Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome (Articolo in rivista)

Type
Label
  • Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome (Articolo in rivista) (literal)
Anno
  • 2012-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1371/journal.pone.0035986 (literal)
Alternative label
  • Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Noris P, Ramenghi U, Loffredo G, Fabris F, Momi S, Magrini U, Pirastu M, Savoia A, Balduini C, Gresele P; for the Italian Registry for MYH9-releated diseases (2012)
    Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome
    in PloS one
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Noris P, Ramenghi U, Loffredo G, Fabris F, Momi S, Magrini U, Pirastu M, Savoia A, Balduini C, Gresele P; for the Italian Registry for MYH9-releated diseases (literal)
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  • http://www.plosone.org (literal)
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  • 7 (literal)
Rivista
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  • 4 (literal)
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  • Scopu (literal)
  • ISI Web of Science (WOS) (literal)
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  • 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 (literal)
Titolo
  • Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome (literal)
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 noticed several cases with unexplained elevation of liver enzymes. Our aim was to evaluate if the alteration of liver tests is a feature of the MYH9-RD and to define its clinical significance. Methods and Findings: Data concerning liver tests, prospectively recorded in the Italian Registry for MYH9-RD, were collected and compared with those of three control populations: patients with autoimmune thrombocytopenia, patients with inherited thrombocytopenias other than MYH9-RD, and the participants to a large epidemiologic survey in an Italian geographic isolate. Thirty-eight of 75 evaluable MYH9-RD patients (50.7%) showed an elevation of ALT and/or AST, and 17 of 63 (27.0%) an increase of GGT. The increases ranged from 1.960.7 to 2.761.6 fold the upper normal limit. The prevalence of liver test alterations was significantly higher in MYH9-RD patients than in each of the control populations, with odds ratios ranging from 8.2 (95% CIs 2.2-44.8) to 24.7 (14.8-40.8). Clinical follow-up and more detailed liver studies of a subset of patients, including ultrasound liver scan, liver elastography and liver biopsy in one case, did not show any significant structural damage or evolution towards liver insufficiency. Conclusions: Elevation of liver enzymes is a frequent and previously unrecognized feature of the MYH9-RD syndrome; however, this defect does not appear to have poor prognostic value. (literal)
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