RESUMO
We report the case of a 10 year-old girl who had Stevens-Johnson syndrome and cholestasis after ibuprofen therapy. Liver histology was compatible with vanishing bile duct syndrome. She received ursodeoxycholic acid, and liver tests normalized within 7 months. This report confirms that ibuprofen may induce acute vanishing bile duct syndrome.
Assuntos
Anti-Inflamatórios não Esteroides/efeitos adversos , Doenças dos Ductos Biliares/induzido quimicamente , Ductos Biliares Intra-Hepáticos , Ibuprofeno/efeitos adversos , Doença Aguda , Doenças dos Ductos Biliares/patologia , Ductos Biliares Intra-Hepáticos/patologia , Criança , Colestase/induzido quimicamente , Feminino , Humanos , Síndrome de Stevens-Johnson/induzido quimicamente , SíndromeRESUMO
Clinical charts of 80 infants younger than 1 year who presented over a 14-year period (1986 to 2000) with acute liver failure (ALF), defined as prolonged prothrombin time greater than 17 seconds and decrease of clotting factor V plasma level below 50% of normal, were reviewed retrospectively. The main causes of ALF were inherited metabolic disorders in 42.5% of cases, including mitochondrial respiratory chain disorders in 17, type I hereditary tyrosinemia in 12, and urea cycle disorders in 2; neonatal hemochromatosis in 16% of cases; and acute viral hepatitis in 15% of cases (hepatitis B in 6, herpes virus type 6 in 4, and herpes simplex virus type 1 in 2). The cause of ALF remained undetermined in 16% of cases. A total of 19 (24%) infants survived without orthotopic liver transplantation; 38 (47%) infants died from sepsis, multiple organ failure, or because the underlying disease contraindicated orthotopic liver transplantation (12 [15%] infants), and 23 (29%) infants underwent orthotopic liver transplantation within 12 months from onset, 12 of whom are alive with a mean follow-up period of 5.2 years from orthotopic liver transplantation. We conclude that ALF during the first year of life is a severe condition with poor prognosis, despite the advent of liver transplantation.
Assuntos
Hospitais Pediátricos , Falência Hepática Aguda/mortalidade , Falência Hepática Aguda/cirurgia , Transplante de Fígado , Humanos , Lactente , Recém-Nascido , Falência Hepática Aguda/fisiopatologia , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Fatores de Tempo , Resultado do TratamentoRESUMO
We studied, retrospectively, 92 children who were first seen with neonatal cholestasis and who were followed up until liver test results normalized. Among the 92 children, 81 displayed factors responsible for chronic and/or acute perinatal distress. Onset of jaundice was recorded at a mean age of 7 days, and mean duration was 3.5 months. Stools, initially discolored in 39 children, were normally colored at a mean age of 1.7 months. Hepatomegaly present in 90 children resolved at a mean age of 13 months. Liver test results were normal at the age of 1 year in 83 children and normalized at a mean age of 10 months. Liver histologic examination, performed in 70 children, showed moderate portal and lobular fibrosis, multinucleated giant hepatocytes, and hematopoietic foci; findings in follow-up liver biopsy specimens from 15 children were normal or improved. Spontaneously resolving forms of neonatal cholestasis may result from the association of several factors, including immaturity of bile secretion and perinatal disease leading to hepatic hypoxia or ischemia.
Assuntos
Colestase/diagnóstico , Alanina Transaminase/sangue , Biópsia , Colangiografia , Colestase/tratamento farmacológico , Colestase/genética , Feminino , Seguimentos , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Fígado/patologia , Masculino , Tempo de Protrombina , Estudos Retrospectivos , Vitamina K/uso terapêuticoRESUMO
Inborn errors of oxidative phosphorylation have been recognized as possible causes of hepatic failure in the neonate, and respiratory enzyme deficiencies have been described in the liver of affected individuals. On the basis of a series of 22 cases, we describe respiratory enzyme deficiency as a cause of early-onset fatal hepatic failure with frequent neurologic involvement. In addition, we have identified a delayed-onset form of hepatic failure with a milder clinical course and inconstant neurologic involvement. Thus we suggest that genetic defects of oxidative phosphorylation be considered as a cause of liver dysfunction in infancy, regardless of the severity of the disease.
Assuntos
Falência Hepática/genética , Erros Inatos do Metabolismo/genética , Complexos Multienzimáticos/deficiência , Fosforilação Oxidativa , Alanina Transaminase/metabolismo , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Falência Hepática/enzimologia , Falência Hepática/mortalidade , Erros Inatos do Metabolismo/enzimologia , Complexos Multienzimáticos/metabolismoRESUMO
There have been a few reports of infants with severe neonatal cholestasis related to a defect in primary bile acid synthesis. To assess the importance of such deficiency among children with progressive intrahepatic cholestasis (Byler disease), screening for inborn errors in bile acid synthesis was performed by fast atom bombardment ionization-mass spectrometry of urine samples from 30 affected children. Bile acid analysis revealed a specific fast atom bombardment ionization-mass spectrometry profile for 3 beta-hydroxy-C27 steroid dehydrogenase/isomerase deficiency in five children who had jaundice, hepatosplenomegaly, and fatty stools beginning at ages ranging from 4 to 46 months. None of them had pruritus. Liver function tests showed persistently normal serum gamma-glutamyltransferase activity, low serum cholesterol and vitamin E levels, normal serum bile acid concentrations despite raised serum bilirubin levels, and decreased prothrombin time and clotting factor V. In four of the cases a similar disease was observed in siblings. Liver function returned to normal after oral ursodeoxycholic acid therapy. We conclude that 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency should be considered when idiopathic cholestatic liver disease with clinical features akin to Byler disease is characterized by the association of normal serum gamma-glutamyltransferase activity, normal serum bile acid concentration, absence of pruritus, and a return to normal liver function during ursodeoxycholic acid therapy. Early identification of these children is essential because they benefit from bile acid therapy and might thus avoid the need for liver transplantation.