Alpha-1-Antitrypsin Deficiency Presenting as Neonatal Cholestasis: Predictors of Outcome and Effect of Ursodeoxycholic Acid
نویسندگان
چکیده
1Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Rua Jorge Viterbo Ferreira, no 228, 4050-313 Porto, Portugal 2Paediatric Gastroenterology Service, Department of Child and Adolescent, Centro Hospitalar do Porto, Largo Abel Salazar, 4099-001 Porto, Portugal 3Paediatric Service, Unidade Hospitalar de Famalicao, Centro Hospitalar do Médio Ave, Rua de Cupertino de Miranda, 4764-958 Vila Nova de Famalicão, Portugal 4Paediatric Service, Department of Child and Adolescent, Centro Hospitalar do Porto; Largo Abel Salazar, 4099-001 Porto, Portugal 5Metabolic Diseases Unit, Paediatric Service, Department of Child and Adolescent, Centro Hospitalar do Porto; Largo Abel Salazar, 4099-001 Porto, Portugal
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Application of ursodeoxycholic acid in hepatobiliary scintigraphy for neonatal hyperbilirubinemia: Comparison with phenobarbital
Introduction: Early differentiation of biliary atresia from neonatal hepatitis is of utmost importance, since on time surgery of biliary atresia significantly improves the outcome. Hepatobiliary scintigraphy is an integral part of diagnosis work-up of these patients; however its specificity for diagnosis of biliary atresia is suboptimal. In this study we evaluated t...
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OBJECTIVE Alpha1-antitrypsin deficiency (A1ATD) is the most important indication for liver transplantation in children. The gene frequencies vary in different ethnic groups. In the present study, we attempt to determine the frequencies of the most common defective alleles, Z and S, in Iranian children suffering from idiopathic neonatal cholestasis. Eighty-seven infants were typed for Z and S al...
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alpha(1) Antitrypsin deficiency is a significant factor in the pathogenesis of neonatal cholestasis and progressive juvenile cirrhosis. The diagnosis may be suggested by the liver biopsy appearances and confirmed by immunochemical analysis of the serum. Genetic counselling of affected families is of importance, as medical treatment is ineffective at the present time.
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