TY - JOUR T1 - Alteration of liver enzymes is a feature of the MYH9-related disease syndrome. JF - PLoS One Y1 - 2012 A1 - Pecci, Alessandro A1 - Biino, Ginevra A1 - Fierro, Tiziana A1 - Bozzi, Valeria A1 - Mezzasoma, Annamaria A1 - Noris, Patrizia A1 - Ramenghi, Ugo A1 - Loffredo, Giuseppe A1 - Fabris, Fabrizio A1 - Momi, Stefania A1 - Magrini, Umberto A1 - Pirastu, Mario A1 - Savoia, Anna A1 - Balduini, Carlo A1 - Gresele, Paolo KW - Abnormalities, Multiple KW - Adolescent KW - Adult KW - Aged KW - Aged, 80 and over KW - Biopsy KW - Case-Control Studies KW - Child KW - Child, Preschool KW - Demography KW - Female KW - Follow-Up Studies KW - Humans KW - Immunohistochemistry KW - Infant KW - Liver KW - Liver Function Tests KW - Male KW - Middle Aged KW - Molecular Motor Proteins KW - Mutation KW - Myosin Heavy Chains KW - Odds Ratio KW - Syndrome KW - Young Adult AB -

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 1.9 ± 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.

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.

VL - 7 IS - 4 U1 - http://www.ncbi.nlm.nih.gov/pubmed/22558294?dopt=Abstract ER -