{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T20:48:15Z","timestamp":1786135695763,"version":"build-2736575974"},"reference-count":78,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R01-DK080099"],"award-info":[{"award-number":["R01-DK080099"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["U54-DK104309"],"award-info":[{"award-number":["U54-DK104309"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R21-DK119802"],"award-info":[{"award-number":["R21-DK119802"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["JASN"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:sec>\n                    <jats:title>Significance Statement<\/jats:title>\n                    <jats:p>Pathogenic structural genetic variants, also known as genomic disorders, have been associated with pediatric CKD. This study extends those results across the lifespan, with genomic disorders enriched in both pediatric and adult patients compared with controls. In the Chronic Renal Insufficiency Cohort study, genomic disorders were also associated with lower serum Mg, lower educational performance, and a higher risk of death. A phenome-wide association study confirmed the link between kidney disease and genomic disorders in an unbiased way. Systematic detection of genomic disorders can provide a molecular diagnosis and refine prediction of risk and prognosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Genomic disorders (GDs) are associated with many comorbid outcomes, including CKD. Identification of GDs has diagnostic utility.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We examined the prevalence of GDs among participants in the Chronic Kidney Disease in Children (CKiD) cohort II (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =248), Chronic Renal Insufficiency Cohort (CRIC) study (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =3375), Columbia University CKD Biobank (CU-CKD;\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =1986), and the Family Investigation of Nephropathy and Diabetes (FIND;\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =1318) compared with 30,746 controls. We also performed a phenome-wide association analysis (PheWAS) of GDs in the electronic MEdical Records and GEnomics (eMERGE;\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =11,146) cohort.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We found nine out of 248 (3.6%) CKiD II participants carried a GD, replicating prior findings in pediatric CKD. We also identified GDs in 72 out of 6679 (1.1%) adult patients with CKD in the CRIC, CU-CKD, and FIND cohorts, compared with 199 out of 30,746 (0.65%) GDs in controls (OR, 1.7; 95% CI, 1.3 to 2.2). Among adults with CKD, we found recurrent GDs at the 1q21.1, 16p11.2, 17q12, and 22q11.2 loci. The 17q12 GD (diagnostic of renal cyst and diabetes syndrome) was most frequent, present in 1:252 patients with CKD and diabetes. In the PheWAS, dialysis and neuropsychiatric phenotypes were the top associations with GDs. In CRIC participants, GDs were associated with lower serum magnesium, lower educational achievement, and higher mortality risk.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Undiagnosed GDs are detected both in children and adults with CKD. Identification of GDs in these patients can enable a precise genetic diagnosis, inform prognosis, and help stratify risk in clinical studies. GDs could also provide a molecular explanation for nephropathy and comorbidities, such as poorer neurocognition for a subset of patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Podcast<\/jats:title>\n                    <jats:p>This article contains a podcast at https:\/\/dts.podtrac.com\/redirect.mp3\/www.asn-online.org\/media\/podcast\/JASN\/2023_04_03_JASN2022060725.mp3<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.2022060725","type":"journal-article","created":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T16:05:37Z","timestamp":1666886737000},"page":"607-618","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":23,"title":["Genomic Disorders in CKD across the Lifespan"],"prefix":"10.1681","volume":"34","author":[{"given":"Miguel","family":"Verbitsky","sequence":"first","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Columbia University, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarathbabu","family":"Krishnamurthy","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Columbia University, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya","family":"Krithivasan","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Columbia University, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Hughes","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine, Columbia University Medical Center, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atlas","family":"Khan","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Columbia University, New York, New 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