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Due to advances in genetic diagnosis, ADTKD is becoming increasingly recognized as a cause of CKD. Pathogenic variants in\n                    <jats:italic>UMOD<\/jats:italic>\n                    ,\n                    <jats:italic>MUC1<\/jats:italic>\n                    , and\n                    <jats:italic>REN<\/jats:italic>\n                    are the most common causes of ADTKD. ADTKD\u2010\n                    <jats:italic>UMOD<\/jats:italic>\n                    is also associated with hyperuricemia and gout. ADTKD\u2010\n                    <jats:italic>REN<\/jats:italic>\n                    often presents in childhood with mild hypotension, CKD, hyperkalemia, acidosis, and anemia. ADTKD\u2010\n                    <jats:italic>MUC1<\/jats:italic>\n                    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.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.c.32008","type":"journal-article","created":{"date-parts":[[2022,10,17]],"date-time":"2022-10-17T04:39:30Z","timestamp":1665981570000},"page":"309-324","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Autosomal dominant tubulointerstitial kidney disease: A review"],"prefix":"10.1002","volume":"190","author":[{"given":"Martina","family":"\u017divn\u00e1","sequence":"first","affiliation":[{"name":"Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kendrah O.","family":"Kidd","sequence":"additional","affiliation":[{"name":"Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University  Prague Czech Republic"},{"name":"Wake Forest University School of Medicine Section on Nephrology  Winston\u2010Salem North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Bare\u0161ov\u00e1","sequence":"additional","affiliation":[{"name":"Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"H\u016flkov\u00e1","sequence":"additional","affiliation":[{"name":"Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislav","family":"Kmoch","sequence":"additional","affiliation":[{"name":"Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University  Prague Czech Republic"},{"name":"Wake Forest University School of Medicine Section on Nephrology  Winston\u2010Salem North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2804-5273","authenticated-orcid":false,"suffix":"Sr","given":"Anthony J.","family":"Bleyer","sequence":"additional","affiliation":[{"name":"Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University  Prague Czech Republic"},{"name":"Wake Forest University School of Medicine Section on Nephrology  Winston\u2010Salem North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,10,17]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2008060633"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.11070821"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1183\/16000617.0149-2020"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-140-7-200404060-00009"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2006.00481.x"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-022-01131-x"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000522226"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.5414\/CN109842"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0617-8"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ackd.2016.11.012"},{"key":"e_1_2_11_12_1","unstructured":"Bleyer A. 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