dc.contributor.author | Živná, Martina | |
dc.contributor.author | Kidd, Kendrah Osborne | |
dc.contributor.author | Barešová, Veronika | |
dc.contributor.author | Hůlková, Helena | |
dc.contributor.author | Kmoch, Stanislav | |
dc.contributor.author | Bleyer, Anthony | |
dc.date.issued | 2022 | |
dc.identifier.uri | https://hdl.handle.net/20.500.14178/1696 | |
dc.description.abstract | The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD) include bland urinary sediment, slowly progressive chronic kidney disease (CKD) with many patients reaching end stage renal disease (ESRD) between age 20 and 70 years, and autosomal dominant inheritance. Due to advances in genetic diagnosis, ADTKD is becoming increasingly recognized as a cause of CKD. Pathogenic variants in UMOD, MUC1, and REN are the most common causes of ADTKD. ADTKD-UMOD is also associated with hyperuricemia and gout. ADTKD-REN often presents in childhood with mild hypotension, CKD, hyperkalemia, acidosis, and anemia. ADTKD-MUC1 patients present only with CKD. This review describes the pathophysiology, genetics, clinical manifestation, and diagnosis for ADTKD, with an emphasis on genetic testing and genetic counseling suggestions for patients. | en |
dc.language.iso | en | |
dc.relation.url | https://doi.org/10.1002/ajmg.c.32008 | |
dc.rights | Creative Commons Uveďte původ-Neužívejte dílo komerčně-Nezpracovávejte 4.0 International | cs |
dc.rights | Creative Commons Attribution-NonCommercial-NoDerivativeWorks 4.0 International | en |
dc.title | Autosomal dominant tubulointerstitial kidney disease: A review | en |
dcterms.accessRights | openAccess | |
dcterms.license | https://creativecommons.org/licenses/by-nc-nd/4.0/legalcode | |
dc.date.updated | 2023-10-02T06:12:53Z | |
dc.subject.keyword | Autosomal Dominant Tubulointerstitial Kidney Disease | en |
dc.subject.keyword | MUC1 | en |
dc.subject.keyword | UMOD | en |
dc.subject.keyword | REN | en |
dc.subject.keyword | | en |
dc.relation.fundingReference | info:eu-repo/grantAgreement/MZ0/NU/NU21-07-00033 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/MSM/LT/LTAUSA19068 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/UK/UNCE/MED/UNCE/MED/007 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/MSM//LX22NPO5104 | |
dc.date.embargoStartDate | 2023-10-02 | |
dc.type.obd | 73 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | |
dc.identifier.doi | 10.1002/ajmg.c.32008 | |
dc.identifier.utWos | 000868552600001 | |
dc.identifier.eidScopus | 2-s2.0-85139913854 | |
dc.identifier.obd | 617342 | |
dc.identifier.riv | RIV/00216208:11110/22:10449683 | |
dc.identifier.pubmed | 36250282 | |
dc.subject.rivPrimary | 30000::30100::30101 | |
dcterms.isPartOf.name | American Journal of Medical Genetics: Part C, Seminars in Medical Genetics | |
dcterms.isPartOf.issn | 1552-4868 | |
dcterms.isPartOf.journalYear | 2022 | |
dcterms.isPartOf.journalVolume | 190 | |
dcterms.isPartOf.journalIssue | 3 | |
uk.faculty.primaryId | 108 | |
uk.faculty.primaryName | 1. lékařská fakulta | cs |
uk.faculty.primaryName | First Faculty of Medicine | en |
uk.department.primaryId | 1522 | |
uk.department.primaryName | Klinika pediatrie a dědičných poruch metabolismu 1. LF a VFN | cs |
uk.department.primaryName | Department of Paediatrics and Inherited Metabolic Disorders 1. LF UK a VFN | en |
dc.description.pageRange | 309-324 | |
dc.type.obdHierarchyCs | ČLÁNEK V ČASOPISU::článek v časopisu::přehledový článek | cs |
dc.type.obdHierarchyEn | JOURNAL ARTICLE::journal article::summarizing article | en |
dc.type.obdHierarchyCode | 73::152::205 | en |
uk.displayTitle | Autosomal dominant tubulointerstitial kidney disease: A review | en |