Publication:
Clinical course of sly syndrome (mucopolysaccharidosis type VII).

dc.contributor.authorMontaño, 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.authorÇoker, 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.authorEzgü, 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, José
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.accessioned2023-01-25T08:31:06Z
dc.date.available2023-01-25T08:31:06Z
dc.date.issued2016-02-23
dc.description.abstractMucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-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. 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. 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. 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.
dc.identifier.doi10.1136/jmedgenet-2015-103322
dc.identifier.essn1468-6244
dc.identifier.pmcPMC4893087
dc.identifier.pmid26908836
dc.identifier.pubmedURLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893087/pdf
dc.identifier.unpaywallURLhttps://jmg.bmj.com/content/jmedgenet/53/6/403.full.pdf
dc.identifier.urihttp://hdl.handle.net/10668/9860
dc.issue.number6
dc.journal.titleJournal of medical genetics
dc.journal.titleabbreviationJ Med Genet
dc.language.isoen
dc.organizationHospital Universitario Virgen del Rocío
dc.page.number403-18
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.rightsAttribution-NonCommercial 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/
dc.subjectClinical genetics
dc.subjectGenetics
dc.subjectMetabolic disorders
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshFemale
dc.subject.meshGlucuronidase
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshLysosomal Storage Diseases
dc.subject.meshMale
dc.subject.meshMucopolysaccharidosis VII
dc.subject.meshPhenotype
dc.subject.meshSurveys and Questionnaires
dc.subject.meshYoung Adult
dc.titleClinical course of sly syndrome (mucopolysaccharidosis type VII).
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number53
dspace.entity.typePublication

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