{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T22:31:31Z","timestamp":1790289091144,"version":"4.1.0"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2019,8,1]],"date-time":"2019-08-01T00:00:00Z","timestamp":1564617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"FIS\/Fondos"},{"DOI":"10.13039\/501100002924","name":"FEDER","doi-asserted-by":"publisher","award":["PI15\/00298"],"award-info":[{"award-number":["PI15\/00298"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002924","name":"FEDER","doi-asserted-by":"publisher","award":["CP14\/00133"],"award-info":[{"award-number":["CP14\/00133"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002924","name":"FEDER","doi-asserted-by":"publisher","award":["PI16\/02057"],"award-info":[{"award-number":["PI16\/02057"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002924","name":"FEDER","doi-asserted-by":"publisher","award":["PI16\/01900"],"award-info":[{"award-number":["PI16\/01900"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002924","name":"FEDER","doi-asserted-by":"publisher","award":["PI18\/00362"],"award-info":[{"award-number":["PI18\/00362"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002924","name":"FEDER","doi-asserted-by":"publisher","award":["PI18\/01366"],"award-info":[{"award-number":["PI18\/01366"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]},{"name":"ISCIII-RETIC REDinREN","award":["RD016\/0009"],"award-info":[{"award-number":["RD016\/0009"]}]},{"DOI":"10.13039\/100015883","name":"Sociedad Espa\u00f1ola de Nefrolog\u00eda","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100015883","id-type":"DOI","asserted-by":"crossref"}]},{"name":"FRIAT"},{"name":"Comunidad de Madrid en Biomedicina"},{"name":"ISCIII Rio Hortega"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this issue of ckj, Tabibzadeh et al. report one of the largest series of patients with MYH9 mutations and kidney disease. The cardinal manifestation of MYH9-related disease is thrombocytopenia with giant platelets. The population frequency of pathogenic MYH9 mutations may be at least 1 in 20\u2009000. The literature abounds in misdiagnosed cases treated for idiopathic thrombocytopenic purpura with immune suppressants and even splenectomy. Additional manifestations include neurosensorial deafness and proteinuric and hematuric progressive kidney disease (at some point, it was called Alport syndrome with macrothrombocytopenia), leucocyte inclusions, cataracts and liver enzyme abnormalities, resulting in different names for different manifestation combinations (MATINS, May\u2013Hegglin anomaly, Fechtner, Epstein and Sebastian syndromes, and deafness AD 17). The penetrance and severity of kidney disease are very variable, which may obscure the autosomal dominant inheritance. A correct diagnosis will both preclude unnecessary and potentially dangerous therapeutic interventions and allow genetic counselling and adequate treatment. Morphological erythrocyte, granulocyte and platelet abnormalities may allow the future development of high-throughput screening techniques adapted to clinical peripheral blood flow cytometers.<\/jats:p>","DOI":"10.1093\/ckj\/sfz103","type":"journal-article","created":{"date-parts":[[2019,7,26]],"date-time":"2019-07-26T11:10:24Z","timestamp":1564139424000},"page":"488-493","source":"Crossref","is-referenced-by-count":39,"title":["MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy"],"prefix":"10.1093","volume":"12","author":[{"given":"Raul","family":"Fernandez-Prado","sequence":"first","affiliation":[{"name":"Department of Nephrology and Hypertension, IIS-Fundacion Jimenez Diaz UAM, Madrid, Spain"},{"name":"REDinREN, Instituto de Investigaci\u00f3n Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sol Maria","family":"Carriazo-Julio","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension, IIS-Fundacion Jimenez Diaz UAM, Madrid, Spain"},{"name":"REDinREN, Instituto de Investigaci\u00f3n Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roser","family":"Torra","sequence":"additional","affiliation":[{"name":"REDinREN, Instituto de Investigaci\u00f3n Carlos III, Madrid, Spain"},{"name":"Nephrology Department, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau, Universitat Aut\u00f2noma de Barcelona, Barcelona, Catalonia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Ortiz","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension, IIS-Fundacion Jimenez Diaz UAM, Madrid, Spain"},{"name":"REDinREN, Instituto de Investigaci\u00f3n Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Vanessa","family":"Perez-Gomez","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension, IIS-Fundacion Jimenez Diaz UAM, Madrid, Spain"},{"name":"REDinREN, Instituto de Investigaci\u00f3n Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,8,1]]},"reference":[{"key":"2019080108203239600_sfz103-B1","doi-asserted-by":"crossref","DOI":"10.1093\/ckj\/sfy117","article-title":"MYH9-related disorders display heterogeneous kidney involvement and outcome","author":"Tabibzadeh","year":"2019","journal-title":"Clin Kidney J"},{"key":"2019080108203239600_sfz103-B2","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.gene.2018.04.048","article-title":"MYH9: structure, functions and role of non-muscle myosin IIA in human disease","volume":"664","author":"Pecci","year":"2018","journal-title":"Gene"},{"key":"2019080108203239600_sfz103-B3","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1016\/j.ejmg.2018.01.014","article-title":"Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related thrombocytopenia and MYH9-related diseases","volume":"61","author":"Balduini","year":"2018","journal-title":"Eur J Med Genet"},{"key":"2019080108203239600_sfz103-B4","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.nefro.2018.08.008","article-title":"MYH9 associated nephropathy","volume":"39","author":"Furlano","year":"2019","journal-title":"Nefrologia"},{"key":"2019080108203239600_sfz103-B5","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/79069","article-title":"Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly","volume":"26","author":"Kelley","year":"2000","journal-title":"Nat Genet"},{"key":"2019080108203239600_sfz103-B6","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/79063","article-title":"Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. 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