{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:11:01Z","timestamp":1792782661444,"version":"4.5.0"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T00:00:00Z","timestamp":1779062400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T00:00:00Z","timestamp":1779062400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Zagazig University","id":[{"id":"https:\/\/ror.org\/053g6we49","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Thrombotic microangiopathy (TMA) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ injury, most commonly acute kidney injury (AKI). It may occur as a primary complement\u2011mediated disorder or secondary to other diseases. Germline mutations in\n                    <jats:italic>GATA1<\/jats:italic>\n                    cause X\u2011linked thrombocytopenia with or without dyserythropoietic anemia. We report an 8\u2011year\u2011old boy with long\u2011standing steroid\u2011dependent cytopenias and congenital anomalies who presented with severe infection, hemolysis, thrombocytopenia, and AKI requiring hemodialysis. Although the presentation fulfilled criteria for suspected TMA, ADAMTS13 activity, complement factor H levels, and anti-factor H antibodies were normal, excluding primary TMA. Whole\u2011exome sequencing identified a hemizygous pathogenic\n                    <jats:italic>GATA1<\/jats:italic>\n                    variant (c.646C&gt;T; p.Arg216Trp), establishing GATA1\u2011related dyserythropoietic anemia with thrombocytopenia. Renal function fully recovered following supportive therapy, immunomodulation, and dialysis discontinuation. This case underscores the importance of considering secondary TMA\u2011like syndromes in inherited marrow disorders and highlights the diagnostic value of genomic testing in atypical TMA presentations.\n                  <\/jats:p>","DOI":"10.1007\/s00467-026-07336-0","type":"journal-article","created":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T14:56:33Z","timestamp":1779116193000},"page":"3895-3898","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Thrombotic microangiopathy\u2013like acute kidney injury revealing a germline GATA1 mutation in a child with inherited cytopenia"],"prefix":"10.1007","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1685-891X","authenticated-orcid":false,"given":"Amal E.","family":"Gohary","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doaa M.","family":"Youssef","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Hanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona Hamed","family":"Gehad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,5,18]]},"reference":[{"key":"7336_CR1","doi-asserted-by":"publisher","first-page":"3177","DOI":"10.1007\/s00277-023-05363-7","volume":"102","author":"X-H Sun","year":"2023","unstructured":"Sun X-H, Liu Q, Wu S-N et al (2023) Cytopenia: a report of haplo-cord transplantation in twin brothers caused by a novel germline GATA1 mutation and family survey. Ann Hematol 102:3177\u20133184. https:\/\/doi.org\/10.1007\/s00277-023-05363-7","journal-title":"Ann Hematol"},{"key":"7336_CR2","doi-asserted-by":"publisher","first-page":"2103","DOI":"10.1182\/blood-2016-09-687889","volume":"129","author":"JD Crispino","year":"2017","unstructured":"Crispino JD, Horwitz MS (2017) GATA factor mutations in hematologic disease. Blood 129:2103\u20132110. https:\/\/doi.org\/10.1182\/blood-2016-09-687889","journal-title":"Blood"},{"key":"7336_CR3","doi-asserted-by":"publisher","first-page":"2681","DOI":"10.1182\/blood.v98.9.2681","volume":"98","author":"MG Mehaffey","year":"2001","unstructured":"Mehaffey MG, Newton AL, Gandhi MJ et al (2001) X-linked thrombocytopenia caused by a novel mutation of GATA-1. Blood 98:2681\u20132688. https:\/\/doi.org\/10.1182\/blood.v98.9.2681","journal-title":"Blood"},{"key":"7336_CR4","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1038\/73480","volume":"24","author":"KE Nichols","year":"2000","unstructured":"Nichols KE, Crispino JD, Poncz M et al (2000) Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 24:266\u2013270. https:\/\/doi.org\/10.1038\/73480","journal-title":"Nat Genet"},{"key":"7336_CR5","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1182\/blood.v98.1.85","volume":"98","author":"K Freson","year":"2001","unstructured":"Freson K, Devriendt K, Matthijs G et al (2001) Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood 98:85\u201392. https:\/\/doi.org\/10.1182\/blood.v98.1.85","journal-title":"Blood"},{"key":"7336_CR6","doi-asserted-by":"publisher","DOI":"10.1080\/09537104.2025.2500499","volume":"36","author":"EH Aktekin","year":"2025","unstructured":"Aktekin EH, Ceylaner S, Be\u015fen \u015e et al (2025) A case with a novel GATA1 variant mimicking immune thrombocytopenia attacks. Platelets 36:2500499. https:\/\/doi.org\/10.1080\/09537104.2025.2500499","journal-title":"Platelets"},{"key":"7336_CR7","doi-asserted-by":"publisher","first-page":"3297","DOI":"10.1182\/blood-2006-02-004101","volume":"109","author":"VN Tubman","year":"2007","unstructured":"Tubman VN, Levine JE, Campagna DR et al (2007) X-linked Gray Platelet Syndrome due to a GATA1 Arg216Gln mutation. Blood 109:3297\u20133299. https:\/\/doi.org\/10.1182\/blood-2006-02-004101","journal-title":"Blood"},{"key":"7336_CR8","doi-asserted-by":"publisher","first-page":"2040","DOI":"10.1182\/blood-2002-02-0387","volume":"100","author":"C Yu","year":"2002","unstructured":"Yu C, Niakan KK, Matsushita M et al (2002) X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood 100:2040\u20132045. https:\/\/doi.org\/10.1182\/blood-2002-02-0387","journal-title":"Blood"},{"key":"7336_CR9","doi-asserted-by":"publisher","DOI":"10.3892\/ijmm.2022.5156","volume":"50","author":"Y Gao","year":"2022","unstructured":"Gao Y, Xu W, Guo C, Huang T (2022) GATA1 regulates the microRNA\u2011328\u20113p\/PIM1 axis via circular RNA ITGB1 to promote renal ischemia\/reperfusion injury in HK\u20112 cells. Int J Mol Med 50:100. https:\/\/doi.org\/10.3892\/ijmm.2022.5156","journal-title":"Int J Mol Med"},{"key":"7336_CR10","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-018-0471-6","volume":"12","author":"M Danyel","year":"2019","unstructured":"Danyel M, Suk EK, Raile V et al (2019) Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report. BMC Med Genomics 12:6. https:\/\/doi.org\/10.1186\/s12920-018-0471-6","journal-title":"BMC Med Genomics"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-026-07336-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-026-07336-0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-026-07336-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T15:37:01Z","timestamp":1790264221000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-026-07336-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,18]]},"references-count":10,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2026,11]]}},"alternative-id":["7336"],"URL":"https:\/\/doi.org\/10.1007\/s00467-026-07336-0","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,18]]},"assertion":[{"value":"19 February 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 April 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 April 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 May 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The study was approved by the Institutional Review Board (IRB) of the Faculty of Medicine, Zagazig University, Egypt (IRB #2043). Written informed consent was secured from the parents, including consent for publication of clinical details and images.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","label":"Conflict of interest","group":{"name":"EthicsHeading","label":"Declarations"}}]}}