{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T16:33:06Z","timestamp":1740155586809,"version":"3.37.3"},"reference-count":11,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Medicine"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p><jats:italic>Case Presentation<\/jats:italic>. 53-years-old-man with essential hypertension and nonnephrotic proteinuria (1.3\u2009gr\/24\u2009h) and with normal renal function (eGFR-MDRD 123\u2009mL\/min\/1.73\u2009m<jats:sup>2<\/jats:sup>) was admitted to nephrology department; kidney biopsy showed FSGS; two years later the patient presented with ulceration and ischemic gangrene of the IV and V right-hand fingertips; genetic analysis demonstrated polymorphism of the methylenetetrahydrofolate reductase genes C677T (heterozygote C677T\/1298AC with normal value of homocysteine) and mutations of prothrombin gene G20210A and of plasminogen activator inhibitor-1 4G\/5G 675 with slight increase of its value. After five years from biopsy, 24-hours proteinuria was still around 1\u20131.3\u2009g\/die; renal function was still normal (eGFR 107\u2009ml\/min\/1.73\u2009m<jats:sup>2<\/jats:sup>). These data are against the previous diagnosis of primary FSGS. We hypothesize that genetic thrombophilia may explain all the clinical signs of our patient.<jats:italic>Conclusions<\/jats:italic>. Alterations in genes of thrombophilia should be ruled out in patients with bioptic diagnosis of \u201cprimary\u201d FSGS, in particular if clinically atypical.<\/jats:p>","DOI":"10.1155\/2014\/832592","type":"journal-article","created":{"date-parts":[[2014,3,17]],"date-time":"2014-03-17T17:03:33Z","timestamp":1395075813000},"page":"1-4","source":"Crossref","is-referenced-by-count":0,"title":["Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation?"],"prefix":"10.1155","volume":"2014","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0341-8870","authenticated-orcid":true,"given":"Lisa","family":"Giovannini","sequence":"first","affiliation":[{"name":"Department of Clinical & Experimental Medicine, School of Nephrology, University of Pisa, Via Paradisa 2, 56100 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1124-5129","authenticated-orcid":true,"given":"Carlo","family":"Donadio","sequence":"additional","affiliation":[{"name":"Department of Clinical & Experimental Medicine, School of Nephrology, University of Pisa, Via Paradisa 2, 56100 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"2","doi-asserted-by":"publisher","DOI":"10.1007\/s11239-012-0731-9"},{"key":"1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.29074\/ascls.25.4.199","volume":"25","year":"2012","journal-title":"Clinical Laboratory Science"},{"key":"3","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1007\/s11239-012-0824-5","volume":"36","year":"2013","journal-title":"Journal of Thrombosis and Thrombolysis"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1053\/euhj.2001.2685"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-8703(03)00519-2"},{"issue":"3","key":"6","first-page":"287","volume":"24","year":"2005","journal-title":"International Angiology"},{"issue":"8","key":"7","first-page":"30","volume":"81","year":"2009","journal-title":"Terapevticheski\u01d0 Arkhiv"},{"key":"8","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.rdc.2006.05.004","volume":"32","year":"2006","journal-title":"Rheumatic Disease Clinics of North America"},{"issue":"9","key":"9","first-page":"568","volume":"58","year":"1983","journal-title":"Mayo Clinic Proceedings"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ki.5001551"},{"issue":"4","key":"11","doi-asserted-by":"crossref","first-page":"299","DOI":"10.2174\/187569211798377135","volume":"9","year":"2011","journal-title":"Current Pharmacogenomics and Personalized Medicine"}],"container-title":["Case Reports in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crim\/2014\/832592.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crim\/2014\/832592.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crim\/2014\/832592.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T10:34:47Z","timestamp":1565260487000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crim\/2014\/832592\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":11,"alternative-id":["832592","832592"],"URL":"https:\/\/doi.org\/10.1155\/2014\/832592","relation":{},"ISSN":["1687-9627","1687-9635"],"issn-type":[{"type":"print","value":"1687-9627"},{"type":"electronic","value":"1687-9635"}],"subject":[],"published":{"date-parts":[[2014]]}}}