dc.contributor.author | Eckardt, K. -U | en |
dc.contributor.author | Alper, S. L. | en |
dc.contributor.author | Antignac, C. | en |
dc.contributor.author | Bleyer, A. J. | en |
dc.contributor.author | Chauveau, D. | en |
dc.contributor.author | Dahan, K. | en |
dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Hosking, A. | en |
dc.contributor.author | Kmoch, S. | en |
dc.contributor.author | Rampoldi, L. | en |
dc.contributor.author | Wiesener, M. | en |
dc.contributor.author | Wolf, M. T. | en |
dc.contributor.author | Devuyst, O. | en |
dc.creator | Eckardt, K. -U | en |
dc.creator | Alper, S. L. | en |
dc.creator | Antignac, C. | en |
dc.creator | Bleyer, A. J. | en |
dc.creator | Chauveau, D. | en |
dc.creator | Dahan, K. | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Hosking, A. | en |
dc.creator | Kmoch, S. | en |
dc.creator | Rampoldi, L. | en |
dc.creator | Wiesener, M. | en |
dc.creator | Wolf, M. T. | en |
dc.creator | Devuyst, O. | en |
dc.date.accessioned | 2019-11-04T12:50:32Z | |
dc.date.available | 2019-11-04T12:50:32Z | |
dc.date.issued | 2015 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53058 | |
dc.description.abstract | Rare 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.source | Kidney international | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84942986418&doi=10.1038%2fki.2015.28&partnerID=40&md5=86053717ea4ccca9c05dd28d4720da65 | |
dc.subject | hepatocyte nuclear factor-1β | el |
dc.subject | human | en |
dc.subject | Humans | en |
dc.subject | follow up | en |
dc.subject | Predictive Value of Tests | en |
dc.subject | priority journal | en |
dc.subject | treatment outcome | en |
dc.subject | genetic association | en |
dc.subject | Genetic Predisposition to Disease | en |
dc.subject | clinical feature | en |
dc.subject | Article | en |
dc.subject | practice guideline | en |
dc.subject | pathophysiology | en |
dc.subject | kidney disease | en |
dc.subject | phenotype | en |
dc.subject | genetic predisposition | en |
dc.subject | genetics | en |
dc.subject | kidney transplantation | en |
dc.subject | gene mutation | en |
dc.subject | classification | en |
dc.subject | diagnostic test | en |
dc.subject | predictive value | en |
dc.subject | mutation | en |
dc.subject | consensus development | en |
dc.subject | Kidney Diseases | en |
dc.subject | disease classification | en |
dc.subject | consensus | en |
dc.subject | mucin 1 | en |
dc.subject | treatment contraindication | en |
dc.subject | glomerulus filtration rate | en |
dc.subject | genetic screening | en |
dc.subject | genetic disorder | en |
dc.subject | dna mutational analysis | en |
dc.subject | genetic code | en |
dc.subject | Polycystic Kidney, Autosomal Dominant | en |
dc.subject | renin | en |
dc.subject | Tamm Horsfall glycoprotein | en |
dc.subject | gout | en |
dc.subject | hyperuricemia | en |
dc.subject | nephronophthisis | en |
dc.subject | autosomal dominant tubulointerstitial kidney disease | en |
dc.subject | deficiency | en |
dc.subject | hepatocyte nuclear factor 1beta | en |
dc.subject | HNF1B gene | en |
dc.subject | medical terminology | en |
dc.subject | medication therapy management | en |
dc.subject | MUC1 gene | en |
dc.subject | mucin-1 | en |
dc.subject | nephrology | en |
dc.subject | nomenclature | en |
dc.subject | preprorenin | en |
dc.subject | REN gene | en |
dc.subject | standards | en |
dc.subject | Terminology as Topic | en |
dc.subject | UMOD gene | en |
dc.subject | uromodulin | en |
dc.title | Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management - A KDIGO consensus report | en |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | 10.1038/ki.2015.28 | |
dc.description.volume | 88 | |
dc.description.startingpage | 676 | |
dc.description.endingpage | 683 | |
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 :41</p> | en |
dc.source.abbreviation | Kidney Int. | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 | |