{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T09:18:28Z","timestamp":1790068708379,"version":"4.0.1"},"reference-count":59,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2021,9,14]],"date-time":"2021-09-14T00:00:00Z","timestamp":1631577600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Early Post-doc Mobility Stipendium of the Swiss National Science Foundation","award":["P2ZHP3_195181"],"award-info":[{"award-number":["P2ZHP3_195181"]}]},{"DOI":"10.13039\/501100000291","name":"Kidney Research UK","doi-asserted-by":"publisher","award":["Paed_RP_001_20180925"],"award-info":[{"award-number":["Paed_RP_001_20180925"]}],"id":[{"id":"10.13039\/501100000291","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Medical Research Council Clinical Doctoral Training Fellow"},{"name":"Kidney Research UK and the Northern Counties Kidney Research Fund"},{"name":"Genomics England Limited"},{"name":"National Institute for Health Research and NHS England"},{"name":"The Wellcome Trust, Cancer Research UK"},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Health Service"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,2,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a clinical entity defined by interstitial fibrosis with tubular damage, bland urinalysis and progressive kidney disease. Mutations in UMOD and MUC1 are the most common causes of ADTKD but other rarer (REN, SEC61A1), atypical (DNAJB11) or heterogeneous (HNF1B) subtypes have been described. Raised awareness, as well as the implementation of next-generation sequencing approaches, have led to a sharp increase in reported cases. ADTKD is now believed to be one of the most common monogenic forms of kidney disease and overall it probably accounts for \u223c5% of all monogenic causes of chronic kidney disease. Through international efforts and systematic analyses of patient cohorts, critical insights into clinical and genetic spectra of ADTKD, genotype\u2013phenotype correlations as well as innovative diagnostic approaches have been amassed during recent years. In addition, intense research efforts are addressed towards deciphering and rescuing the cellular pathways activated in ADTKD. A better understanding of these diseases and of possible commonalities with more common causes of kidney disease may be relevant to understand and target mechanisms leading to fibrotic kidney disease in general. Here we highlight recent advances in our understanding of the different subtypes of ADTKD with an emphasis on the molecular underpinnings and its clinical presentations.<\/jats:p>","DOI":"10.1093\/ndt\/gfab268","type":"journal-article","created":{"date-parts":[[2021,9,9]],"date-time":"2021-09-09T23:14:00Z","timestamp":1631229240000},"page":"271-282","source":"Crossref","is-referenced-by-count":42,"title":["Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease"],"prefix":"10.1093","volume":"38","author":[{"given":"Holly","family":"Mabillard","sequence":"first","affiliation":[{"name":"Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University , Newcastle upon Tyne, UK"},{"name":"Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A","family":"Sayer","sequence":"additional","affiliation":[{"name":"Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University , Newcastle upon Tyne, UK"},{"name":"Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne, UK"},{"name":"NIHR Newcastle Biomedical Research Centre , Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1178-7980","authenticated-orcid":false,"given":"Eric","family":"Olinger","sequence":"additional","affiliation":[{"name":"Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University , Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,9,14]]},"reference":[{"key":"2023021311121106200_gfab268-B1","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/ki.2015.28","article-title":"Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and 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