{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:40:10Z","timestamp":1756323610663,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"6","license":[{"start":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T00:00:00Z","timestamp":1750723200000},"content-version":"unspecified","delay-in-days":23,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,5,29]]},"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:p>A young woman with a history of thrombocytopenia was treated for idiopathic thrombocytopenic purpura (ITP) with splenectomy, intravenous immunoglobulin, steroids and chemotherapeutic agents. The patient experienced hearing loss during childhood and, as a teenager, was diagnosed with hypertension and nephrotic-range proteinuria, which progressed to renal failure requiring dialysis. On presentation to our institution, her platelet count was 13\u00d710<jats:sup>9<\/jats:sup>\u2009\/L. Peripheral blood smear showed giant platelets and leucocyte inclusions. The presence of thrombocytopenia with giant platelets, leucocyte inclusions, renal failure and hearing loss raised the possibility of <jats:italic>MYH9<\/jats:italic>-related disorder (<jats:italic>MYH9<\/jats:italic>-RD). Genetic testing revealed a pathogenic mutation, c.2105G&gt;A (p.Arg702His), confirming the diagnosis. Patients with <jats:italic>MYH9<\/jats:italic>-RD are frequently misdiagnosed with ITP and consequently receive futile and potentially toxic interventions. Considering <jats:italic>MYH9<\/jats:italic>-RD as a differential diagnosis in patients presenting with thrombocytopenia is important, especially when there is a history of early-onset renal failure, hearing loss, or cataracts.<\/jats:p>","DOI":"10.1136\/bcr-2024-262915","type":"journal-article","created":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T14:25:24Z","timestamp":1750775124000},"page":"e262915","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Thrombocytopenia, renal failure and hearing loss in a young patient: <i>MYH9<\/i>-related disorder"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-9115-4923","authenticated-orcid":false,"given":"Suresh","family":"Nukala","sequence":"first","affiliation":[{"name":"Department of Hematology Oncology, Piedmont Columbus Regional Northside, Columbus, Georgia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-2534-2837","authenticated-orcid":false,"given":"Fnu","family":"Aparna","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Piedmont Columbus Regional Northside, Columbus, Georgia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-9233-4599","authenticated-orcid":false,"given":"Mariha","family":"Feliciano","sequence":"additional","affiliation":[{"name":"Hospital Medicine, Piedmont Columbus Regional Northside, Columbus, Georgia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-7417-9005","authenticated-orcid":false,"given":"Jessica Lynn","family":"Withey","sequence":"additional","affiliation":[{"name":"Internal Medicine, St Francis Emory Healthcare, Columbus, Georgia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,6,24]]},"reference":[{"key":"2025082712121898000_18.6.e262915.1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1220327"},{"key":"2025082712121898000_18.6.e262915.2","unstructured":"Registro italiano della malattia MYH9-correlata. n.d. Available: http:\/\/www.registromyh9.org"},{"key":"2025082712121898000_18.6.e262915.3","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"2025082712121898000_18.6.e262915.4","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1093\/ckj\/sfz103","article-title":"MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy","volume":"12","author":"Fernandez-Prado","year":"2019","journal-title":"Clin Kidney J"},{"key":"2025082712121898000_18.6.e262915.5","unstructured":"Savoia A , Pecci A . MYH9-related disease. In: Adam MP , Feldman J , Mirzaa GM , et al ., eds. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle, 1993. Available: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK2689\/"},{"key":"2025082712121898000_18.6.e262915.6","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051119"},{"key":"2025082712121898000_18.6.e262915.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2018.04.048"},{"key":"2025082712121898000_18.6.e262915.8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22476"},{"key":"2025082712121898000_18.6.e262915.9","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2010.21"},{"key":"2025082712121898000_18.6.e262915.10","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-03-564328"},{"key":"2025082712121898000_18.6.e262915.11","article-title":"Estimation of Total Platelet Count From Peripheral Blood Smear Needs a Correction Factor","volume":"14","author":"Sahu","year":"2022","journal-title":"Cureus"},{"key":"2025082712121898000_18.6.e262915.12","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1111\/ijlh.14123","article-title":"Measurement of immature platelet fraction is useful in the differential diagnosis of MYH9 disorders","volume":"45","author":"Kouno","year":"2023","journal-title":"Int J Lab Hematol"},{"key":"2025082712121898000_18.6.e262915.13","doi-asserted-by":"crossref","first-page":"E199","DOI":"10.1002\/ajh.25500","article-title":"Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia","volume":"94","author":"Zaninetti","year":"2019","journal-title":"Am J Hematol"},{"key":"2025082712121898000_18.6.e262915.14","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfn277"},{"key":"2025082712121898000_18.6.e262915.15","doi-asserted-by":"crossref","first-page":"232","DOI":"10.4274\/tjh.galenos.2023.2023-0138","article-title":"Successful Kidney Transplantation in MYH-9-Related Disease Presenting with Severe Macrothrombocytopenia","volume":"40","author":"B\u00fclb\u00fcl","year":"2023","journal-title":"Turk J Haematol"},{"key":"2025082712121898000_18.6.e262915.16","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/s13730-024-00892-0","article-title":"MYH9-related disorder with sole presentation of end-stage kidney disease and long-term, recurrence-free living after living donor renal transplantation: a case report","volume":"14","author":"Horibe","year":"2025","journal-title":"CEN Case Rep"},{"key":"2025082712121898000_18.6.e262915.17","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-9-100","article-title":"Cochlear implantation is safe and effective in patients with MYH9-related disease","volume":"9","author":"Pecci","year":"2014","journal-title":"Orphanet J Rare Dis"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-262915","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:12:29Z","timestamp":1756321949000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-262915"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6]]},"references-count":17,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2025,6,24]]},"published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1136\/bcr-2024-262915"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-262915","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,6]]}}}