{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T20:23:12Z","timestamp":1793046192891,"version":"4.5.0"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2021,2,3]],"date-time":"2021-02-03T00:00:00Z","timestamp":1612310400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI15\/01824, PI16\/01998, PI18\/00362, PI19\/01633, RETIC REDINREN RD16\/0009\/0019"],"award-info":[{"award-number":["PI15\/01824, PI16\/01998, PI18\/00362, PI19\/01633, RETIC REDINREN RD16\/0009\/0019"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["Plataforma ISCIII Biobancos PT20\/00196"],"award-info":[{"award-number":["Plataforma ISCIII Biobancos PT20\/00196"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,3,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Inherited kidney diseases are one of the leading causes of chronic kidney disease (CKD) that manifests before the age of 30\u2009years. Precise clinical diagnosis of early-onset CKD is complicated due to the high phenotypic overlap, but genetic testing is a powerful diagnostic tool. We aimed to develop a genetic testing strategy to maximize the diagnostic yield for patients presenting with early-onset CKD and to determine the prevalence of the main causative genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed genetic testing of 460 patients with early-onset CKD of suspected monogenic cause using next-generation sequencing of a custom-designed kidney disease gene panel in addition to targeted screening for c.428dupC MUC1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We achieved a global diagnostic yield of 65% (300\/460), which varied depending on the clinical diagnostic group: 77% in cystic kidney diseases, 76% in tubulopathies, 67% in autosomal dominant tubulointerstitial kidney disease, 61% in glomerulopathies and 38% in congenital anomalies of the kidney and urinary tract. Among the 300 genetically diagnosed patients, the clinical diagnosis was confirmed in 77%, a specific diagnosis within a clinical diagnostic group was identified in 15%, and 7% of cases were reclassified. Of the 64 causative genes identified in our cohort, 7 (COL4A3, COL4A4, COL4A5, HNF1B, PKD1, PKD2 and PKHD1) accounted for 66% (198\/300) of the genetically diagnosed patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Two-thirds of patients with early-onset CKD in this cohort had a genetic cause. Just seven genes were responsible for the majority of diagnoses. Establishing a genetic diagnosis is crucial to define the precise aetiology of CKD, which allows accurate genetic counselling and improved patient management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ndt\/gfab019","type":"journal-article","created":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T15:53:41Z","timestamp":1611849221000},"page":"687-696","source":"Crossref","is-referenced-by-count":108,"title":["Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players"],"prefix":"10.1093","volume":"37","author":[{"given":"Andrea","family":"Domingo-Gallego","sequence":"first","affiliation":[{"name":"Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"},{"name":"Department of Nephrology, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, Medicine Department, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Pybus","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"},{"name":"Department of Nephrology, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, Medicine Department, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gemma","family":"Bullich","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"},{"name":"Centre Nacional d\u2019An\u00e0lisi Gen\u00f2mica (CNAG) \u2013 Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Furlano","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, Medicine Department, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laia","family":"Ejarque-Vila","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Lorente-Grandoso","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Ruiz","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria","family":"Fraga","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Hospital de la Santa Creu i Sant Pau, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"L\u00f3pez Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Hospital Vall d\u2019Hebron, Universitat Aut\u00f2noma de Barcelona, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Alberto","family":"Pi\u00f1ero-Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Pediatrics Service, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca, Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Rodr\u00edguez-Pe\u00f1a","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Pediatrics Service, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca, Centre for Biomedical Research on Rare Diseases (CIBERER), Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Llano-Rivas","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Universitario Cruces, Biocruces Health Research Institute, Centre for Biomedical Research on Rare Diseases (CIBERER), Barakaldo-Bizkaia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"S\u00e1ez","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Donostia, San Sebastian, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Bujons-Tur","sequence":"additional","affiliation":[{"name":"Department of Urology, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, Catalonia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gema","family":"Ariceta","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Hospital Vall d\u2019Hebron, Universitat Aut\u00f2noma de Barcelona, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lluis","family":"Guirado","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, Medicine Department, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8714-2332","authenticated-orcid":false,"given":"Roser","family":"Torra","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, Medicine Department, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabet","family":"Ars","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, REDinREN, Instituto de Investigaci\u00f3n Carlos III, Barcelona, Spain"},{"name":"Department of Nephrology, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), 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