Show simple item record

dc.contributor.authorEckardt, K. -Uen
dc.contributor.authorAlper, S. L.en
dc.contributor.authorAntignac, C.en
dc.contributor.authorBleyer, A. J.en
dc.contributor.authorChauveau, D.en
dc.contributor.authorDahan, K.en
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.contributor.authorHosking, A.en
dc.contributor.authorKmoch, S.en
dc.contributor.authorRampoldi, L.en
dc.contributor.authorWiesener, M.en
dc.contributor.authorWolf, M. T.en
dc.contributor.authorDevuyst, O.en
dc.creatorEckardt, K. -Uen
dc.creatorAlper, S. L.en
dc.creatorAntignac, C.en
dc.creatorBleyer, A. J.en
dc.creatorChauveau, D.en
dc.creatorDahan, K.en
dc.creatorConstantinou-Deltas, Constantinos D.en
dc.creatorHosking, A.en
dc.creatorKmoch, S.en
dc.creatorRampoldi, L.en
dc.creatorWiesener, M.en
dc.creatorWolf, M. T.en
dc.creatorDevuyst, O.en
dc.date.accessioned2019-11-04T12:50:32Z
dc.date.available2019-11-04T12:50:32Z
dc.date.issued2015
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53058
dc.description.abstractRare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations. The multiplicity of these terms, and the fact that cysts are not pathognomonic, creates confusion. Kidney Disease: Improving Global Outcomes (KDIGO) proposes adoption of a new terminology for this group of diseases using the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' (ADTKD) appended by a gene-based subclassification, and suggests diagnostic criteria. Implementation of these recommendations is anticipated to facilitate recognition and characterization of these monogenic diseases. A better understanding of these rare disorders may be relevant for the tubulointerstitial fibrosis component in many forms of chronic kidney disease.en
dc.sourceKidney internationalen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84942986418&doi=10.1038%2fki.2015.28&partnerID=40&md5=86053717ea4ccca9c05dd28d4720da65
dc.subjecthepatocyte nuclear factor-1βel
dc.subjecthumanen
dc.subjectHumansen
dc.subjectfollow upen
dc.subjectPredictive Value of Testsen
dc.subjectpriority journalen
dc.subjecttreatment outcomeen
dc.subjectgenetic associationen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectclinical featureen
dc.subjectArticleen
dc.subjectpractice guidelineen
dc.subjectpathophysiologyen
dc.subjectkidney diseaseen
dc.subjectphenotypeen
dc.subjectgenetic predispositionen
dc.subjectgeneticsen
dc.subjectkidney transplantationen
dc.subjectgene mutationen
dc.subjectclassificationen
dc.subjectdiagnostic testen
dc.subjectpredictive valueen
dc.subjectmutationen
dc.subjectconsensus developmenten
dc.subjectKidney Diseasesen
dc.subjectdisease classificationen
dc.subjectconsensusen
dc.subjectmucin 1en
dc.subjecttreatment contraindicationen
dc.subjectglomerulus filtration rateen
dc.subjectgenetic screeningen
dc.subjectgenetic disorderen
dc.subjectdna mutational analysisen
dc.subjectgenetic codeen
dc.subjectPolycystic Kidney, Autosomal Dominanten
dc.subjectreninen
dc.subjectTamm Horsfall glycoproteinen
dc.subjectgouten
dc.subjecthyperuricemiaen
dc.subjectnephronophthisisen
dc.subjectautosomal dominant tubulointerstitial kidney diseaseen
dc.subjectdeficiencyen
dc.subjecthepatocyte nuclear factor 1betaen
dc.subjectHNF1B geneen
dc.subjectmedical terminologyen
dc.subjectmedication therapy managementen
dc.subjectMUC1 geneen
dc.subjectmucin-1en
dc.subjectnephrologyen
dc.subjectnomenclatureen
dc.subjectpreproreninen
dc.subjectREN geneen
dc.subjectstandardsen
dc.subjectTerminology as Topicen
dc.subjectUMOD geneen
dc.subjecturomodulinen
dc.titleAutosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management - A KDIGO consensus reporten
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1038/ki.2015.28
dc.description.volume88
dc.description.startingpage676
dc.description.endingpage683
dc.author.facultyΣχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences
dc.author.departmentΤμήμα Βιολογικών Επιστημών / Department of Biological Sciences
dc.type.uhtypeArticleen
dc.description.notes<p>Cited By :41</p>en
dc.source.abbreviationKidney Int.en
dc.contributor.orcidConstantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
dc.gnosis.orcid0000-0001-5549-9169


Files in this item

FilesSizeFormatView

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record