{"id":"https://openalex.org/W4415434359","doi":"https://doi.org/10.1093/ndt/gfaf116.1060","title":"#3541 Twelve years of genetic studies in polycystic kidney disease: a descriptive review in a tertiary center","display_name":"#3541 Twelve years of genetic studies in polycystic kidney disease: a descriptive review in a tertiary center","publication_year":2025,"publication_date":"2025-10-01","ids":{"openalex":"https://openalex.org/W4415434359","doi":"https://doi.org/10.1093/ndt/gfaf116.1060"},"language":"en","primary_location":{"id":"doi:10.1093/ndt/gfaf116.1060","doi":"https://doi.org/10.1093/ndt/gfaf116.1060","is_oa":false,"landing_page_url":"https://doi.org/10.1093/ndt/gfaf116.1060","pdf_url":null,"source":{"id":"https://openalex.org/S186113128","display_name":"Nephrology Dialysis Transplantation","issn_l":"0931-0509","issn":["0931-0509","1460-2385"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nephrology Dialysis Transplantation","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5098770044","display_name":"Cristina Garc\u00eda Parejo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158107","display_name":"Hospital Universitario R\u00edo Hortega","ror":"https://ror.org/05jk45963","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158107"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Cristina Garc\u00eda Parejo","raw_affiliation_strings":["Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,","institution_ids":["https://openalex.org/I4210158107"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100593914","display_name":"Mar\u00eda Ver\u00f3nica Torres","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158107","display_name":"Hospital Universitario R\u00edo Hortega","ror":"https://ror.org/05jk45963","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158107"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Mar\u00eda Ver\u00f3nica Torres","raw_affiliation_strings":["Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,","institution_ids":["https://openalex.org/I4210158107"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5094224572","display_name":"Nathalie Mart\u00ednez Tejeda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158107","display_name":"Hospital Universitario R\u00edo Hortega","ror":"https://ror.org/05jk45963","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158107"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Nathalie Mart\u00ednez Tejeda","raw_affiliation_strings":["Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,","institution_ids":["https://openalex.org/I4210158107"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059655739","display_name":"Jos\u00e9 Antonio Garrote","orcid":"https://orcid.org/0000-0003-1797-6520","observed_orcids":["https://orcid.org/0000-0003-1797-6520"]},"institutions":[{"id":"https://openalex.org/I4210158107","display_name":"Hospital Universitario R\u00edo Hortega","ror":"https://ror.org/05jk45963","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158107"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Jos\u00e9 Antonio Garrote Adrados","raw_affiliation_strings":["Valladolid, Spain Hospital Universitario R\u00edo Hortega, Genetics Department,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Valladolid, Spain Hospital Universitario R\u00edo Hortega, Genetics Department,","institution_ids":["https://openalex.org/I4210158107"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113224896","display_name":"Blanca Mart\u00edn \u00c1lvarez","orcid":"https://orcid.org/0009-0001-2231-8533","observed_orcids":["https://orcid.org/0009-0001-2231-8533"]},"institutions":[{"id":"https://openalex.org/I4210158107","display_name":"Hospital Universitario R\u00edo Hortega","ror":"https://ror.org/05jk45963","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158107"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Blanca Mart\u00edn \u00c1lvarez","raw_affiliation_strings":["Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,","institution_ids":["https://openalex.org/I4210158107"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109722983","display_name":"Fernando Mart\u00edn Caballero","orcid":"https://orcid.org/0009-0003-0646-261X","observed_orcids":["https://orcid.org/0009-0003-0646-261X"]},"institutions":[{"id":"https://openalex.org/I4210158107","display_name":"Hospital Universitario R\u00edo Hortega","ror":"https://ror.org/05jk45963","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158107"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Fernando Mart\u00edn Caballero","raw_affiliation_strings":["Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,","institution_ids":["https://openalex.org/I4210158107"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5098770045","display_name":"\u00c1ngela Eraso N\u00e1jera","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158107","display_name":"Hospital Universitario R\u00edo Hortega","ror":"https://ror.org/05jk45963","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158107"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"\u00c1ngela Eraso N\u00e1jera","raw_affiliation_strings":["Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,","institution_ids":["https://openalex.org/I4210158107"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111209279","display_name":"Luisa Gemma S\u00e1nchez Garc\u00eda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158107","display_name":"Hospital Universitario R\u00edo Hortega","ror":"https://ror.org/05jk45963","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158107"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Luisa Gemma S\u00e1nchez Garc\u00eda","raw_affiliation_strings":["Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,","institution_ids":["https://openalex.org/I4210158107"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056207569","display_name":"Margarita Delgado Cer\u00f3n","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158107","display_name":"Hospital Universitario R\u00edo Hortega","ror":"https://ror.org/05jk45963","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158107"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Margarita Delgado Cer\u00f3n","raw_affiliation_strings":["Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,","institution_ids":["https://openalex.org/I4210158107"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086837043","display_name":"S. \u00c1lvarez Tundidor","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158107","display_name":"Hospital Universitario R\u00edo Hortega","ror":"https://ror.org/05jk45963","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158107"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Sara \u00c1lvarez Tundidor","raw_affiliation_strings":["Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,","institution_ids":["https://openalex.org/I4210158107"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5094224571","display_name":"Danay Areli Ticona Espinoza","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158107","display_name":"Hospital Universitario R\u00edo Hortega","ror":"https://ror.org/05jk45963","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158107"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Danay Areli Ticona Espinoza","raw_affiliation_strings":["Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,","institution_ids":["https://openalex.org/I4210158107"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5061926257","display_name":"Bel\u00e9n G\u00f3mez Giralda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158107","display_name":"Hospital Universitario R\u00edo Hortega","ror":"https://ror.org/05jk45963","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158107"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Bel\u00e9n G\u00f3mez Giralda","raw_affiliation_strings":["Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Valladolid, Spain Hospital Universitario R\u00edo Hortega, Nephrology Department,","institution_ids":["https://openalex.org/I4210158107"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210158107"],"apc_list":{"value":3474,"currency":"EUR","value_usd":3926},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"40","issue":"Supplement_3","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12049","display_name":"Tuberous Sclerosis Complex Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/polycystic-kidney-disease","display_name":"polycystic kidney disease","score":0.9980000257492065},{"id":"https://openalex.org/keywords/autosomal-dominant-pkd","display_name":"autosomal dominant PKD","score":0.9409999847412109},{"id":"https://openalex.org/keywords/pkd1-mutations","display_name":"PKD1 mutations","score":0.9589999914169312},{"id":"https://openalex.org/keywords/pkd2-mutations","display_name":"PKD2 mutations","score":1.0},{"id":"https://openalex.org/keywords/ganab","display_name":"GANAB","score":0.8029999732971191},{"id":"https://openalex.org/keywords/dnajb11","display_name":"DNAJB11","score":0.9959999918937683},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9819999933242798},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.5600000023841858},{"id":"https://openalex.org/keywords/cardiovascular-risk-factors","display_name":"cardiovascular risk factors","score":0.6660000085830688},{"id":"https://openalex.org/keywords/hypertension","display_name":"hypertension","score":0.8360000252723694},{"id":"https://openalex.org/keywords/end-stage-renal-disease","display_name":"end-stage renal disease","score":0.7630000114440918},{"id":"https://openalex.org/keywords/renal-cysts","display_name":"renal cysts","score":0.5429999828338623},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.4580000042915344},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.41499999165534973},{"id":"https://openalex.org/keywords/hereditary-nephropathy","display_name":"hereditary nephropathy","score":0.5740000009536743}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9218999743461609},{"id":"https://openalex.org/C2776266639","wikidata":"https://www.wikidata.org/wiki/Q2732398","display_name":"Autosomal dominant polycystic kidney disease","level":3,"score":0.5936999917030334},{"id":"https://openalex.org/C54847362","wikidata":"https://www.wikidata.org/wiki/Q177635","display_name":"Nephrology","level":2,"score":0.5365999937057495},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5108000040054321},{"id":"https://openalex.org/C2780145431","wikidata":"https://www.wikidata.org/wiki/Q15443105","display_name":"Polycystic kidney disease","level":3,"score":0.49939998984336853},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.4932999908924103},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.4803999960422516},{"id":"https://openalex.org/C119060515","wikidata":"https://www.wikidata.org/wiki/Q1916617","display_name":"Interquartile range","level":2,"score":0.4675000011920929},{"id":"https://openalex.org/C167135981","wikidata":"https://www.wikidata.org/wiki/Q2146302","display_name":"Retrospective cohort study","level":2,"score":0.46050000190734863},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.44839999079704285},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.4465000033378601},{"id":"https://openalex.org/C23131810","wikidata":"https://www.wikidata.org/wiki/Q818574","display_name":"Observational study","level":2,"score":0.4350000023841858},{"id":"https://openalex.org/C100773827","wikidata":"https://www.wikidata.org/wiki/Q82302467","display_name":"PKD1","level":4,"score":0.43290001153945923},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4187999963760376},{"id":"https://openalex.org/C2909884793","wikidata":"https://www.wikidata.org/wiki/Q1054718","display_name":"Kidney disorder","level":3,"score":0.3912999927997589},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.39079999923706055},{"id":"https://openalex.org/C3020110884","wikidata":"https://www.wikidata.org/wiki/Q695416","display_name":"Outpatient clinic","level":2,"score":0.36649999022483826},{"id":"https://openalex.org/C2778653478","wikidata":"https://www.wikidata.org/wiki/Q1054718","display_name":"Kidney disease","level":2,"score":0.35839998722076416},{"id":"https://openalex.org/C2780073493","wikidata":"https://www.wikidata.org/wiki/Q7523837","display_name":"Single Center","level":2,"score":0.34299999475479126},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.32710000872612},{"id":"https://openalex.org/C2781184683","wikidata":"https://www.wikidata.org/wiki/Q1054718","display_name":"Nephropathy","level":3,"score":0.3125999867916107},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.29820001125335693},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.2953000068664551},{"id":"https://openalex.org/C204315192","wikidata":"https://www.wikidata.org/wiki/Q210506","display_name":"Molecular genetics","level":3,"score":0.29330000281333923},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.27880001068115234},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.27799999713897705},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.26600000262260437},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.26260000467300415},{"id":"https://openalex.org/C2780337666","wikidata":"https://www.wikidata.org/wiki/Q5201211","display_name":"Cystic kidney disease","level":3,"score":0.25839999318122864},{"id":"https://openalex.org/C107130276","wikidata":"https://www.wikidata.org/wiki/Q133805","display_name":"Epidemiology","level":2,"score":0.251800000667572}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1093/ndt/gfaf116.1060","doi":"https://doi.org/10.1093/ndt/gfaf116.1060","is_oa":false,"landing_page_url":"https://doi.org/10.1093/ndt/gfaf116.1060","pdf_url":null,"source":{"id":"https://openalex.org/S186113128","display_name":"Nephrology Dialysis Transplantation","issn_l":"0931-0509","issn":["0931-0509","1460-2385"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nephrology Dialysis Transplantation","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4403831378","https://openalex.org/W4398235812","https://openalex.org/W4403832092","https://openalex.org/W4415423325","https://openalex.org/W4398756059","https://openalex.org/W4380626324","https://openalex.org/W4415434261","https://openalex.org/W4387985540","https://openalex.org/W4387073206","https://openalex.org/W4380085452"],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"and":[2,41,43,61,75,81,99,124,161,170,185,200,215,224,240,321,358,404,538,571],"Aims":[3],"Polycystic":[4],"kidney":[5,424],"disease":[6,305,575],"(PKD)":[7],"is":[8,25,64,325,514],"a":[9,119,138,255,374,427,456,494],"hereditary":[10],"nephropathy":[11],"characterized":[12],"by":[13,37,131,193,230,294],"progressive":[14],"renal":[15,22,301,397,403],"cyst":[16],"formation,":[17],"often":[18],"leading":[19],"to":[20,51,189,365,421,463,566],"end-stage":[21],"disease.":[23],"It":[24],"classified":[26,461],"into":[27],"two":[28],"main":[29],"forms:":[30],"autosomal":[31,46],"dominant":[32],"PKD":[33,48,92],"(ADPKD),":[34],"primarily":[35],"caused":[36],"mutations":[38,339],"in":[39,84,96,157,234,308,340,345,352,362,380,504,526,557,574],"PKD1":[40,342,370,537],"PKD2,":[42],"the":[44,66,114,142,152,158,171,177,182,190,194,267,287,309,314,323,328,341,346,381,388,438,464,490,499,505,518,527,541,553,561],"rarer":[45],"recessive":[47],"(ARPKD),":[49],"linked":[50],"PKHD1":[52],"mutations.":[53],"Other":[54],"less":[55],"frequent":[56],"genes":[57,354,363,523,559],"involved":[58],"are":[59,540],"GANAB":[60],"DNAJB11.":[62],"ADPKD":[63,357,439],"among":[65],"most":[67,288,542],"prevalent":[68],"monogenic":[69],"disorders":[70],"worldwide,":[71],"yet":[72],"its":[73],"genetic":[74,147,167,315,331,458,496,502],"phenotypic":[76],"variability":[77],"complicates":[78],"diagnosis,":[79],"prognosis,":[80],"treatment.":[82],"Advances":[83],"molecular":[85],"diagnostics":[86],"have":[87],"expanded":[88],"our":[89],"understanding":[90],"of":[91,118,141,151,197,249,258,266,300,313,430,489,501,507,511,521,530,555],"genetics,":[93],"highlighting":[94,498],"gaps":[95],"genotype-phenotype":[97],"correlations":[98],"potential":[100,572],"therapeutic":[101],"targets.":[102],"Method":[103],"A":[104,247],"retrospective":[105],"observational":[106],"study":[107,168,459],"was":[108,228,286,441],"conducted":[109],"on":[110,134,181,435,550],"patients":[111,251,268,368,378,414,454,492],"treated":[112],"at":[113,270],"Nephrology":[115],"outpatient":[116],"clinic":[117],"tertiary":[120],"center":[121],"between":[122],"2012":[123],"2024.":[125],"Patients":[126],"with":[127,236,254,356,369,387,426,455,547],"suspected":[128],"PKD,":[129],"defined":[130],"suggestive":[132],"findings":[133,534],"imaging":[135,419],"studies":[136,316,565],"or":[137,303,524],"family":[139],"history":[140],"disease,":[143,282],"who":[144],"had":[145,269,338,360,373,396,401,408,493],"undergone":[146],"testing":[148,503],"as":[149,213,222,335],"part":[150],"diagnostic":[153],"process,":[154],"were":[155,164,174,204,211,220,252,263,306,333,460],"included":[156,379],"study.":[159],"Demographic":[160],"clinical":[162,244,569],"data":[163,237,483],"collected.":[165],"The":[166,509],"performed":[169],"results":[172,513],"obtained":[173],"recorded,":[175],"classifying":[176],"identified":[178,307],"variants":[179,556],"based":[180,434],"affected":[183],"gene":[184],"their":[186,568],"pathogenicity":[187],"according":[188,462],"criteria":[191],"established":[192],"American":[195],"College":[196],"Medical":[198],"Genetics":[199],"Genomics":[201],"(ACMG).":[202],"Data":[203],"analyzed":[205,491],"using":[206],"descriptive":[207],"statistics.":[208],"Categorical":[209],"variables":[210,219],"expressed":[212],"frequencies":[214],"percentages,":[216],"while":[217],"continuous":[218],"presented":[221],"median":[223,256,428],"interquartile":[225],"range.":[226],"Confidentiality":[227],"ensured":[229],"anonymizing":[231],"patient":[232],"data,":[233],"compliance":[235],"protection":[238],"regulations":[239],"ethical":[241],"principles":[242],"for":[243,563],"research.":[245],"Results":[246],"total":[248,423],"80":[250],"analyzed,":[253],"age":[257],"51":[259],"years":[260],"[15\u221282],":[261],"57.5%":[262],"men.":[264],"70%":[265],"least":[271],"one":[272],"cardiovascular":[273],"risk":[274,290],"(hypertension,":[275],"diabetes":[276,295],"mellitus,":[277],"dyslipidemia,":[278],"obesity,":[279],"ischemic":[280],"heart":[281],"smoking,":[283],"hyperuricemia).":[284],"Hypertension":[285],"common":[289],"factor":[291],"(65%),":[292],"followed":[293],"(10%).":[296],"No":[297],"other":[298,353,558],"cases":[299],"pathology":[302],"obstructive":[304],"studied":[310],"cohort.":[311],"66.3%":[312],"tested":[317],"positive,":[318],"32.5%":[319],"negative":[320,512],"1.3%":[322,391],"result":[324],"pending.":[326],"Among":[327,367],"positive":[329,457,495],"cases,":[330],"alterations":[332,351,361],"distributed":[334],"follows:":[336],"31.3%":[337],"gene,":[343,348],"22.5%":[344],"PKD2":[347,539],"7.5%":[349],"showed":[350,392],"associated":[355],"2.5%":[359],"unrelated":[364],"ADPKD.":[366,551],"mutations,":[371],"59.26%":[372],"truncating":[375],"mutation.":[376],"All":[377],"analysis":[382],"underwent":[383,415],"an":[384],"abdominal":[385,416],"ultrasound,":[386],"following":[389],"findings:":[390],"no":[393],"abnormalities,":[394],"36.3%":[395],"involvement":[398,410],"only,":[399],"58.8%":[400],"both":[402],"hepatic":[405,409],"involvement,":[406],"3.8%":[407],"only.":[411],"Additionally,":[412,453],"18":[413],"magnetic":[417],"resonance":[418],"(MRI)":[420],"calculate":[422],"volume,":[425],"value":[429],"1096.4":[431],"mL":[432],"[422.1\u22125068.6];":[433],"this":[436],"measurement,":[437],"classification":[440],"determined":[442],"(1A:":[443],"5.26%,":[444],"1B:":[445],"21.05%,":[446],"1C:":[447],"31.58%,":[448],"1D:":[449],"36.84%,":[450],"1E:":[451],"5.26%).":[452],"PROPKD":[465],"Score":[466],"(0:":[467],"28.85%,":[468,470],"1:":[469],"2:":[471],"3.85%,":[472],"3:":[473],"7.69%,":[474],"4:":[475],"13.46%,":[476],"5:":[477],"15.38%,":[478],"6:":[479],"1.92%).":[480],"Conclusion":[481],"These":[482,533],"show":[484],"that":[485,536],"more":[486],"than":[487],"half":[488],"variant,":[497],"importance":[500],"diagnosis":[506],"PKD.":[508],"proportion":[510],"also":[515],"significant,":[516],"suggesting":[517],"possible":[519],"influence":[520],"unidentified":[522],"limitations":[525],"detection":[528,554],"capacity":[529],"certain":[531],"variants.":[532],"confirm":[535],"frequently":[543],"altered":[544],"genes,":[545],"consistent":[546],"existing":[548],"literature":[549],"However,":[552],"underscores":[560],"need":[562],"further":[564],"evaluate":[567],"impact":[570],"role":[573],"progression.":[576]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2025-10-24T00:00:00"}
