biostudies-literatureKamp JCDeutsche ForschungsgemeinschaftStichting Marcel Brus Fonds2485https://www.ebi.ac.uk/biostudies/studies/S-EPMC9916468biostudies-literatureUnknown24(3)PiZZ (Glu342Lys) α1-antitrypsin deficiency (AATD) is characterized by intrahepatic AAT polymerization and is a risk factor for liver disease development in children. The majority of PiZZ children are disease free, hence this mutation alone is not sufficient to cause the disease. We investigated Z-AAT polymers and the expression of fibrosis-related genes in liver tissues of PiZZ children with different clinical courses. Liver biopsies obtained during 1979-2010 at the Department of Paediatrics, Karolinska University Hospital, Sweden, were subjected to histological re-evaluation, immunohistochemistry and NanoString-based transcriptome profiling using a panel of 760 fibrosis plus 8 bile acid-related genes. Subjects were divided into three groups based on clinical outcomes: NCH (neonatal cholesInternational journal of molecular sciencesFibrosis-Related Gene Profiling in Liver Biopsies of PiZZ α1-Antitrypsin Children with Different Clinical Courses.PMC9916468STR1095/6-1RSIN 860974376Janciauskiene SFuge JKuehnel MPKhedoe PPSJMoro CFStrnad PKamp JCHoek BVWrenger SBjornstedt MStolk JNemeth AWelte TKappe NNJonigk DDfalseFibrosis-Related Gene Profiling in Liver Biopsies of PiZZ α1-Antitrypsin Children with Different Clinical Courses.PiZZ (Glu342Lys) α1-antitrypsin deficiency (AATD) is characterized by intrahepatic AAT polymerization and is a risk factor for liver disease development in children. The majority of PiZZ children are disease free, hence this mutation alone is not sufficient to cause the disease. We investigated Z-AAT polymers and the expression of fibrosis-related genes in liver tissues of PiZZ children with different clinical courses. Liver biopsies obtained during 1979-2010 at the Department of Paediatrics, Karolinska University Hospital, Sweden, were subjected to histological re-evaluation, immunohistochemistry and NanoString-based transcriptome profiling using a panel of 760 fibrosis plus 8 bile acid-related genes. Subjects were divided into three groups based on clinical outcomes: NCH (neonatal choles2023-01-01T00:00:00Z2023 Jan2025-04-25T19:25:28.674Z2025-04-06T07:57:47.666ZS-EPMC99164683676880810.3390/ijms24032485