{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T09:23:54Z","timestamp":1775035434037,"version":"3.50.1"},"reference-count":8,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2019,5,15]],"date-time":"2019-05-15T00:00:00Z","timestamp":1557878400000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Alexion Pharma and Genetic"},{"name":"Pesquero Lab"},{"name":"UNIFESP"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>A 17-year-old male presented thrombotic microangiopathy (TMA) at 6 months of age with arterial hypertension, anemia, thrombocytopenia and kidney injury improving with plasma infusions. Fourteen years later, he was diagnosed with severe arterial hypertension, increase in serum creatinine and chronic TMA on kidney biopsy. Eculizumab was started and after 18\u2009months of treatment, he persisted with hypertension, decline in renal function and proteinuria. Genetic analysis demonstrated mutation in diacylglycerol kinase epsilon (DGKe). Complement blockade was stopped. This case of late diagnosis of DGKe nephropathy highlights the importance of genetic testing in patients presenting TMA during the first year of life.<\/jats:p>","DOI":"10.1093\/ckj\/sfz043","type":"journal-article","created":{"date-parts":[[2019,3,22]],"date-time":"2019-03-22T16:19:31Z","timestamp":1553271571000},"page":"641-644","source":"Crossref","is-referenced-by-count":8,"title":["Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications"],"prefix":"10.1093","volume":"12","author":[{"given":"Maria Izabel de","family":"Holanda","sequence":"first","affiliation":[{"name":"Department of Nephrology, Hospital Federal de Bonsucesso, Rio de Janeiro, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caio Perez","family":"Gomes","sequence":"additional","affiliation":[{"name":"Center for Research and Diagnostics of Genetics Diseases, Department of Biophysics, Escola Paulista de Medicina, UNIFESP, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanley de Almeida","family":"Araujo","sequence":"additional","affiliation":[{"name":"Department of Pathology, Instituto de Nefropatologia, Belo Horizonte, MG, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David Campos","family":"Wanderley","sequence":"additional","affiliation":[{"name":"Department of Pathology, Instituto de Nefropatologia, Belo Horizonte, MG, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renato George","family":"Eick","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Hospital Moinhos de Vento, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gustavo Coelho","family":"Dantas","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Hospital Memorial S\u00e3o Jos\u00e9, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele Karen dos Santos","family":"Tino","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Hospital Materno-Infantil, Goi\u00e2nia, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o Bosco","family":"Pesquero","sequence":"additional","affiliation":[{"name":"Center for Research and Diagnostics of Genetics Diseases, Department of Biophysics, Escola Paulista de Medicina, UNIFESP, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0334-8470","authenticated-orcid":false,"given":"Lilian Monteiro Pereira","family":"Palma","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, State University of Campinas, Campinas, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2019,5,14]]},"reference":[{"key":"2019120611142363700_sfz043-B1","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2019120611142363700_sfz043-B2","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.kint.2018.02.029","article-title":"Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype and outcome","volume":"94","author":"Schaefer","year":"2018","journal-title":"Kidney 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