{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T02:17:09Z","timestamp":1773368229647,"version":"3.50.1"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T00:00:00Z","timestamp":1747612800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100021838","name":"Royal College of Physicians of Ireland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100021838","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018645","name":"MRC","doi-asserted-by":"publisher","award":["MR\/Y007808\/1"],"award-info":[{"award-number":["MR\/Y007808\/1"]}],"id":[{"id":"10.13039\/100018645","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004185","name":"Northern Counties Kidney Research Fund","doi-asserted-by":"publisher","award":["20\/01"],"award-info":[{"award-number":["20\/01"]}],"id":[{"id":"10.13039\/501100004185","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Children's Foundation Ireland","award":["RPAC 19.05"],"award-info":[{"award-number":["RPAC 19.05"]}]},{"name":"Children's Foundation Ireland","award":["RPAC 20-03"],"award-info":[{"award-number":["RPAC 20-03"]}]},{"name":"Children's Foundation Ireland","award":["RPAC 1705"],"award-info":[{"award-number":["RPAC 1705"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,23]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and hypothesis<\/jats:title>\n                    <jats:p>Podocytopathy associated with likely pathogenic\/pathogenic variants of Transient receptor potential cation channel subfamily C member 6 (TRPC6) (TRPC6-AP) has been recognized for about 20 years. As a result of its rarity however, the spectrum of clinical phenotypes and genotype\u2013phenotype correlation of TRPC6-AP remains poorly understood. Here, we characterized clinical, histological and genetic correlates of familial and sporadic patients with TRPC6-AP.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this multicentre observational study, an online questionnaire followed by a systematic literature review was performed to create a cohort with comprehensive data on genetic and clinical outcomes [age of onset, clinical presentation, treatment response, kidney biopsy findings and progression to kidney failure (KF)]. Logistic regression, Cox proportional hazards model and Kaplan\u2013Meier analyses investigated the associations between genetic variants and disease progression.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 87 families (96 familial and 45 sporadic cases), 31 distinct missense TRPC6 variants (including 2 novel) were identified, with c.2683C&amp;gt;T p.(Arg895Cys) and c.523C&amp;gt;T p.(Arg175Trp) the commonest variants. Proteinuric kidney disease\/nephrotic syndrome was the most common clinical presentation (83.7%), while focal segmental glomerulosclerosis was the most common histological finding (89.4%). By 33 (interquartile range 17\u201340) years, 48.9% (69\/141) of patients had progressed to KF. Sporadic TRPC6-AP demonstrated an earlier progression to KF than familial cases (P\u00a0=\u00a0.001) and were more likely to present with nephrotic syndrome [odds ratio 4.34 (1.85\u201310.15); P\u00a0=\u00a0.001]. Gain-of-function TRPC6 variants were more frequent in familial than sporadic TRPC6-AP (70.8% vs 44.4%; P\u00a0=\u00a0.004). Compared with patients with other TRPC6 variants, patients with TRPC6 p.R175W and p.R895C variants progressed to KF earlier [median kidney survival of 21 years, hazard ratio 2.985 (95% confidence interval 1.40\u20135.79); and 38 years, hazard ratio 1.65 (95% confidence interval 1.01\u20132.81), respectively, log-rank P\u00a0=\u00a0.005].<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our study shows unique clinical and genetic correlations of TRPC6-AP, which may enable personalized care and promising novel therapies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ndt\/gfaf086","type":"journal-article","created":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T07:56:49Z","timestamp":1747295809000},"page":"79-91","source":"Crossref","is-referenced-by-count":2,"title":["Genotype\u2013phenotype correlations and clinical outcomes of genetic\n                    <i>TRPC6<\/i>\n                    podocytopathies"],"prefix":"10.1093","volume":"41","author":[{"given":"Susan M","family":"McAnallen","sequence":"first","affiliation":[{"name":"Beaumont Hospital Department of Nephrology and Transplantation, , Dublin ,","place":["Ireland"]},{"name":"St James's Hospital Nephrology Department, , Dublin ,","place":["Ireland"]},{"name":"Royal College of Surgeons in Ireland Department of Medicine, , Dublin ,","place":["Ireland"]}]},{"given":"Elhussein A E","family":"Elhassan","sequence":"additional","affiliation":[{"name":"Beaumont Hospital Department of Nephrology and Transplantation, , Dublin ,","place":["Ireland"]},{"name":"Royal College of Surgeons in Ireland Department of Medicine, , Dublin ,","place":["Ireland"]},{"name":"The European Rare Kidney Disease Reference Network (ERKNet) , Heidelberg ,","place":["Germany"]}]},{"given":"Sinead","family":"Stoneman","sequence":"additional","affiliation":[{"name":"Beaumont Hospital Department of Nephrology and Transplantation, , Dublin ,","place":["Ireland"]},{"name":"University of British Columbia Division of Nephrology, Department of Medicine, , Vancouver , British Columbia,","place":["Canada"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6030-1903","authenticated-orcid":false,"given":"Filippo","family":"Pinto e Vairo","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Mayo Clinic Center for Individualized Medicine, Department of Clinical Genomics, , Rochester, MN,","place":["USA"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3031-8522","authenticated-orcid":false,"given":"Marie C","family":"Hogan","sequence":"additional","affiliation":[{"name":"Mayo Clinic Division of Nephrology and Hypertension, Department of Medicine, , Rochester, MN ,","place":["USA"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7917-7129","authenticated-orcid":false,"given":"Julia","family":"Hoefele","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital, Ludwig-Maximilians University , Munich ,","place":["Germany"]},{"name":"Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health , Munich ,","place":["Germany"]}]},{"given":"Michelle","family":"Clince","sequence":"additional","affiliation":[{"name":"Beaumont Hospital Department of Nephrology and Transplantation, , Dublin ,","place":["Ireland"]}]},{"given":"Poemlarp","family":"Mekraksakit","sequence":"additional","affiliation":[{"name":"Mayo Clinic Division of Nephrology and Hypertension, Department of Medicine, , Rochester, MN ,","place":["USA"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6206-1111","authenticated-orcid":false,"given":"Silvia M","family":"Titan","sequence":"additional","affiliation":[{"name":"Mayo Clinic Division of Nephrology and Hypertension, Department of Medicine, , Rochester, MN ,","place":["USA"]}]},{"given":"Sofia","family":"Jorge","sequence":"additional","affiliation":[{"name":"Renal Transplantation of Hospital de Santa Maria Department of Nephrology and , ULSSM, Lisbon,","place":["Portugal"]}]},{"given":"Joaquim","family":"Calado","sequence":"additional","affiliation":[{"name":"NOVA Medical School , Faculdade de Ci\u00eancias M\u00e9dicas, Edif\u00edcio CEDOC II, Rua C\u00e2mara Pestana, Lisbon,","place":["Portugal"]},{"name":"Hospital de Dona Estef\u00e2nia Unidade de Nefrologia Pedi\u00e1trica, , Unidade local de Sa\u00fade de S\u00e3o Jos\u00e9, Centro Cl\u00ednico Acad\u00e9mico de Lisboa, Rua Jacinta Marto, Lisbon,","place":["Portugal"]}]},{"given":"St\u00e9phane","family":"Decramer","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology and Internal Medecine. Pediatric Apheresis and Transplantation Children Hospital , Toulouse ,","place":["France"]},{"name":"Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales Rares du Sud Ouest (SORARE) Membre du R\u00e9seau Europ\u00e9en ERKNet, Limoges University Hospital , Limoges,","place":["France"]}]},{"given":"Elo\u00efse","family":"Colliou","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de Toulouse D\u00e9partement de N\u00e9phrologie et Transplantation d'Organes, Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales Rares, , Toulouse ,","place":["France"]}]},{"given":"St\u00e9phanie","family":"Tellier","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology and Internal Medecine. Pediatric Apheresis and Transplantation Children Hospital , Toulouse ,","place":["France"]},{"name":"Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales Rares du Sud Ouest (SORARE) Membre du R\u00e9seau Europ\u00e9en ERKNet, Limoges University Hospital , Limoges,","place":["France"]}]},{"given":"Telma","family":"Francisco","sequence":"additional","affiliation":[{"name":"Hospital de Dona Estef\u00e2nia Unidade de Nefrologia Pedi\u00e1trica, , Unidade local de Sa\u00fade de S\u00e3o Jos\u00e9, Centro Cl\u00ednico Acad\u00e9mico de Lisboa, Rua Jacinta Marto, Lisbon,","place":["Portugal"]}]},{"given":"Aude","family":"Servais","sequence":"additional","affiliation":[{"name":"N\u00e9phrologie et Transplantation r\u00e9nale adulte , H\u00f4pital Universitaire Necker Enfants Malades, APHP, Paris ,","place":["France"]}]},{"given":"Jos\u00e9phine","family":"Cornet","sequence":"additional","affiliation":[{"name":"N\u00e9phrologie et Transplantation r\u00e9nale adulte , H\u00f4pital Universitaire Necker Enfants Malades, APHP, Paris ,","place":["France"]}]},{"given":"Jonathan","family":"de Fallois","sequence":"additional","affiliation":[{"name":"University of Leipzig Medical Center Division of Nephrology, Department of Internal Medicine, , Leipzig ,","place":["Germany"]}]},{"given":"Claire","family":"Dossier","sequence":"additional","affiliation":[{"name":"Robert-Debr\u00e9 Hospital Department of Pediatric Nephrology, , APHP, Paris ,","place":["France"]}]},{"given":"Roberta","family":"Fenoglio","sequence":"additional","affiliation":[{"name":"University Center of Excellence on Nephrological, Rheumatological and Rare Diseases Including Nephrology and Dialysis Unit and Center of Immuno-Rheumatology and Rare Diseases (CMID), San Giovanni Bosco Hub Hospital , ASL Citt\u00e0 di Torino and Department of Clinical and Biological Sciences of the University of Turin, Turin ,","place":["Italy"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0846-9220","authenticated-orcid":false,"given":"Alessandra","family":"Renieri","sequence":"additional","affiliation":[{"name":"University of Siena Medical Genetics, , Siena ,","place":["Italy"]},{"name":"University of Siena Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, , Siena ,","place":["Italy"]},{"name":"Genetica Medica, Azienda Ospedaliero-Universitaria Senese , Siena ,","place":["Italy"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6259-6901","authenticated-orcid":false,"given":"Anna Maria","family":"Pinto","sequence":"additional","affiliation":[{"name":"Genetica Medica, Azienda Ospedaliero-Universitaria Senese , Siena ,","place":["Italy"]}]},{"given":"Sergio","family":"Daga","sequence":"additional","affiliation":[{"name":"University of Siena Medical Genetics, , Siena ,","place":["Italy"]},{"name":"University of Siena Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, , Siena ,","place":["Italy"]}]},{"given":"Lorenzo","family":"Loberti","sequence":"additional","affiliation":[{"name":"University of Siena Medical Genetics, , Siena ,","place":["Italy"]},{"name":"University of Siena Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, , Siena ,","place":["Italy"]},{"name":"Genetica Medica, Azienda Ospedaliero-Universitaria Senese , Siena ,","place":["Italy"]}]},{"given":"Marc","family":"Fila","sequence":"additional","affiliation":[{"name":"CHU Arnaud de Villeneuve \u2013 Montpellier University Pediatric Nephrology Department, , Montpellier ,","place":["France"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7582-8476","authenticated-orcid":false,"given":"Luis F","family":"Quintana","sequence":"additional","affiliation":[{"name":"Complex Glomerular Disease Unit (CSUR) . Department of Nephrology and Kidney Transplantation, Hospital Clinic de Barcelona, University of Barcelona, IDIBAPS, Barcelona ,","place":["Spain"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1011-7291","authenticated-orcid":false,"given":"Francesca","family":"Becherucci","sequence":"additional","affiliation":[{"name":"Meyer Children's Hospital IRCCS Nephrology and Dialysis, , Florence ,","place":["Italy"]},{"name":"Experimental and Clinical Sciences, University of Florence Department of Biomedical, , Florence ,","place":["Italy"]}]},{"given":"Nathalie","family":"Godefroid","sequence":"additional","affiliation":[{"name":"Cliniques Universitaires Saint Luc Department of Pediatric Nephrology, , Brussels ,","place":["Belgium"]}]},{"given":"Astrid","family":"Dubrasquet","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales Rares du Sud Ouest (SORARE) Membre du R\u00e9seau Europ\u00e9en ERKNet, Limoges University Hospital , Limoges,","place":["France"]},{"name":"Bordeaux University Hospital , Bordeaux,","place":["France"]}]},{"given":"Tory","family":"K\u00e1lm\u00e1n","sequence":"additional","affiliation":[{"name":"Pediatric Center, Semmelweis University, MTA Center of Excellence , Budapest ,","place":["Hungary"]}]},{"given":"Niamh","family":"Dolan","sequence":"additional","affiliation":[{"name":"Paediatric Nephrology & Transplantation Department of , Children's Health Ireland at Temple Street, Dublin ,","place":["Ireland"]},{"name":"Paediatric Nephrology Department of , Children's Health Ireland at Crumlin, Dublin ,","place":["Ireland"]}]},{"given":"Bushra Al","family":"Alawi","sequence":"additional","affiliation":[{"name":"Paediatric Nephrology & Transplantation Department of , Children's Health Ireland at Temple Street, Dublin ,","place":["Ireland"]},{"name":"Paediatric Nephrology Department of , Children's Health Ireland at Crumlin, Dublin ,","place":["Ireland"]}]},{"given":"Clodagh","family":"Sweeney","sequence":"additional","affiliation":[{"name":"Paediatric Nephrology & Transplantation Department of , Children's Health Ireland at Temple Street, Dublin ,","place":["Ireland"]},{"name":"Paediatric Nephrology Department of , Children's Health Ireland at Crumlin, Dublin ,","place":["Ireland"]}]},{"given":"Michael","family":"Riordan","sequence":"additional","affiliation":[{"name":"Paediatric Nephrology & Transplantation Department of , Children's Health Ireland at Temple Street, Dublin ,","place":["Ireland"]},{"name":"Paediatric Nephrology Department of , Children's Health Ireland at Crumlin, Dublin ,","place":["Ireland"]}]},{"given":"Maria","family":"Stack","sequence":"additional","affiliation":[{"name":"Paediatric Nephrology & Transplantation Department of , Children's Health Ireland at Temple Street, Dublin ,","place":["Ireland"]},{"name":"Paediatric Nephrology Department of , Children's Health Ireland at Crumlin, Dublin ,","place":["Ireland"]}]},{"given":"Atif","family":"Awan","sequence":"additional","affiliation":[{"name":"Paediatric Nephrology & Transplantation Department of , Children's Health Ireland at Temple Street, Dublin ,","place":["Ireland"]},{"name":"Paediatric Nephrology Department of , Children's Health Ireland at Crumlin, Dublin ,","place":["Ireland"]},{"name":"Paediatrics, School of Medicine & Medical Science, University College Dublin Department of , Belfield, Dublin ,","place":["Ireland"]}]},{"given":"Ng Kar","family":"Hui","sequence":"additional","affiliation":[{"name":"Yong Loo Lin School of Medicine, National University of Singapore Paediatrics, ,","place":["Singapore"]}]},{"given":"Hugh J","family":"McCarthy","sequence":"additional","affiliation":[{"name":"Sydney Children's Hospital Department of Nephrology, , Randwick, New South Wales,","place":["Australia"]},{"name":"The Children's Hospital at Westmead Nephrology Department, , Westmead, New South 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Kidney Disease Reference Network (ERKNet) , Heidelberg,","place":["Germany"]},{"name":"Heidelberg University Hospital, Center for Pediatric and Adolescent Medicine , Heidelberg ,","place":["Germany"]}]},{"given":"Anthony J","family":"Bleyer","sequence":"additional","affiliation":[{"name":"Wake Forest University School of Medicine Section on Nephrology, , Winston-Salem, NC ,","place":["USA"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8752-2551","authenticated-orcid":false,"given":"Andrew J","family":"Mallett","sequence":"additional","affiliation":[{"name":"College of Medicine and Dentistry, James Cook University , Queensland , Townsville,","place":["Australia"]},{"name":"Townsville University Hospital Department of Renal Medicine, , Queensland , Townsville,","place":["Australia"]},{"name":"Institute for Molecular Bioscience, The University of Queensland , , Queensland , Brisbane,","place":["Saint Lucia Australia"]}]},{"given":"John A","family":"Sayer","sequence":"additional","affiliation":[{"name":"The Newcastle Hospitals NHS Foundation Trust Renal Services, , Newcastle upon Tyne , Tyne and Wear,","place":["UK"]},{"name":"Biosciences Institute, Newcastle University , Newcastle upon Tyne , Tyne and Wear,","place":["UK"]}]},{"given":"Franz","family":"Schafer","sequence":"additional","affiliation":[{"name":"The European Rare Kidney Disease Reference Network (ERKNet) , Heidelberg,","place":["Germany"]},{"name":"Heidelberg University Hospital, Center for Pediatric and Adolescent Medicine , Heidelberg ,","place":["Germany"]}]},{"given":"Katherine A","family":"Benson","sequence":"additional","affiliation":[{"name":"School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons , Dublin ,","place":["Ireland"]}]},{"given":"Emma","family":"McCann","sequence":"additional","affiliation":[{"name":"Children's Health Ireland at Crumlin The Department of Clinical Genetics, , Dublin ,","place":["Ireland"]}]},{"given":"Peter J","family":"Conlon","sequence":"additional","affiliation":[{"name":"Transplantation, Beaumont Hospital Department of Nephrology and , Dublin ,","place":["Ireland"]},{"name":"Royal College of Surgeons in Ireland Department of Medicine, , Dublin ,","place":["Ireland"]},{"name":"The European Rare Kidney Disease Reference Network (ERKNet) , Heidelberg ,","place":["Germany"]}]}],"member":"286","published-online":{"date-parts":[[2025,5,19]]},"reference":[{"key":"2025122223470400600_bib1","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1681\/ASN.2017090958","article-title":"Differentiating primary, genetic, and secondary FSGS in adults: a clinicopathologic approach","volume":"29","author":"De Vriese","year":"2018","journal-title":"J Am Soc 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