Show simple item record

dc.contributor.authorBruserud, Øyvind
dc.contributor.authorOftedal, Bergithe Eikeland
dc.contributor.authorLandegren, Nils
dc.contributor.authorErichsen, Martina Moter
dc.contributor.authorBratland, Eirik
dc.contributor.authorLima, Kari
dc.contributor.authorJørgensen, Anders Palmstrøm
dc.contributor.authorMyhre, Anne Grethe
dc.contributor.authorSvartberg, Johan
dc.contributor.authorFougner, Kristian J
dc.contributor.authorBakke, Åsne
dc.contributor.authorNedrebø, Bjørn Gunnar
dc.contributor.authorMella, Bjarne
dc.contributor.authorBreivik, Lars Ertesvåg
dc.contributor.authorViken, Marte K
dc.contributor.authorKnappskog, Per
dc.contributor.authorCuida Marthinussen, Ileana Mihaela
dc.contributor.authorLøvås, Kristian
dc.contributor.authorKämpe, Olle
dc.contributor.authorWolff, Anette Susanne Bøe
dc.contributor.authorHusebye, Eystein Sverre
dc.date.accessioned2017-03-10T17:23:41Z
dc.date.available2017-03-10T17:23:41Z
dc.date.issued2016-06-02
dc.description.abstract<b>Context:</b> Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disease defined by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insuffi- ciency, and chronic mucocutaneous candidiasis (CMC). Information on longitudinal follow-up of APS1 is sparse. <b>Objective:</b> To describe the phenotypes of APS1 and correlate the clinical features with autoantibody profiles and autoimmune regulator ( AIRE) mutations during extended follow-up (1996–2016). Patients: All known Norwegian patients with APS1. <b>Results:</b> Fifty-two patients from 34 families were identified. The majority presented with one of the major disease components during childhood. Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent compo- nents.Withage,mostpatientspresentedthreetofivediseasemanifestations,althoughsomehadmilderphenotypes diagnosed in adulthood. Fifteen of the patients died during follow-up (median age at death, 34 years) or were deceasedsiblingswithahighprobabilityofundisclosedAPS1.Allexceptthreehadinterferon- )autoantibodies,and allhadorgan-specificautoantibodies.Themostcommon AIRE mutationwasc.967_979del13,foundinhomozygosity in 15 patients. A mild phenotype was associated with the splice mutation c.879 1G A. Primary adrenocortical insufficiency and type 1 diabetes were associated with protective human leucocyte antigen genotypes. <b>Conclusions:</b> Multiple presumable autoimmune manifestations, in particular hypoparathyroidism, CMC, and enamel hypoplasia, should prompt further diagnostic workup using autoantibody analyses (eg, interferon- ) and AIRE sequencing to reveal APS1, even in adults. Treatment is complicated, and mortality is high. Structured follow-up should be performed in a specialized center.en_US
dc.descriptionSource:<a href=http://doi.org/10.1210/jc.2016-1821>https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971337/</a>en_US
dc.identifier.citationBruserud Ø, Oftedal BE, Landegren N, Erichsen EMM, Bratland E, Lima K, Jørgensen AP, Myhre AG, Svartberg J, Fougner KJ, Bakke Å, Nedrebø BG, Mella B, Breivik L, Viken MK, Knappskog PM, Cuida Marthinussen MC, Løvås K, Kämpe O, Wolff AS, Husebye ES. A longitudinal follow-up of autoimmune polyendocrine syndrome type 1. Journal of Clinical Endocrinology and Metabolism. 2016;101(8):2975-2983en_US
dc.identifier.cristinIDFRIDAID 1392631
dc.identifier.doi10.1210/jc.2016-1821
dc.identifier.issn0021-972X
dc.identifier.issn1945-7197
dc.identifier.urihttps://hdl.handle.net/10037/10560
dc.language.isoengen_US
dc.publisherThe Endocrine Society. The Journal of Clinical Endocrinology and Metabolism, 101(8), 2975–2983.en_US
dc.relation.journalJournal of Clinical Endocrinology and Metabolism
dc.rights.accessRightsopenAccessen_US
dc.subjectVDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Endokrinologi: 774en_US
dc.titleA longitudinal follow-up of autoimmune polyendocrine syndrome type 1en_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


File(s) in this item

Thumbnail

This item appears in the following collection(s)

Show simple item record