{"id":"https://openalex.org/W7212377407","doi":"https://doi.org/10.1016/j.xkme.2026.101533","title":"Kidney Pathology of Megalin Deficiency in Adulthood","display_name":"Kidney Pathology of Megalin Deficiency in Adulthood","publication_year":2026,"publication_date":"2026-09-12","ids":{"openalex":"https://openalex.org/W7212377407","doi":"https://doi.org/10.1016/j.xkme.2026.101533","pmid":"https://pubmed.ncbi.nlm.nih.gov/42936474","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13697820"},"language":"en","primary_location":{"id":"doi:10.1016/j.xkme.2026.101533","doi":"https://doi.org/10.1016/j.xkme.2026.101533","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.xkme.2026.101533","pdf_url":"https://www.kidneymedicinejournal.org/article/S2590-0595(26)00295-5/pdf","source":{"id":"https://openalex.org/S4210206143","display_name":"Kidney Medicine","issn_l":"2590-0595","issn":["2590-0595"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-20"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Kidney Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.kidneymedicinejournal.org/article/S2590-0595(26)00295-5/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5036249535","display_name":"Alexis Cassard","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3019448017","display_name":"Centre Hospitalier Universitaire de Toulouse","ror":"https://ror.org/017h5q109","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019448017"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Alexis Cassard","raw_affiliation_strings":["Department of Nephrology and Organ Transplantation, National Reference Centre for Rare Kidney Diseases and European Rare Kidney Diseases Network, University Hospital of Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology and Organ Transplantation, National Reference Centre for Rare Kidney Diseases and European Rare Kidney Diseases Network, University Hospital of Toulouse, France","institution_ids":["https://openalex.org/I3019448017"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037789300","display_name":"Magali Colombat","orcid":"https://orcid.org/0000-0001-8317-2868","observed_orcids":["https://orcid.org/0000-0001-8317-2868"]},"institutions":[{"id":"https://openalex.org/I4210098740","display_name":"Institut universitaire du cancer de Toulouse Oncopole","ror":"https://ror.org/014hxhm89","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019448017","https://openalex.org/I4210098740","https://openalex.org/I4210128666"]},{"id":"https://openalex.org/I4405258862","display_name":"Universit\u00e9 de Toulouse","ror":"https://ror.org/01ahyrz84","country_code":"FR","type":"education","lineage":["https://openalex.org/I4405258862"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Magali Colombat","raw_affiliation_strings":["Department of Pathology, University Institute for Cancer of Toulouse-Oncopole, University Hospital of Toulouse, France","University of Toulouse, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, University Institute for Cancer of Toulouse-Oncopole, University Hospital of Toulouse, France","institution_ids":["https://openalex.org/I4210098740"]},{"raw_affiliation_string":"University of Toulouse, Toulouse, France","institution_ids":["https://openalex.org/I4405258862"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024336726","display_name":"Thomas Perier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3019448017","display_name":"Centre Hospitalier Universitaire de Toulouse","ror":"https://ror.org/017h5q109","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019448017"]},{"id":"https://openalex.org/I4210098740","display_name":"Institut universitaire du cancer de Toulouse Oncopole","ror":"https://ror.org/014hxhm89","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019448017","https://openalex.org/I4210098740","https://openalex.org/I4210128666"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Thomas Perier","raw_affiliation_strings":["Department of Nephrology and Organ Transplantation, National Reference Centre for Rare Kidney Diseases and European Rare Kidney Diseases Network, University Hospital of Toulouse, France","Department of Pathology, University Institute for Cancer of Toulouse-Oncopole, University Hospital of Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology and Organ Transplantation, National Reference Centre for Rare Kidney Diseases and European Rare Kidney Diseases Network, University Hospital of Toulouse, France","institution_ids":["https://openalex.org/I3019448017"]},{"raw_affiliation_string":"Department of Pathology, University Institute for Cancer of Toulouse-Oncopole, University Hospital of Toulouse, France","institution_ids":["https://openalex.org/I4210098740"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009141968","display_name":"Joost Peter Schanstra","orcid":"https://orcid.org/0000-0002-7471-372X","observed_orcids":["https://orcid.org/0000-0002-7471-372X"]},"institutions":[{"id":"https://openalex.org/I4210147779","display_name":"Institut des Maladies M\u00e9taboliques et Cardiovasculaires","ror":"https://ror.org/04d73z393","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I4210147779","https://openalex.org/I4405258862"]},{"id":"https://openalex.org/I4405258862","display_name":"Universit\u00e9 de Toulouse","ror":"https://ror.org/01ahyrz84","country_code":"FR","type":"education","lineage":["https://openalex.org/I4405258862"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Joost Schanstra","raw_affiliation_strings":["Unit 1297, National Institute of Health and Medical Research, Institute of Metabolic and Cardiovascular Diseases, Toulouse, France","University of Toulouse, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit 1297, National Institute of Health and Medical Research, Institute of Metabolic and Cardiovascular Diseases, Toulouse, France","institution_ids":["https://openalex.org/I4210147779"]},{"raw_affiliation_string":"University of Toulouse, Toulouse, France","institution_ids":["https://openalex.org/I4405258862"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5040540371","display_name":"Stanislas Faguer","orcid":"https://orcid.org/0000-0003-0553-0927","observed_orcids":["https://orcid.org/0000-0003-0553-0927"]},"institutions":[{"id":"https://openalex.org/I3019448017","display_name":"Centre Hospitalier Universitaire de Toulouse","ror":"https://ror.org/017h5q109","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019448017"]},{"id":"https://openalex.org/I4210147779","display_name":"Institut des Maladies M\u00e9taboliques et Cardiovasculaires","ror":"https://ror.org/04d73z393","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I4210147779","https://openalex.org/I4405258862"]},{"id":"https://openalex.org/I4405258862","display_name":"Universit\u00e9 de Toulouse","ror":"https://ror.org/01ahyrz84","country_code":"FR","type":"education","lineage":["https://openalex.org/I4405258862"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Stanislas Faguer","raw_affiliation_strings":["Department of Nephrology and Organ Transplantation, National Reference Centre for Rare Kidney Diseases and European Rare Kidney Diseases Network, University Hospital of Toulouse, France","Unit 1297, National Institute of Health and Medical Research, Institute of Metabolic and Cardiovascular Diseases, Toulouse, France","University of Toulouse, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology and Organ Transplantation, National Reference Centre for Rare Kidney Diseases and European Rare Kidney Diseases Network, University Hospital of Toulouse, France","institution_ids":["https://openalex.org/I3019448017"]},{"raw_affiliation_string":"Unit 1297, National Institute of Health and Medical Research, Institute of Metabolic and Cardiovascular Diseases, Toulouse, France","institution_ids":["https://openalex.org/I4210147779"]},{"raw_affiliation_string":"University of Toulouse, Toulouse, France","institution_ids":["https://openalex.org/I4405258862"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5040540371"],"corresponding_institution_ids":["https://openalex.org/I3019448017","https://openalex.org/I4210147779","https://openalex.org/I4405258862"],"apc_list":{"value":2590,"currency":"USD","value_usd":2590},"apc_paid":{"value":2590,"currency":"USD","value_usd":2590},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.65662007,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"8","issue":"11","first_page":"101533","last_page":"101533"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.9922000169754028,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.9922000169754028,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.002899999963119626,"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/T10408","display_name":"Chronic Kidney Disease and Diabetes","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/kidney-pathology","display_name":"kidney pathology","score":0.7059999704360962},{"id":"https://openalex.org/keywords/renal-tubular-dysfunction","display_name":"renal tubular dysfunction","score":0.527999997138977},{"id":"https://openalex.org/keywords/adult-onset-disease","display_name":"adult-onset disease","score":0.48399999737739563},{"id":"https://openalex.org/keywords/glycoprotein-receptors","display_name":"glycoprotein receptors","score":0.3140000104904175}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7488999962806702},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.54830002784729},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4941999912261963},{"id":"https://openalex.org/C2778653478","wikidata":"https://www.wikidata.org/wiki/Q1054718","display_name":"Kidney disease","level":2,"score":0.42820000648498535},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.35929998755455017},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3138999938964844},{"id":"https://openalex.org/C133397671","wikidata":"https://www.wikidata.org/wiki/Q3347171","display_name":"Renal pathology","level":3,"score":0.30570000410079956},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.27720001339912415},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.24079999327659607},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.23819999396800995}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1016/j.xkme.2026.101533","doi":"https://doi.org/10.1016/j.xkme.2026.101533","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.xkme.2026.101533","pdf_url":"https://www.kidneymedicinejournal.org/article/S2590-0595(26)00295-5/pdf","source":{"id":"https://openalex.org/S4210206143","display_name":"Kidney Medicine","issn_l":"2590-0595","issn":["2590-0595"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-20"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Kidney Medicine","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13697820","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13697820/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13697820/pdf/main.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Kidney Med","raw_type":"Text"},{"id":"pmid:42936474","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42936474","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Kidney medicine","raw_type":"Case Reports"},{"id":"pmh:oai:doaj.org/article:80b674e9ccb049bdaa78b25f9b07ae40","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/80b674e9ccb049bdaa78b25f9b07ae40","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Kidney Medicine, Vol 8, Iss 11, Pp 101533- (2026)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1016/j.xkme.2026.101533","doi":"https://doi.org/10.1016/j.xkme.2026.101533","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.xkme.2026.101533","pdf_url":"https://www.kidneymedicinejournal.org/article/S2590-0595(26)00295-5/pdf","source":{"id":"https://openalex.org/S4210206143","display_name":"Kidney Medicine","issn_l":"2590-0595","issn":["2590-0595"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-20"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Kidney Medicine","raw_type":"journal-article"},"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/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320320893","display_name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","ror":"https://ror.org/02vjkv261"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7212377407.pdf","grobid_xml":"https://content.openalex.org/works/W7212377407.grobid-xml"},"referenced_works_count":11,"referenced_works":["https://openalex.org/W1984849799","https://openalex.org/W2049388984","https://openalex.org/W2110747374","https://openalex.org/W2124211877","https://openalex.org/W2612486456","https://openalex.org/W2794272074","https://openalex.org/W3093988292","https://openalex.org/W3189955324","https://openalex.org/W4319312930","https://openalex.org/W4382069932","https://openalex.org/W4404397593"],"related_works":["https://openalex.org/W3093988292","https://openalex.org/W2039302955","https://openalex.org/W2150174738","https://openalex.org/W7160938329","https://openalex.org/W4411879775","https://openalex.org/W1561205339","https://openalex.org/W7100109207","https://openalex.org/W39015447","https://openalex.org/W2102205995","https://openalex.org/W2128556903"],"abstract_inverted_index":{"Megalin":[0,25],"belongs":[1],"to":[2,140,147],"the":[3,13,53,56,161],"large":[4],"LDL":[5],"receptor-related":[6],"protein":[7],"subfamily":[8],"and":[9,65,82,150],"is":[10,27,113],"pivotal":[11],"in":[12,39,61,133,156,169],"tubular":[14,92],"reabsorption":[15],"of":[16,47,50,99,120,163,165],"low":[17],"molecular-weight":[18],"proteins":[19],"freely":[20],"filtered":[21],"through":[22],"glomerular":[23,130],"filter.":[24],"deficiency":[26,125],"an":[28,44],"ultra-rare":[29],"inherited":[30],"disease":[31,70,102],"(faciooculoacousticorenal":[32],"or":[33],"Donnay-Barrow":[34],"syndrome":[35],"(FOAR/DB))":[36],"mostly":[37],"diagnosed":[38,60],"childhood.":[40],"Here,":[41],"we":[42],"report":[43],"exceptional":[45],"case":[46,107],"biallelic":[48],"mutations":[49],"LRP2":[51,152],",":[52],"gene":[54,158],"encoding":[55],"endocytic":[57],"receptor":[58],"megalin,":[59],"a":[62,117],"51-year-old":[63],"woman":[64],"characterized":[66],"by":[67],"chronic":[68,100],"kidney":[69,101,157],"with":[71,91,128],"incomplete":[72],"proximal":[73,121],"tubule":[74,122],"dysfunction,":[75],"moderate":[76],"sensorineural":[77],"hearing":[78],"loss,":[79],"severe":[80,95],"myopia":[81],"convergent":[83],"strabismus.":[84],"Kidney":[85],"biopsy":[86],"showed":[87],"mild":[88],"interstitial":[89],"fibrosis":[90],"atrophy":[93],"but":[94],"glomerulosclerosis.":[96],"Other":[97],"causes":[98],"were":[103],"ruled":[104],"out.":[105],"This":[106],"highlights":[108],"that,":[109],"(1)":[110],"while":[111],"megalin":[112,124,144],"mainly":[114],"recognized":[115],"as":[116],"key":[118],"actor":[119],"physiology,":[123],"was":[126],"associated":[127],"predominantly":[129],"scarring":[131],"lesions":[132],"human,":[134],"promoting":[135],"slowly":[136],"progressive":[137],"CKD":[138],"similar":[139],"mouse":[141],"models;":[142],"(2)":[143],"can":[145],"contribute":[146],"podocyte":[148],"physiology;":[149],"(3)":[151],"should":[153],"be":[154],"included":[155],"panels":[159],"for":[160],"evaluation":[162],"nephropathy":[164],"unknown":[166],"origin,":[167],"even":[168],"adulthood.":[170]},"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2026-09-13T00:00:00"}
