Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity- Transient neonatal cholestasis

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dc.authoridkara, esra/0000-0001-9119-0791
dc.authoridBulut, Fatma Derya/0000-0003-0529-2404
dc.authoridVarol, İlknur fatma/0000-0001-5212-218X
dc.authoridEkinci, Faruk/0000-0001-6675-3150
dc.authoridKILAVUZ, SEBİLE/0000-0002-7527-2620
dc.authoridtug bozdogan, sevcan/0000-0003-3853-8212
dc.authoridSeker Yilmaz, Berna/0000-0003-0425-0341
dc.authorwosidkara, esra/JSK-7556-2023
dc.authorwosidBulut, Fatma Derya/J-8564-2018
dc.authorwosidDemir, Fadli/J-7606-2018
dc.authorwosidVarol, İlknur fatma/ABH-6387-2020
dc.authorwosidEkinci, Faruk/S-9162-2018
dc.authorwosidKILAVUZ, SEBİLE/B-1682-2018
dc.contributor.authorBulut, Fatma Derya
dc.contributor.authorKor, Deniz
dc.contributor.authorKilavuz, Sebile
dc.contributor.authorYilmaz, Berna Seker
dc.contributor.authorKaplan, Irem
dc.contributor.authorEkinci, Faruk
dc.contributor.authorBurgac, Ezgi
dc.date.accessioned2024-08-04T20:53:40Z
dc.date.available2024-08-04T20:53:40Z
dc.date.issued2023
dc.departmentİnönü Üniversitesien_US
dc.description.abstractGaucher disease (GD) is the most frequent lysosomal storage disorder due to biallelic pathogenic variants in GBA gene. Only homozygous D409H variant has been associated with the cardiovascular phenotype which is also known as Gaucher disease type 3c. In this descriptive study, we presented phenotypic heterogeneity and a novel clinical finding among 13 patients with GD type 3c. Patients presented with varying degrees of cardiac valve and/or aortic calcifications (84,6%) and corneal opacities (76,9%) in addition to visceral (100%), hematological (92,3%), neurological (92,3%), and skeletal (30%) manifestations. Also, cervical dystonia (38,4%) and psychi-atric disorders (46,1%) were not infrequent entities with respect to neurological involvement in GD type 3c. In this report, we highlight transient neonatal cholestasis (38,4%) as a novel finding in GD type 3c. Neonatal cholestasis is a finding associated with Gaucher type 2, but transient neonatal cholestasis has not been reported in GD patients, so far. The clinical features of GD type 3c are highly heterogeneous, from disease severity or age of onset to disease progression. Also, we concluded that phenotypic spectrum may be associated with age at onset of clinical symptoms. As, patients presenting in infancy or childhood had mainly visceral and hematological involvement and patients presenting in adolescence and adulthood had mainly cardiac, neurological involve-ment, and psychiatric behavioral disorders. Identifying the heterogeneous clinical course of these patients in this fatal disease, may lead a sufficient understanding of the pathophysiology which will enable targeted therapeutic interventions.en_US
dc.identifier.doi10.1016/j.ejmg.2023.104764
dc.identifier.issn1769-7212
dc.identifier.issn1878-0849
dc.identifier.issue6en_US
dc.identifier.pmid37061027en_US
dc.identifier.scopus2-s2.0-85153307564en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1016/j.ejmg.2023.104764
dc.identifier.urihttps://hdl.handle.net/11616/101307
dc.identifier.volume66en_US
dc.identifier.wosWOS:000987999000001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofEuropean Journal of Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectGaucher disease type 3cen_US
dc.subjectD409Hen_US
dc.subjectCardiac valve calcificationen_US
dc.subjectAortic calcificationen_US
dc.subjectTransient neonatal cholestasisen_US
dc.titleExpanding the phenotypic landscape of Gaucher disease type 3c with a novel entity- Transient neonatal cholestasisen_US
dc.typeArticleen_US

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