Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome
Open Access
- 25 April 2012
- journal article
- research article
- Published by Public Library of Science (PLoS) in PLOS ONE
- Vol. 7 (4), e35986
- https://doi.org/10.1371/journal.pone.0035986
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 24.7 (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. 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.Keywords
This publication has 34 references indexed in Scilit:
- Recent advances in the understanding and management of MYH9‐related inherited thrombocytopeniasBritish Journal of Haematology, 2011
- Analysis of 12,517 inhabitants of a Sardinian geographic isolate reveals that predispositions to thrombocytopenia and thrombocytosis are inherited traitsHaematologica, 2010
- Molecular determinants dictating cell surface expression of the human sodium-dependent vitamin C transporter-2 in human liver cellsAmerican Journal of Physiology-Gastrointestinal and Liver Physiology, 2010
- Dominant inheritance of a novel integrin 3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian familiesHaematologica, 2009
- Liver tetraploidization is controlled by a new process of incomplete cytokinesisJournal of Cell Science, 2007
- Rho Kinase, Myosin-II, and p42/44 MAPK Control Extracellular Matrix-mediated Apical Bile Canalicular Lumen Morphogenesis in HepG2 CellsMolecular Biology of the Cell, 2006
- A single class II myosin modulates T cell motility and stopping, but not synapse formationNature Immunology, 2004
- Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traitsHuman Genetics, 2001
- Upregulation of molecular motor-encoding genes during hepatocyte growth factor-and epidermal growth factor-induced cell motilityJournal of Cellular Physiology, 1996
- Myosin in hepatocytes is essential for bile canalicular contractionLiver International, 1991