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dc.contributor.authorLittle, Mark
dc.contributor.authorCormican, S.
dc.contributor.authorConnaughton, D.M.
dc.contributor.authorKennedy, C.
dc.contributor.authorMurray, S.
dc.contributor.authorŽivná, M.
dc.contributor.authorKmoch, S.
dc.contributor.authorFennelly, N.K.
dc.contributor.authorO'Kelly, P.
dc.contributor.authorBenson, K.A.
dc.contributor.authorConlon, E.T.
dc.contributor.authorCavalleri, G.
dc.contributor.authorFoley, C.
dc.contributor.authorDoyle, B.
dc.contributor.authorDorman, A.
dc.contributor.authorLavin, P.
dc.contributor.authorKidd, K.
dc.contributor.authorBleyer, A.J.
dc.contributor.authorConlon, P.J.
dc.date.accessioned2020-01-28T12:01:23Z
dc.date.available2020-01-28T12:01:23Z
dc.date.issued2019
dc.date.submitted2019en
dc.identifier.citationCormican, S., Connaughton, D.M., Kennedy, C., Murray, S., Živná, M., Kmoch, S., Fennelly, N.K., O'Kelly, P., Benson, K.A., Conlon, E.T., Cavalleri, G., Foley, C., Doyle, B. & Conlon, P.J., Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland, Renal failure, 2019en
dc.identifier.otherY
dc.identifier.urihttp://hdl.handle.net/2262/91398
dc.descriptionPUBLISHEDen
dc.description.abstractIntroduction: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic cause of renal impairment resulting from mutations in the MUC1, UMOD, HNF1B, REN, and SEC61A1 genes. Neither the national or global prevalence of these diseases has been determined. We aimed to establish a database of patients with ADTKD in Ireland and report the clinical and genetic characteristics of these families. Methods: We identified patients via the Irish Kidney Gene Project and referral to the national renal genetics clinic in Beaumont Hospital who met the clinical criteria for ADTKD (chronic kidney disease, bland urinary sediment, and autosomal dominant inheritance). Eligible patients were then invited to undergo genetic testing by a variety of methods including panel-based testing, whole exome sequencing and, in five families who met the criteria for diagnosis of ADTKD but were negative for causal genetic mutations, we analyzed urinary cell smears for the presence of MUC1fs protein. Results: We studied 54 individuals from 16 families. We identified mutations in the MUC1 gene in three families, UMOD in five families, HNF1beta in two families, and the presence of abnormal MUC1 protein in urine smears in three families (one of which was previously known to carry the genetic mutation). We were unable to identify a mutation in 4 families (3 of whom also tested negative for urinary MUC1fs). Conclusions: There are 4443 people with ESRD in Ireland, 24 of whom are members of the cohort described herein. We observe that ADTKD represents at least 0.54% of Irish ESRD patients.en
dc.language.isoenen
dc.relation.ispartofseriesRenal failure;
dc.rightsYen
dc.subjectADTKDen
dc.subjectGeneticen
dc.subjectMUC-1en
dc.subjectUMODen
dc.subjectChronic kidney diseaseen
dc.subjectHNF-1Ben
dc.subjectUrinary smearen
dc.subjectFrameshiften
dc.titleAutosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.en
dc.typeJournal Articleen
dc.type.supercollectionscholarly_publicationsen
dc.type.supercollectionrefereed_publicationsen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/mlittle
dc.identifier.rssinternalid211054
dc.identifier.doihttps://doi.org/10.1111/ctr.13783
dc.rights.ecaccessrightsopenAccess
dc.subject.TCDThemeImmunology, Inflammation & Infectionen
dc.identifier.rssurihttps://onlinelibrary.wiley.com/doi/abs/10.1111/ctr.13783
dc.identifier.orcid_id0000-0001-6003-397X
dc.status.accessibleNen


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