Alteration of liver enzymes is a feature of the MYH9-related disease syndrome
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...
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| Veröffentlicht in: | PloS one 2012-04, Vol.7 (4), p.e35986-e35986 |
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| creator | Pecci, Alessandro Biino, Ginevra Fierro, Tiziana Bozzi, Valeria Mezzasoma, Annamaria Noris, Patrizia Ramenghi, Ugo Loffredo, Giuseppe Fabris, Fabrizio Momi, Stefania Magrini, Umberto Pirastu, Mario Savoia, Anna Balduini, Carlo Gresele, Paolo |
| description | 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. |
| doi_str_mv | 10.1371/journal.pone.0035986 |
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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.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0035986</identifier><identifier>PMID: 22558294</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Abnormalities, Multiple - enzymology ; Abnormalities, Multiple - genetics ; Abnormalities, Multiple - physiopathology ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Autosomal dominant inheritance ; Bile ; Biology ; Biopsy ; Case-Control Studies ; Child ; Child, Preschool ; Deafness ; Demography ; Enzymes ; Epidemiology ; Female ; Follow-Up Studies ; Genetic aspects ; Genetic disorders ; Humans ; Immunohistochemistry ; Infant ; Kinases ; Laboratories ; Liver ; Liver - enzymology ; Liver - pathology ; Liver Function Tests ; Male ; Medicine ; Middle Aged ; Molecular Motor Proteins - genetics ; Molecular Motor Proteins - metabolism ; Mutation - genetics ; Myosin Heavy Chains - genetics ; Myosin Heavy Chains - metabolism ; Nephropathy ; Odds Ratio ; Patients ; Populations ; Syndrome ; Thrombocytopenia ; Ultrasound ; Young Adult</subject><ispartof>PloS one, 2012-04, Vol.7 (4), p.e35986-e35986</ispartof><rights>COPYRIGHT 2012 Public Library of Science</rights><rights>2012 Pecci et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Pecci et al. 2012</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-9dc4aa7931ca25c4aa12fe00061745529521e4a1e817194f63152bd49d7a532b3</citedby><cites>FETCH-LOGICAL-c692t-9dc4aa7931ca25c4aa12fe00061745529521e4a1e817194f63152bd49d7a532b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338476/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338476/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79343,79344</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22558294$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Schulz, Christian</contributor><creatorcontrib>Pecci, Alessandro</creatorcontrib><creatorcontrib>Biino, Ginevra</creatorcontrib><creatorcontrib>Fierro, Tiziana</creatorcontrib><creatorcontrib>Bozzi, Valeria</creatorcontrib><creatorcontrib>Mezzasoma, Annamaria</creatorcontrib><creatorcontrib>Noris, Patrizia</creatorcontrib><creatorcontrib>Ramenghi, Ugo</creatorcontrib><creatorcontrib>Loffredo, Giuseppe</creatorcontrib><creatorcontrib>Fabris, Fabrizio</creatorcontrib><creatorcontrib>Momi, Stefania</creatorcontrib><creatorcontrib>Magrini, Umberto</creatorcontrib><creatorcontrib>Pirastu, Mario</creatorcontrib><creatorcontrib>Savoia, Anna</creatorcontrib><creatorcontrib>Balduini, Carlo</creatorcontrib><creatorcontrib>Gresele, Paolo</creatorcontrib><creatorcontrib>Italian Registry for MYH9-releated diseases</creatorcontrib><creatorcontrib>for the Italian Registry for MYH9-releated diseases</creatorcontrib><title>Alteration of liver enzymes is a feature of the MYH9-related disease syndrome</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>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.</description><subject>Abnormalities, Multiple - enzymology</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - physiopathology</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Autosomal dominant inheritance</subject><subject>Bile</subject><subject>Biology</subject><subject>Biopsy</subject><subject>Case-Control Studies</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Deafness</subject><subject>Demography</subject><subject>Enzymes</subject><subject>Epidemiology</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Genetic aspects</subject><subject>Genetic disorders</subject><subject>Humans</subject><subject>Immunohistochemistry</subject><subject>Infant</subject><subject>Kinases</subject><subject>Laboratories</subject><subject>Liver</subject><subject>Liver - enzymology</subject><subject>Liver - pathology</subject><subject>Liver Function Tests</subject><subject>Male</subject><subject>Medicine</subject><subject>Middle Aged</subject><subject>Molecular Motor Proteins - genetics</subject><subject>Molecular Motor Proteins - metabolism</subject><subject>Mutation - genetics</subject><subject>Myosin Heavy Chains - genetics</subject><subject>Myosin Heavy Chains - metabolism</subject><subject>Nephropathy</subject><subject>Odds Ratio</subject><subject>Patients</subject><subject>Populations</subject><subject>Syndrome</subject><subject>Thrombocytopenia</subject><subject>Ultrasound</subject><subject>Young Adult</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><sourceid>DOA</sourceid><recordid>eNqNkl2L1DAUhoso7jr6D0QLgujFjPlqM70RhkXdgV0W_AKvwmlyOtOlbcYkXRx_vanTXaayF5KLhHOe857k5E2S55QsKJf03bXtXQfNYmc7XBDCs2KZP0hOacHZPGeEPzw6nyRPvL8mJOPLPH-cnDCWZUtWiNPkctUEdBBq26W2Spv6Bl2K3e99iz6tfQpphRB6h0M2bDG9_HFezB02ENCkpvYIHlO_74yzLT5NHlXQeHw27rPk28cPX8_O5xdXn9Znq4u5zgsW5oXRAkAWnGpg2XCmrEJCSE6lyDJWZIyiAIpLKmkhqpzTjJVGFEZCxlnJZ8nLg-6usV6Nk_CKciZyQpgUkVgfCGPhWu1c3YLbKwu1-huwbqPAhVo3qKqSchCoeQkgTCmBaya1kQaIZjkZur0fu_Vli0ZjFxw0E9Fppqu3amNvFOd8KWQeBd6MAs7-7NEH1dZeY9NAh7aP9yaMxU40_tcsefUPev_rRmoD8QF1V9nYVw-iaiWkJCKjnERqcQ8Vl8G21tE2VR3jk4K3k4LIBPwVNtB7r9ZfPv8_e_V9yr4-YrcITdh62_SD6_wUFAdQO-u9w-puyJSowfW301CD69Xo-lj24viD7opubc7_AMlK-ww</recordid><startdate>20120425</startdate><enddate>20120425</enddate><creator>Pecci, Alessandro</creator><creator>Biino, Ginevra</creator><creator>Fierro, Tiziana</creator><creator>Bozzi, Valeria</creator><creator>Mezzasoma, Annamaria</creator><creator>Noris, Patrizia</creator><creator>Ramenghi, Ugo</creator><creator>Loffredo, Giuseppe</creator><creator>Fabris, Fabrizio</creator><creator>Momi, Stefania</creator><creator>Magrini, Umberto</creator><creator>Pirastu, Mario</creator><creator>Savoia, Anna</creator><creator>Balduini, Carlo</creator><creator>Gresele, Paolo</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20120425</creationdate><title>Alteration of liver enzymes is a feature of the MYH9-related disease syndrome</title><author>Pecci, Alessandro ; Biino, Ginevra ; Fierro, Tiziana ; Bozzi, Valeria ; Mezzasoma, Annamaria ; Noris, Patrizia ; Ramenghi, Ugo ; Loffredo, Giuseppe ; Fabris, Fabrizio ; Momi, Stefania ; Magrini, Umberto ; Pirastu, Mario ; Savoia, Anna ; Balduini, Carlo ; Gresele, Paolo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-9dc4aa7931ca25c4aa12fe00061745529521e4a1e817194f63152bd49d7a532b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Abnormalities, Multiple - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Pecci, Alessandro</au><au>Biino, Ginevra</au><au>Fierro, Tiziana</au><au>Bozzi, Valeria</au><au>Mezzasoma, Annamaria</au><au>Noris, Patrizia</au><au>Ramenghi, Ugo</au><au>Loffredo, Giuseppe</au><au>Fabris, Fabrizio</au><au>Momi, Stefania</au><au>Magrini, Umberto</au><au>Pirastu, Mario</au><au>Savoia, Anna</au><au>Balduini, Carlo</au><au>Gresele, Paolo</au><au>Schulz, Christian</au><aucorp>Italian Registry for MYH9-releated diseases</aucorp><aucorp>for the Italian Registry for MYH9-releated diseases</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Alteration of liver enzymes is a feature of the MYH9-related disease syndrome</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2012-04-25</date><risdate>2012</risdate><volume>7</volume><issue>4</issue><spage>e35986</spage><epage>e35986</epage><pages>e35986-e35986</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><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.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>22558294</pmid><doi>10.1371/journal.pone.0035986</doi><tpages>e35986</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2012-04, Vol.7 (4), p.e35986-e35986 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_1324600274 |
| source | Public Library of Science (PLoS) Journals Open Access; MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Abnormalities, Multiple - enzymology Abnormalities, Multiple - genetics Abnormalities, Multiple - physiopathology Adolescent Adult Aged Aged, 80 and over Autosomal dominant inheritance Bile Biology Biopsy Case-Control Studies Child Child, Preschool Deafness Demography Enzymes Epidemiology Female Follow-Up Studies Genetic aspects Genetic disorders Humans Immunohistochemistry Infant Kinases Laboratories Liver Liver - enzymology Liver - pathology Liver Function Tests Male Medicine Middle Aged Molecular Motor Proteins - genetics Molecular Motor Proteins - metabolism Mutation - genetics Myosin Heavy Chains - genetics Myosin Heavy Chains - metabolism Nephropathy Odds Ratio Patients Populations Syndrome Thrombocytopenia Ultrasound Young Adult |
| title | Alteration of liver enzymes is a feature of the MYH9-related disease syndrome |
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