Clinical course of sly syndrome (mucopolysaccharidosis type VII)

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dc.contributor.authorMontano, Adriana M.
dc.contributor.authorLock-Hock, Ngu
dc.contributor.authorSteiner, Robert D.
dc.contributor.authorGraham, Brett H.
dc.contributor.authorSzlago, Marina
dc.contributor.authorGreenstein, Robert
dc.contributor.authorPineda, Mercedes
dc.contributor.authorGonzalez-Meneses, Antonio
dc.contributor.authorCoker, Mahmut
dc.contributor.authorBartholomew, Dennis
dc.contributor.authorSands, Mark S.
dc.contributor.authorWang, Raymond
dc.contributor.authorGiugliani, Roberto
dc.contributor.authorMacaya, Alfons
dc.contributor.authorPastores, Gregory
dc.contributor.authorKetko, Anastasia K.
dc.contributor.authorEzgu, Fatih
dc.contributor.authorTanaka, Akemi
dc.contributor.authorArash, Laila
dc.contributor.authorBeck, Michael
dc.contributor.authorFalk, Rena E.
dc.contributor.authorBhattacharya, Kaustuv
dc.contributor.authorFranco, Jose
dc.contributor.authorWhite, Klane K.
dc.contributor.authorMitchell, Grant A.
dc.contributor.authorCimbalistiene, Loreta
dc.contributor.authorHoltz, Max
dc.contributor.authorSly, William S.
dc.date.accessioned2019-10-27T23:09:45Z
dc.date.available2019-10-27T23:09:45Z
dc.date.issued2016
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of beta-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data. Methods We have conducted a survey of physicians to document the medical history of patients with MPS VII. The survey included anonymous information on patient demographics, family history, mode of diagnosis, age of onset, signs and symptoms, severity, management, clinical features and natural progression of the disease. Results We collected information on 56 patients from 11 countries. Patients with MPS VII were classified based on their phenotype into three different groups: (1) neonatal non-immune hydrops fetalis (NIHF) (n=10), (2) Infantile or adolescent form with history of hydrops fetalis (n=13) and (3) Infantile or adolescent form without known hydrops fetalis (n=33). Thirteen patients with MPS VII who had the infantile form with history of hydrops fetalis and survived childhood, had a wide range of clinical manifestations from mild to severe. Five patients underwent bone marrow transplantation and one patient underwent enzyme replacement therapy with recombinant human GUS. Conclusions MPS VII is a pan-ethnic inherited lysosomal storage disease with considerable phenotypical heterogeneity. Most patients have short stature, skeletal dysplasia, hepatosplenomegaly, hernias, cardiac involvement, pulmonary insufficiency and cognitive impairment. In these respects it resembles MPS I and MPS II. In MPS VII, however, one unique and distinguishing clinical feature is the unexpectedly high proportion of patients (41%) that had a history of NIHF. Presence of NIHF does not, by itself, predict the eventual severity of the clinical course, if the patient survives infancy.en_US
dc.description.sponsorshipUltragenyx Pharmaceutical [16232]en_US
dc.description.sponsorshipThis work was supported in part by Ultragenyx Pharmaceutical grant number 16232.en_US
dc.identifier.doi10.1136/jmedgenet-2015-103322en_US
dc.identifier.endpage418en_US
dc.identifier.issn0022-2593
dc.identifier.issn1468-6244
dc.identifier.issue6en_US
dc.identifier.pmid26908836en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage403en_US
dc.identifier.urihttps://doi.org/10.1136/jmedgenet-2015-103322
dc.identifier.urihttps://hdl.handle.net/11454/52737
dc.identifier.volume53en_US
dc.identifier.wosWOS:000377110800007en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherBmj Publishing Groupen_US
dc.relation.ispartofJournal of Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleClinical course of sly syndrome (mucopolysaccharidosis type VII)en_US
dc.typeArticleen_US

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