{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T14:39:27Z","timestamp":1786372767406,"version":"build-2736575974"},"reference-count":46,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"crossref","award":["DK058816"],"award-info":[{"award-number":["DK058816"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"crossref","award":["DK059597"],"award-info":[{"award-number":["DK059597"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"crossref","award":["DK114786"],"award-info":[{"award-number":["DK114786"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100022939","name":"Zell Family Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100022939","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["CJASN"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:sec>\n                    <jats:title>Key Points<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>In a cohort of children, 79% of families with kidney cysts had a monogenic diagnosis.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Resolved cases were more likely to have a family history of kidney cysts and unresolved cases more often had unilateral cysts.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Broad genetic testing revealed genetic diversity and informed prognosis and clinical management in childhood kidney cysts.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Pediatric kidney cysts may indicate an underlying genetic disorder, yet the full spectrum of causes remains incompletely defined. With advances in genetic testing enabling broader evaluation, this study assessed the diagnostic utility of comprehensive genetic testing in a broad pediatric cohort with kidney cysts and characterized the underlying etiological diversity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This observational cohort study included patients younger than 18 years enrolled between January 2020 and June 2024 at a single tertiary center. Genetic testing used targeted multigene or custom curated exome\/genome sequencing panels, with segregation analysis when available. Eligible participants had at least two cysts without family history, one cyst with positive family history, or enlarged echogenic kidneys on prenatal ultrasound; those with congenital anomalies of the kidney and urinary tract associated with cysts were excluded. Clinical presentation was categorized as symptomatic, incidental, prenatal, or family screening. Primary outcomes were diagnostic yield and distribution of pathogenic variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Among 109 patients (median age 7.6 years, 53% female), genetic testing identified a definitive diagnosis in 81 of 100 tested patients (81%) from 72 families (79%; 14 disorders).\n                      <jats:italic toggle=\"yes\">PKD1<\/jats:italic>\n                      variants were most common (45%), while\n                      <jats:italic toggle=\"yes\">PKD2<\/jats:italic>\n                      accounted for 7%. Other causes included\n                      <jats:italic toggle=\"yes\">HNF1B<\/jats:italic>\n                      or 17q12 deletions (13%), minor autosomal dominant polycystic kidney disease genes (11%;\n                      <jats:italic toggle=\"yes\">GANAB, NEK8, IFT140<\/jats:italic>\n                      ), monoallelic\n                      <jats:italic toggle=\"yes\">PKHD1<\/jats:italic>\n                      (3%), and biallelic\n                      <jats:italic toggle=\"yes\">PKHD1<\/jats:italic>\n                      (8%), while syndromic ciliopathy genes accounted for 5%. A positive family history of cystic kidney disease was more common among patients with a genetic diagnosis (54% versus 11%;\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      = 0.008). Patients without an identified genetic diagnosis more often had unilateral cysts (26% versus 4%;\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      = 0.53). Diagnosis by clinical symptoms was the most genetically diverse category.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Comprehensive genetic testing in pediatric kidney cysts achieved high diagnostic yield in a selected cohort and identified diverse causes beyond major autosomal dominant polycystic kidney disease\/autosomal recessive polycystic kidney disease genes, supporting early evaluation to improve diagnostic accuracy, inform prognosis, and guide management, even in the absence of family history.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.2215\/cjn.0000001027","type":"journal-article","created":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T17:01:19Z","timestamp":1772816479000},"page":"984-996","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Monogenic Etiologies of Kidney Cysts in the Pediatric Population"],"prefix":"10.2215","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4249-4331","authenticated-orcid":false,"given":"Elif G.","family":"Bozkurt","sequence":"first","affiliation":[{"name":"Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"},{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"},{"name":"Department of Medical and Molecular Genetics and Genomics and Pediatrics, Indiana University, Indianapolis, Indiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad","family":"Sheikh Najeeb","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"},{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, 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Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4869-434X","authenticated-orcid":false,"given":"David J.","family":"Sas","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"},{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-5541-0085","authenticated-orcid":false,"given":"Carl H.","family":"Cramer","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"},{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5809-9961","authenticated-orcid":false,"given":"Neera 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