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dc.contributor.authorBleyer, A. J.en
dc.contributor.authorKmoch, S.en
dc.contributor.authorAntignac, C.en
dc.contributor.authorRobins, V.en
dc.contributor.authorKidd, K.en
dc.contributor.authorKelsoe, J. R.en
dc.contributor.authorHladik, G.en
dc.contributor.authorKlemmer, P.en
dc.contributor.authorKnohl, S. J.en
dc.contributor.authorScheinman, S. J.en
dc.contributor.authorVo, N.en
dc.contributor.authorSanti, A.en
dc.contributor.authorHarris, A.en
dc.contributor.authorCanaday, O.en
dc.contributor.authorWeller, N.en
dc.contributor.authorHulick, P. J.en
dc.contributor.authorVogel, K.en
dc.contributor.authorRahbari-Oskoui, F. F.en
dc.contributor.authorTuazon, J.en
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.contributor.authorSomers, D.en
dc.contributor.authorMegarbane, A.en
dc.contributor.authorKimmel, P. L.en
dc.contributor.authorSperati, C. J.en
dc.contributor.authorOrr-Urtreger, A.en
dc.contributor.authorBen-Shachar, S.en
dc.contributor.authorWaugh, D. A.en
dc.contributor.authorMcginn, S.en
dc.contributor.authorBleyer Jr., A. J.en
dc.contributor.authorHodaňová, K.en
dc.contributor.authorVyletal, P.en
dc.contributor.authorŽivná, M.en
dc.contributor.authorHart, T. C.en
dc.contributor.authorHart, P. S.en
dc.creatorBleyer, A. J.en
dc.creatorKmoch, S.en
dc.creatorAntignac, C.en
dc.creatorRobins, V.en
dc.creatorKidd, K.en
dc.creatorKelsoe, J. R.en
dc.creatorHladik, G.en
dc.creatorKlemmer, P.en
dc.creatorKnohl, S. J.en
dc.creatorScheinman, S. J.en
dc.creatorVo, N.en
dc.creatorSanti, A.en
dc.creatorHarris, A.en
dc.creatorCanaday, O.en
dc.creatorWeller, N.en
dc.creatorHulick, P. J.en
dc.creatorVogel, K.en
dc.creatorRahbari-Oskoui, F. F.en
dc.creatorTuazon, J.en
dc.creatorConstantinou-Deltas, Constantinos D.en
dc.creatorSomers, D.en
dc.creatorMegarbane, A.en
dc.creatorKimmel, P. L.en
dc.creatorSperati, C. J.en
dc.creatorOrr-Urtreger, A.en
dc.creatorBen-Shachar, S.en
dc.creatorWaugh, D. A.en
dc.creatorMcginn, S.en
dc.creatorBleyer Jr., A. J.en
dc.creatorHodaňová, K.en
dc.creatorVyletal, P.en
dc.creatorŽivná, M.en
dc.creatorHart, T. C.en
dc.creatorHart, P. S.en
dc.date.accessioned2019-11-04T12:50:16Z
dc.date.available2019-11-04T12:50:16Z
dc.date.issued2014
dc.identifier.issn1555-9041
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/52951
dc.description.abstractBackground and objectives The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a protein that is present in skin, breast, and lung tissue, the gastrointestinal tract, and the distal tubules of the kidney. The purpose of this investigationwas to analyze the clinical characteristics of families and individuals with this mutation. Design, setting, participants, & measurements Families with autosomal dominant interstitial kidney diseasewere referred for genetic analysis over a 14-year period. Families without UMOD or REN mutations prospectively underwent genotyping for the presence of the MUC1 mutation. Clinical characteristics were retrospectively evaluated in individuals with the MUC1 mutation and historically affected individuals (persons who were both related to genetically affected individuals in such a way that ensured that they could be genetically affected and had a history of CKD stage IV or kidney failure resulting in death, dialysis, or transplantation). Results Twenty-four families were identified with the MUC1 mutation. Of 186 family members undergoing MUC1 mutational analysis, the mutation was identified in 95 individuals, 91 individuals did not have the mutation, and111 individuals were identified as historically affected. Individuals with the MUC1 mutation suffered from chronic kidney failure with a widely variable age of onset of end stage kidney disease ranging from 16 to.80 years. Urinalyses revealed minimal protein and no blood. Ultrasounds of 35 individuals showed no medullary cysts. There were no clinical manifestations of the MUC1 mutation detected in the breasts, skin, respiratory system, or gastrointestinal tract. ConclusionMUC1 mutation results in progressive chronic kidney failurewith a bland urinary sediment. The age of onset of end stage kidney disease is highly variable, suggesting that gene-gene or gene-environment interactions contribute to phenotypic variability. © 2014 by the American Society of Nephrology.en
dc.sourceClinical Journal of the American Society of Nephrologyen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84896813347&doi=10.2215%2fCJN.06380613&partnerID=40&md5=9f2fc8eed946039880ebb34f267bd55d
dc.subjectAge Factorsen
dc.subjectarticleen
dc.subjectYoung Adulten
dc.subjecthumanen
dc.subjectAgeden
dc.subjectHumansen
dc.subjectadulten
dc.subjectfemaleen
dc.subjectmajor clinical studyen
dc.subjectDisease Progressionen
dc.subjectRetrospective Studiesen
dc.subjectTime Factorsen
dc.subjectmaleen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectRisk Factorsen
dc.subjectRisk Assessmenten
dc.subjectmiddle ageden
dc.subjecturinalysisen
dc.subjectgene mutationen
dc.subjectMutationen
dc.subjectmutational analysisen
dc.subjectAdolescenten
dc.subjectgenetic analysisen
dc.subjectRegistriesen
dc.subjectDNA Mutational Analysisen
dc.subjectmucin 1en
dc.subjectglomerulus filtration rateen
dc.subjectPhenotypeen
dc.subjectGene-Environment Interactionen
dc.subjectAged, 80 and overen
dc.subjectKidney Failure, Chronicen
dc.subjectKidneyen
dc.subjectPedigreeen
dc.subjectchromosome 1en
dc.subjectgenotyping techniqueen
dc.subjectmedullary sponge kidneyen
dc.subjectMucin-1en
dc.subjectPolycystic Kidney, Autosomal Dominanten
dc.subjectreninen
dc.subjectTamm Horsfall glycoproteinen
dc.subjectvariable number of tandem repeaten
dc.titleVariable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1en
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.2215/CJN.06380613
dc.description.volume9
dc.description.startingpage527
dc.description.endingpage535
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 :15</p>en
dc.source.abbreviationClin.J.Am.Soc.Nephrol.en
dc.contributor.orcidConstantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
dc.gnosis.orcid0000-0001-5549-9169


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