Two siblings with Gaucher type 3c: different clinical presentations

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dc.contributor.authorKarakoyun, Miray
dc.contributor.authorCanda, Ebru
dc.contributor.authorTasci, Ezgi Kiran
dc.contributor.authorDogan, Eser
dc.contributor.authorCoker, Mahmut
dc.contributor.authorAydogdu, Sema
dc.date.accessioned2019-10-27T09:44:35Z
dc.date.available2019-10-27T09:44:35Z
dc.date.issued2019
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground: Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene, which encodes acid beta-glucosidase. GD type 3c is a rare group characterised by cardiovascular involvement, and homozygous D448H is the most-frequent mutation. Case presentation: We describe two patients who had homozygous D448H mutations. The index patient had hepatosplenomegaly, liver insufficiency and cardiac involvement and her sister had severe cardiac involvement with cardiomyopathy and diffuse aortic calcification. The index case's liver was transplanted at the age of 6 months from a related donor and her sister who had severe cardiovascular disease died at the age of 12 years. Conclusions: Our patients had clinical variability. We need to discuss whether liver involvement could be the initial signs in patients with GD type 3c.en_US
dc.identifier.doi10.1515/jpem-2018-0549
dc.identifier.endpage536en_US
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issn0334-018Xen_US
dc.identifier.issn2191-0251en_US
dc.identifier.issue5en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage533en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2018-0549
dc.identifier.urihttps://hdl.handle.net/11454/29021
dc.identifier.volume32en_US
dc.identifier.wosWOS:000467531200015en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectcardiomyopathyen_US
dc.subjectGaucher disease type 3cen_US
dc.subjectliver failureen_US
dc.subjecttransplantationen_US
dc.titleTwo siblings with Gaucher type 3c: different clinical presentationsen_US
dc.typeArticleen_US

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