Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

PloS One
Alessandro PecciItalian Registry for MYH9-releated diseases

Abstract

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. 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 1.9 ± 0.7 to 2.7 ± 1.6 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...Continue Reading

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Citations

Aug 14, 2012·Human Genetics·Carlo L Balduini, Anna Savoia
May 9, 2015·Clinical Genetics·A Savoia
Apr 30, 2015·Clinical Genetics·A Pecci
Apr 4, 2017·Platelets·Anna SavoiaAlessandro Pecci
Jun 9, 2017·Haemophilia : the Official Journal of the World Federation of Hemophilia·F MelazziniC L Balduini
Jul 19, 2012·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Rémi FavierJohn A Martignetti
Jun 20, 2020·International Journal of Hematology·Francesco PaciulloPaolo Gresele
Dec 5, 2017·Journal of Pediatric Hematology/oncology·Takahiro AokiSetsuo Ota
Oct 1, 2013·Clinical Kidney Journal·Diana VassalloConstantina Chrysochou
Aug 7, 2019·Clinical Kidney Journal·Nahid TabibzadehPhilippe Vanhille
Feb 6, 2021·Journal of Clinical Medicine·Loredana BuryPaolo Gresele
Apr 22, 2018·Gene·Alessandro PecciRobert S Adelstein
Jul 8, 2020·Cells·Cláudia Brito, Sandra Sousa
Dec 16, 2020·Blood Reviews·Alessandro Pecci, Carlo L Balduini
May 21, 2021·Clinical Chemistry and Laboratory Medicine : CCLM·Xiaoqiang LianShinji Kunishima

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