Thrombosis risk of Alport syndrome patients: evaluation of cardiological, clinical, biochemical, genetic and possible causes of inherited thrombophilia and identification of a novel COL4A3 variant

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dc.contributor.authorEroz, Recep
dc.contributor.authorDamar, Brahim H.
dc.contributor.authorKilicaslan, Onder
dc.date.accessioned2021-12-01T18:47:08Z
dc.date.available2021-12-01T18:47:08Z
dc.date.issued2020
dc.department[Belirlenecek]en_US
dc.description.abstractTo evaluate cases with Alport syndrome for laboratory, radiological, ophthalmological, auditory tests, cardiological and inherited thrombophilia risk. Laboratory findings, abdominal and urinary ultrasonography, ophthalmological and auditory tests and cardiological examination of 21 Alport syndrome suspicious cases were performed. Also, collagen type IV alpha three chain (COL4A3) gene, four chain (COL4A4) gene and five chain (COL4A5) genes were sequenced by next-generation sequencing system. In addition, possible causes of inherited thrombophilia were evaluated. A novel (c.2806C> T/p.Gln936Ter) variation in COL4A3 gene was detected in three cases. Also c.221G>A/p.Arg74Gln variation in COL4A5 gene of two cases, c.4421C>T/p.Thr1474Met variation in COL4A4 gene of one case, c.665C>T/p.Pro222Leu variation in COL4A4 gene of one case and compound heterozygous c.4421C>T/(p.Thr1474Met) and c.665C>T/p.Pro222Leu variation in COL4A4 gene of one case were detected. Although 10 (47.6%) cases had microscopic hematuria, six (28.6%) cases had macroscopic hematuria, but there were not hematuria in five (23.8%) of cases. Three cases with variation carrier in COL4A genes and one case without variation carrier had vision problem. Also, one case with variation carrier in COL4A gene had hearing loss. All cases with variation carrier in COL4A genes exclude one had at least one cardiac problems. Also, all cases with variation carrier in COL4A genes had possible causes of inherited thrombophilia risk. In addition to developing risk of progressive kidney failure, sensorineural hearing loss and ocular abnormalities, Alport syndrome cases may have increasing cardiac problems and possible causes of inherited thrombophilia risk. Therefore, these cases should be regularly evaluated and followed for cardiac problems and inherited thrombophilia risk. Copyright (C) 2020 Wolters Kluwer Health, Inc. All rights reserved.en_US
dc.identifier.doi10.1097/MBC.0000000000000911
dc.identifier.endpage269en_US
dc.identifier.issn0957-5235
dc.identifier.issn1473-5733
dc.identifier.issue4en_US
dc.identifier.pmid32332277en_US
dc.identifier.scopus2-s2.0-85084721849en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage264en_US
dc.identifier.urihttps://doi.org/10.1097/MBC.0000000000000911
dc.identifier.urihttps://hdl.handle.net/20.500.12684/10159
dc.identifier.volume31en_US
dc.identifier.wosWOS:000619284300005en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.relation.ispartofBlood Coagulation & Fibrinolysisen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectalport syndromeen_US
dc.subjectCOL4A3en_US
dc.subjectCOL4A4 and COL4A5 genesen_US
dc.subjecthematuriaen_US
dc.subjectnext-generation sequencingen_US
dc.subjectthrombosisen_US
dc.titleThrombosis risk of Alport syndrome patients: evaluation of cardiological, clinical, biochemical, genetic and possible causes of inherited thrombophilia and identification of a novel COL4A3 varianten_US
dc.typeArticleen_US

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