus (HAV) vaccination was implemented in all Argentinean children 12 months of age in 2005. Previous studies demonstrated high prevalence of protective antibody response 4 years after single-dose vaccination. This study assessed long-term seroprotection against HAV after vaccination. METHODS: Children who received 1 dose of HAV vaccine at 1 year of age at least 6 years before enrollment were included at 5 centers in Argentina between 2013 and 2014. Demographic and socioeconomic characteristics were collected through a questionnaire. Blood samples were tested for anti-HAV antibodies. Antibody values ≥10 mIU/mL were considered seroprotective. Logistic regression analysis was performed to evaluate the association between demographic and socioeconomic variables and seroprotection. RESULTS: A total of 1088 children were included, with a median postvaccination interval of 7.7 years (range 6.3-9.2 years). Of these children, 97.4% (95% confidence interval: 96.3%-98.3%) had protective antibodies against HAV. No association between demographic or socioeconomic variables and seroprotection was found. Geometric mean concentration of antibody levels against HAV was 170.5 mUI/mL (95% confidence interval: 163.2-178.2 mUI/mL). CONCLUSIONS: Single-dose universal hepatitis A immunization in 1-year-old children resulted in sustained immunologic protection for up to 9 years in Argentina. These findings, along with the low current disease burden, confirm the success of the intervention.
Subject(s)
Hepatitis A Antibodies/blood , Hepatitis A Vaccines/immunology , Hepatitis A virus/immunology , Hepatitis A/prevention & control , Argentina , Child , Female , Follow-Up Studies , Hepatitis A Vaccines/administration & dosage , Humans , Infant , Male , PrevalenceABSTRACT
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.
Subject(s)
Liver Failure, Acute , Child , Gastroenterology , Humans , Infant , Infant, Newborn , Latin America , Liver Failure, Acute/diagnosis , Liver Failure, Acute/etiology , Liver Failure, Acute/therapy , Liver Transplantation , Plasmapheresis , Prognosis , Severity of Illness Index , Societies, MedicalABSTRACT
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.
Subject(s)
Humans , Child , Biliary Atresia/surgery , Biliary Atresia/complications , Biliary Atresia/diagnosis , Biliary Atresia/etiology , Severity of Illness IndexABSTRACT
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.
Subject(s)
Biliary Atresia , Biliary Atresia/complications , Biliary Atresia/diagnosis , Biliary Atresia/etiology , Biliary Atresia/surgery , Child , Humans , Severity of Illness IndexABSTRACT
BACKGROUND: After a country wide outbreak occurred during 2003-2004, 1 dose of hepatitis A vaccine was introduced into Argentinian regular immunization schedule for all children aged 12 months in June 2005. The aim of this study was to assess the impact of this novel intervention. METHODS: A longitudinal analysis was done of hepatitis A virus (HAV) infection rates reported to the National Epidemiological Surveillance System from 2000 to 2011. Occurrence of fulminant hepatic failure (FHF) and liver transplantation cases up to 2011 were also assessed. Incidence rates and clinical impact were compared between pre- and postvaccination periods (2000-2002 vs. 2006-2011). Notification rates were also compared by age groups and geographical regions. RESULTS: Since 2006, an abrupt decline was observed in HAV infection rates, as well as in FHF and liver transplantation cases. The mean incidence rate of 7.9/100,000 in the postvaccination period represents a reduction of 88.1% (P < 0.001) when compared with the prevaccination period. Neither FHF nor liver transplantation due to HAV infection were observed since March 2007. Decline in incidence rates was evident in all geographical regions and all age groups but was higher in the prevaccination most affected areas and in young children. Although an absolute decrease was observed for cases and rates in all age groups, since 2006, a higher proportion of cases was observed in people >14 years of age. CONCLUSIONS: The single-dose vaccination strategy has been highly effective for controlling HAV infection in all age groups till now in Argentina. Long-term surveillance will be critical to document the sustained success of this unique intervention.
Subject(s)
Hepatitis A Vaccines/administration & dosage , Hepatitis A/epidemiology , Hepatitis A/prevention & control , Adolescent , Adult , Argentina/epidemiology , Child , Child, Preschool , Humans , Incidence , Infant , Longitudinal Studies , Middle Aged , Young AdultABSTRACT
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.
ABSTRACT
Hepatitis A (HA) presents a benign evolution, but occasionally some patients develop a more severe disease. Previously to 2005 hepatitis A was an important cause of acute liver failure (ALF) and hepatic transplant. In 2003, a consensus in the Argentinian Pediatrics Society was done; it had just recommended the inclusion of the vaccine in the mandatory immunisation schedule. This was issued by the Health Ministery, and was applied on June 1st, 2005. The schedule was one dose at the age of one year of age. Since then, an important reduction of HA was registered, without any case of ALF since 2006. Follow-up studies so far showed low viral circulation and persistence of antibodies to 5 years later.
Subject(s)
Hepatitis A Vaccines , Hepatitis A/prevention & control , Immunization Schedule , Adolescent , Adult , Argentina/epidemiology , Child , Child, Preschool , Hepatitis A/epidemiology , Humans , Infant , Middle Aged , Time Factors , Young AdultABSTRACT
La hepatitis A (HA) presenta una evolución benigna, pero en ocasiones puede causar una insuficiencia hepática aguda con necesidad de trasplante. En 2003, en un consenso realizado en la Sociedad Argentina de Pediatría, se recomendó la incorporación de la vacuna contra la HA en el calendario nacional. Esto se concretó por decreto ministerial y se efectivizó a partir del 1 de junio de 2005, con la obligación de aplicar una dosis de la vacuna a todos los niños al año de edad. Desde entonces, se registró una disminución marcada de casos y no se documentaron cuadros de insuficiencia hepática aguda desde el año 2006. Los estudios de seguimiento mostraron, hasta el momento, una circulación viral baja y la persistencia de anticuerpos hasta los 5 años posteriores a su introducción.
Hepatitis A (HA) presents a benign evolution, but occasionally some patients develop a more severe disease. Previously to 2005 hepatitis A was an important cause of acute liver failure (ALF) and hepatic transplant. In 2003, a consensus in the Argentinian Pediatrics Society was done; it had just recommended the inclusion of the vaccine in the mandatory immunisation schedule. This was issued by the Health Ministery, and was applied on June 1st, 2005. The schedule was one dose at the age of one year of age. Since then, an important reduction of HA was registered, without any case of ALF since 2006. Follow-up studies so far showed low viral circulation and persistence of antibodies to 5 years later.
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Humans , Infant , Middle Aged , Young Adult , Hepatitis A Vaccines , Hepatitis A/prevention & control , Immunization Schedule , Argentina/epidemiology , Hepatitis A/epidemiology , Time FactorsABSTRACT
La hepatitis A (HA) presenta una evolución benigna, pero en ocasiones puede causar una insuficiencia hepática aguda con necesidad de trasplante. En 2003, en un consenso realizado en la Sociedad Argentina de Pediatría, se recomendó la incorporación de la vacuna contra la HA en el calendario nacional. Esto se concretó por decreto ministerial y se efectivizó a partir del 1 de junio de 2005, con la obligación de aplicar una dosis de la vacuna a todos los niños al año de edad. Desde entonces, se registró una disminución marcada de casos y no se documentaron cuadros de insuficiencia hepática aguda desde el año 2006. Los estudios de seguimiento mostraron, hasta el momento, una circulación viral baja y la persistencia de anticuerpos hasta los 5 años posteriores a su introducción.(AU)
Hepatitis A (HA) presents a benign evolution, but occasionally some patients develop a more severe disease. Previously to 2005 hepatitis A was an important cause of acute liver failure (ALF) and hepatic transplant. In 2003, a consensus in the Argentinian Pediatrics Society was done; it had just recommended the inclusion of the vaccine in the mandatory immunisation schedule. This was issued by the Health Ministery, and was applied on June 1st, 2005. The schedule was one dose at the age of one year of age. Since then, an important reduction of HA was registered, without any case of ALF since 2006. Follow-up studies so far showed low viral circulation and persistence of antibodies to 5 years later.(AU)
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Humans , Infant , Middle Aged , Young Adult , Hepatitis A Vaccines , Hepatitis A/prevention & control , Immunization Schedule , Argentina/epidemiology , Hepatitis A/epidemiology , Time FactorsABSTRACT
The objective of this study was to identify, by early screening, one-month old infants with acholic or hypocholic stools for the early detection of biliary atresia and other causes of neonatal cholestasis. The study was essentially exploratory (observational, prospective, statistically underpowered and with no clinical intervention) and used a color card screening of all newborns attending the first month of life checkup from 1999 to 2002 in a public hospital in Argentina. Of 12 484 newborn infants, 4239 were examined at their first month of life checkup visit with the stool color card. Eighteen infants were identified with hypocholic stools, of whom only four were proven to have cholestasis. Although no case of biliary atresia was detected, screening by stool color cards proved useful for the detection of other causes of neonatal cholestasis.
El objetivo del presente estudio fue identificar, mediante el tamizaje precoz, a los lactantes de un mes de edad con deposiciones acólicas o hipocólicas, para la detección temprana de la atresia biliar y otras causas de colestasis neonatal. El estudio fue esencialmente exploratorio (observacional, prospectivo, sin potencia estadística y sin intervención clínica experimental), usando un método de tamizaje de las heces con tarjetas colorimétricas en todos los recién nacidos atendidos en el control de salud del primer mes durante el período 1999- 2002 en un hospital público de la Argentina. De los 12 484 recién nacidos, 4239 fueron atendidos en la visita del primer mes con la tarjeta colorimétrica. Se identificaron 18 niños con deposiciones hipocólicas, de los cuales solo 4 demostraron tener enfermedad colestásica. Si bien no se identificó ningún caso de atresia biliar, la prueba de tamizaje mostró ser de utilidad para la detección de otras causas de colestasis neonatal.
ABSTRACT
Hepatitis A (HA) presents a benign evolution, but occasionally some patients develop a more severe disease. Previously to 2005 hepatitis A was an important cause of acute liver failure (ALF) and hepatic transplant. In 2003, a consensus in the Argentinian Pediatrics Society was done; it had just recommended the inclusion of the vaccine in the mandatory immunisation schedule. This was issued by the Health Ministery, and was applied on June 1st, 2005. The schedule was one dose at the age of one year of age. Since then, an important reduction of HA was registered, without any case of ALF since 2006. Follow-up studies so far showed low viral circulation and persistence of antibodies to 5 years later.
Subject(s)
Hepatitis A Vaccines , Hepatitis A/prevention & control , Immunization Schedule , Adolescent , Adult , Argentina/epidemiology , Child , Child, Preschool , Hepatitis A/epidemiology , Humans , Infant , Middle Aged , Time Factors , Young AdultABSTRACT
MATERIAL AND METHODS: With the aim of analyzing the influence of presence of cirrhosis at baseline on the outcome, we revised the evolution of a cohort of patients with type 1 autoimmune hepatitis, prospectively followed at a single hospital. 139 patients (113 females, 26 males), median age 45.7 years, interquartile range 13-59 years, were followed-up for a median period of 58 months (interquartile range 27-106). RESULTS: At baseline, 55 patients had cirrhosis and they were significantly older, had lower prothrombin activity and serum albumin than patients without cirrhosis. In contrast, patients without cirrhosis had significantly higher bilirubin, AST and ALT levels at diagnosis time. There was no significant difference in the follow-up time between patients with and without cirrhosis at baseline and either in the percentage of patients receiving immunosupresor treatment (80 vs. 91%, respectively) or in the response to therapy (complete response in 82 vs. 95%, respectively). However, patients with cirrhosis had a significantly lower probability of remaining free of cirrhosis complications (49.1% at 102 months, 95%CI, 35.5-67.9% vs. 86.7%, 95%CI, 77.1%-97.5%, respectively) (p = 0.0000) and a significantly lower overall survival at 120 months (67.1%, 95%CI, 51.3-87.6 vs. 94.4%, 95%CI, 86.9-100%, respectively) (p = 0.003) than those without cirrhosis at presentation. CONCLUSION: Patients with type 1 autoimmune hepatitis and cirrhosis at presentation have a lower survival than those without cirrhosis despite a similar response to treatment.
Subject(s)
Hepatitis, Autoimmune/drug therapy , Hepatitis, Autoimmune/mortality , Immunosuppressive Agents/therapeutic use , Liver Cirrhosis/complications , Adolescent , Adult , Biopsy , Cohort Studies , Disease Progression , Female , Follow-Up Studies , Humans , Liver/pathology , Liver Cirrhosis/pathology , Male , Middle Aged , Prospective Studies , Retrospective Studies , Survival Rate , Treatment Outcome , Young AdultABSTRACT
BACKGROUND: While the Northern Hemisphere experiences the effects of the 2009 pandemic influenza A (H1N1) virus, data from the recent influenza season in the Southern Hemisphere can provide important information on the burden of disease in children. METHODS: We conducted a retrospective case series involving children with acute infection of the lower respiratory tract or fever in whom 2009 H1N1 influenza was diagnosed on reverse-transcriptase polymerase-chain-reaction assay and who were admitted to one of six pediatric hospitals serving a catchment area of 1.2 million children. We compared rates of admission and death with those among age-matched children who had been infected with seasonal influenza strains in previous years. RESULTS: Between May and July 2009, a total of 251 children were hospitalized with 2009 H1N1 influenza. Rates of hospitalization were double those for seasonal influenza in 2008. Of the children who were hospitalized, 47 (19%) were admitted to an intensive care unit, 42 (17%) required mechanical ventilation, and 13 (5%) died. The overall rate of death was 1.1 per 100,000 children, as compared with 0.1 per 100,000 children for seasonal influenza in 2007. (No pediatric deaths associated with seasonal influenza were reported in 2008.) Most deaths were caused by refractory hypoxemia in infants under 1 year of age (death rate, 7.6 per 100,000). CONCLUSIONS: Pandemic 2009 H1N1 influenza was associated with pediatric death rates that were 10 times the rates for seasonal influenza in previous years.
Subject(s)
Disease Outbreaks , Hospitalization/statistics & numerical data , Influenza A Virus, H1N1 Subtype , Influenza, Human/epidemiology , Adolescent , Age Distribution , Argentina/epidemiology , Child , Child, Preschool , Comorbidity , Female , Humans , Hypoxia/etiology , Hypoxia/mortality , Infant , Infant, Newborn , Influenza, Human/classification , Influenza, Human/complications , Influenza, Human/mortality , Male , Pneumonia, Bacterial/epidemiology , Pneumonia, Bacterial/etiology , Severity of Illness Index , Staphylococcus/isolation & purification , Streptococcus pneumoniae/isolation & purificationSubject(s)
Child Welfare , Health Care Reform , Maternal Welfare , Pediatrics , Primary Health Care , Child , HumansABSTRACT
OBJECTIVES: To evaluate the effectiveness of cyclosporine in inducing and maintaining remission of the inflammatory process in autoimmune hepatitis, when used in combination with low doses of prednisone and azathioprine and to identify the prognostic factors associated with sustained remission. METHODS: Eighty-four patients with autoimmune hepatitis were consecutively recruited from 5 centers between January 1994 and March 2001. Cyclosporine was administered during the first 6 months. Thereafter, in patients with aminotransferase levels of lower than twice the normal values, prednisone and azathioprine were initiated. RESULTS: Normal aminotransferase levels were observed in 94.05% (79/84) of the patients, 72% of them within the first 6 months of treatment. Total serum bilirubin level of greater than 1.2 mg/dL and portal hypertension at diagnosis jointly predicted a significant delay in remission. Adverse effects related to cyclosporine remained mild and transient. Low doses of prednisone and standard doses of azathioprine were not implicated in relapse of the disease during the follow-up of any patient. CONCLUSIONS: This protocol allowed control of the liver inflammatory process and was well tolerated. The response to this immunosuppressive therapy can be predicted with accuracy. Factors delaying remission can be identified early at diagnosis and may contribute to the development of more effective treatment policies for this condition.
Subject(s)
Cyclosporine/therapeutic use , Hepatitis, Autoimmune/drug therapy , Immunosuppressive Agents/therapeutic use , Adolescent , Azathioprine/therapeutic use , Child , Child, Preschool , Drug Therapy, Combination , Female , Follow-Up Studies , Humans , Male , Prednisone/therapeutic use , Prognosis , Prospective Studies , Remission Induction , Treatment OutcomeABSTRACT
The Alagille syndrome is one of the most common inherited disorders causing chronic liver disease during childhood. During the 1990s, 38 children with Alagille syndrome were evaluated at two pediatric centers in Buenos Aires, Argentina. Characteristic clinical, humoral, and cutaneous features were analyzed. The average age of diagnosis was 29 months old (range of between 2 months and 15 years). Cholestasis was evident in 92% of patients during the neonatal period. Family antecedents related to the syndrome were found in 18.5% of the patients. Peculiar facies developed in 85% of patients. Chronic cholestasis and pruritus were observed in all of the patients and jaundice was evident in 78%. Eighty-four percent of the patients had heart disease (pulmonary stenosis, intraauricular communication, intraventricular communication), 76% of them showed growth retardation, and vertebrae abnormalities were found in 63%. Embryotoxon appeared in 76% of patients, and renal disturbances in 21%. Eleven children (28%) had xanthomas, in the neck, elbows, palms, helixes, inguinal area, gluteus, and knees. The earliest findings appeared in the first months of life, and the latest at 5 years of age. The xanthomas located in the folds had a stony aspect. Cholesterol levels ranging from 220 to 1600 mg percentage (mg%) were demonstrated in all of the children with xanthomas. Liver transplantation was performed in seven of the patients (18.4%). Two of them died after this operation. The disappearance of xanthomas after transplantation was remarkable in all of the patients.
