Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1
dc.contributor.author | Bleyer, A. J. | en |
dc.contributor.author | Kmoch, S. | en |
dc.contributor.author | Antignac, C. | en |
dc.contributor.author | Robins, V. | en |
dc.contributor.author | Kidd, K. | en |
dc.contributor.author | Kelsoe, J. R. | en |
dc.contributor.author | Hladik, G. | en |
dc.contributor.author | Klemmer, P. | en |
dc.contributor.author | Knohl, S. J. | en |
dc.contributor.author | Scheinman, S. J. | en |
dc.contributor.author | Vo, N. | en |
dc.contributor.author | Santi, A. | en |
dc.contributor.author | Harris, A. | en |
dc.contributor.author | Canaday, O. | en |
dc.contributor.author | Weller, N. | en |
dc.contributor.author | Hulick, P. J. | en |
dc.contributor.author | Vogel, K. | en |
dc.contributor.author | Rahbari-Oskoui, F. F. | en |
dc.contributor.author | Tuazon, J. | en |
dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Somers, D. | en |
dc.contributor.author | Megarbane, A. | en |
dc.contributor.author | Kimmel, P. L. | en |
dc.contributor.author | Sperati, C. J. | en |
dc.contributor.author | Orr-Urtreger, A. | en |
dc.contributor.author | Ben-Shachar, S. | en |
dc.contributor.author | Waugh, D. A. | en |
dc.contributor.author | Mcginn, S. | en |
dc.contributor.author | Bleyer Jr., A. J. | en |
dc.contributor.author | Hodaňová, K. | en |
dc.contributor.author | Vyletal, P. | en |
dc.contributor.author | Živná, M. | en |
dc.contributor.author | Hart, T. C. | en |
dc.contributor.author | Hart, P. S. | en |
dc.creator | Bleyer, A. J. | en |
dc.creator | Kmoch, S. | en |
dc.creator | Antignac, C. | en |
dc.creator | Robins, V. | en |
dc.creator | Kidd, K. | en |
dc.creator | Kelsoe, J. R. | en |
dc.creator | Hladik, G. | en |
dc.creator | Klemmer, P. | en |
dc.creator | Knohl, S. J. | en |
dc.creator | Scheinman, S. J. | en |
dc.creator | Vo, N. | en |
dc.creator | Santi, A. | en |
dc.creator | Harris, A. | en |
dc.creator | Canaday, O. | en |
dc.creator | Weller, N. | en |
dc.creator | Hulick, P. J. | en |
dc.creator | Vogel, K. | en |
dc.creator | Rahbari-Oskoui, F. F. | en |
dc.creator | Tuazon, J. | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Somers, D. | en |
dc.creator | Megarbane, A. | en |
dc.creator | Kimmel, P. L. | en |
dc.creator | Sperati, C. J. | en |
dc.creator | Orr-Urtreger, A. | en |
dc.creator | Ben-Shachar, S. | en |
dc.creator | Waugh, D. A. | en |
dc.creator | Mcginn, S. | en |
dc.creator | Bleyer Jr., A. J. | en |
dc.creator | Hodaňová, K. | en |
dc.creator | Vyletal, P. | en |
dc.creator | Živná, M. | en |
dc.creator | Hart, T. C. | en |
dc.creator | Hart, P. S. | en |
dc.date.accessioned | 2019-11-04T12:50:16Z | |
dc.date.available | 2019-11-04T12:50:16Z | |
dc.date.issued | 2014 | |
dc.identifier.issn | 1555-9041 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/52951 | |
dc.description.abstract | Background 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.source | Clinical Journal of the American Society of Nephrology | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84896813347&doi=10.2215%2fCJN.06380613&partnerID=40&md5=9f2fc8eed946039880ebb34f267bd55d | |
dc.subject | Age Factors | en |
dc.subject | article | en |
dc.subject | Young Adult | en |
dc.subject | human | en |
dc.subject | Aged | en |
dc.subject | Humans | en |
dc.subject | adult | en |
dc.subject | female | en |
dc.subject | major clinical study | en |
dc.subject | Disease Progression | en |
dc.subject | Retrospective Studies | en |
dc.subject | Time Factors | en |
dc.subject | male | en |
dc.subject | Genetic Predisposition to Disease | en |
dc.subject | Risk Factors | en |
dc.subject | Risk Assessment | en |
dc.subject | middle aged | en |
dc.subject | urinalysis | en |
dc.subject | gene mutation | en |
dc.subject | Mutation | en |
dc.subject | mutational analysis | en |
dc.subject | Adolescent | en |
dc.subject | genetic analysis | en |
dc.subject | Registries | en |
dc.subject | DNA Mutational Analysis | en |
dc.subject | mucin 1 | en |
dc.subject | glomerulus filtration rate | en |
dc.subject | Phenotype | en |
dc.subject | Gene-Environment Interaction | en |
dc.subject | Aged, 80 and over | en |
dc.subject | Kidney Failure, Chronic | en |
dc.subject | Kidney | en |
dc.subject | Pedigree | en |
dc.subject | chromosome 1 | en |
dc.subject | genotyping technique | en |
dc.subject | medullary sponge kidney | en |
dc.subject | Mucin-1 | en |
dc.subject | Polycystic Kidney, Autosomal Dominant | en |
dc.subject | renin | en |
dc.subject | Tamm Horsfall glycoprotein | en |
dc.subject | variable number of tandem repeat | en |
dc.title | Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1 | en |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | 10.2215/CJN.06380613 | |
dc.description.volume | 9 | |
dc.description.startingpage | 527 | |
dc.description.endingpage | 535 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :15</p> | en |
dc.source.abbreviation | Clin.J.Am.Soc.Nephrol. | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 |
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