alteration of liver enzymes is a feature of the myh9-related disease syndrome变更的肝酶的特性myh9-related疾病综合症.pdfVIP

Alteration of Liver Enzymes Is a Feature of the Myh9- Related Disease Syndrome 1 2,8 3 1 3 Alessandro Pecci , Ginevra Biino , Tiziana Fierro , Valeria Bozzi , Annamaria Mezzasoma , 1 4 5 6 3 Patrizia Noris , Ugo Ramenghi , Giuseppe Loffredo , Fabrizio Fabris , Stefania Momi , 7 8 9 1 3 Umberto Magrini , Mario Pirastu , Anna Savoia , Carlo Balduini , Paolo Gresele *, for the Italian Registry for MYH9-releated diseases 1 Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy, 2 Institute of Molecular Genetics, CNR, Pavia, Italy, 3 Division of Internal and Cardiovascular Medicine, Department of Internal Medicine, University of Perugia, Perugia, Italy, 4 Department of Pediatrics, University of Torino, Torino, Italy, 5 Department of Oncology, Azienda ‘‘Santobono-Pausilipon’’, Pausilipon Hospital, Napoli, Italy, 6 Department of Medical Sciences, University of Padova, Padova, Italy, 7 Department of Pathology, University of Pavia, Pavia, Italy, 8 Institution of Population Genetics, CNR, Sassari, Italy, 9 Laboratory of Genetics, Institute for Maternal and Child Health – IRCCS ‘‘Burlo Garofolo’’, Trieste, Italy Abstract Background: MYH9-related disease (MYH9-RD) is a rare autosomal dominant genetic syndrome characterized by congenital thrombocytopenia associated with the risk of developing progressive nephropathy, sensorineural deafness, and presenile cataract. During the collection of a large case-series of patients with MYH9-RD we noti