Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.

Tomáš Dědič, Milan Jirsa, Radan Keil, Michal Rygl, Jiri Šnajdauf, Radana Kotalová

Journal: PloS one 2016;10(11):e0143939

PMID: 26618708

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Abstract

Alagille syndrome may mimic biliary atresia in early infancy. Since mutations in JAG1 typical for Alagille syndrome type 1 have also been found in biliary atresia, we aimed to identify JAG1 mutations in newborns with proven biliary atresia (n = 72). Five biliary atresia patients with cholestasis, one additional characteristic feature of Alagille syndrome and ambiguous liver histology were single heterozygotes for nonsense or frameshift mutations in JAG1. No mutations were found in the remaining 67 patients. All "biliary atresia" carriers of JAG1 null mutations developed typical Alagille syndrome at the age of three years. Our data do not support association of biliary atresia with JAG1 mutations, at least in Czech patients. Rapid testing for JAG1 mutations could prevent misdiagnosis of Alagille syndrome in early infancy and improve their outcome.

Address: Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.; Laboratory of Experimental Hepatology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Department of Internal Medicine, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.; Department of Paediatric Surgery, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.

DOI: 10.1371/journal.pone.0143939

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MeSH Terms: Alagille Syndrome, Biliary Atresia, Calcium-Binding Proteins, Codon, Nonsense, Czech Republic, Diagnosis, Differential, Female, Frameshift Mutation, Humans, Infant, Newborn, Intercellular Signaling Peptides and Proteins, Jagged-1 Protein, Male, Membrane Proteins, Mutation, Serrate-Jagged Proteins