{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:29:11Z","timestamp":1790753351060,"version":"4.1.0"},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2022,5,5]],"date-time":"2022-05-05T00:00:00Z","timestamp":1651708800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,8,22]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Hereditary transthyretin amyloidosis (ATTRv) is a disabling and life-threatening disease that primarily affects the nervous system and heart. Its kidney involvement has not been systematically studied, particularly in non-V30M mutations, and is not well known to nephrologists.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We conducted a retrospective study describing the kidney phenotype of all prevalent patients with ATTR mutations, with neurological or cardiac involvement or presymptomatic carriers, followed up in two university hospitals from the South of France between June 2011 and June 2021.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A total of 103 patients were included, among whom 79 were symptomatic and 24 were presymptomatic carriers. Patients carried 21 different ATTR mutations and 54% carried the V30M mutation. After a mean follow-up of 7.9 \u00b1 25.7 years, 30.4% of the symptomatic patients had developed chronic kidney disease (CKD) and 20.3% had a urinary protein:creatinine ratio \u22650.5 g\/g. None of the presymptomatic carriers had CKD or proteinuria. In a multivariate analysis, late onset of symptoms (after 60 years), the V122I mutation and proteinuria were significantly associated with CKD. The median CKD-free survival in symptomatic patients was estimated at 81.0 years (interquartile range 77.1\u201384.9). It did not differ between V30M and non-V30M patients, but was lower in patients with the V122I mutation. The average age of the onset of CKD was 69.3 \u00b1 13.0 years. In one 38-year-old V30M female who presented a kidney-predominant phenotype, treatment with patisiran resulted in remission of the nephrotic syndrome.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>CKD affects almost one-third of patients with symptomatic ATTRv. The role of ATTRv per se in the development of CKD in this population remains to be determined, but some patients may benefit from specific therapies.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ckj\/sfac118","type":"journal-article","created":{"date-parts":[[2022,5,2]],"date-time":"2022-05-02T19:12:40Z","timestamp":1651518760000},"page":"1747-1754","source":"Crossref","is-referenced-by-count":39,"title":["Kidney involvement in hereditary transthyretin amyloidosis: a cohort study of 103 patients"],"prefix":"10.1093","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3621-3329","authenticated-orcid":false,"given":"Justine","family":"Solignac","sequence":"first","affiliation":[{"name":"Centre de N\u00e9phrologie et Transplantation R\u00e9nale, H\u00f4pital de la Conception, Assistance Publique\u2013H\u00f4pitaux de Marseille , Marseille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilien","family":"Delmont","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires et SLA, H\u00f4pital de la Timone, Assistance Publique\u2013H\u00f4pitaux de Marseille , Marseille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etienne","family":"Fortanier","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires et SLA, H\u00f4pital de la Timone, Assistance Publique\u2013H\u00f4pitaux de Marseille , Marseille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahram","family":"Attarian","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires et SLA, H\u00f4pital de la Timone, Assistance Publique\u2013H\u00f4pitaux de Marseille , Marseille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Mancini","sequence":"additional","affiliation":[{"name":"SESSTIM, INSERM Universit\u00e9 Aix Marseille, Sciences Economiques et Sociales de la Sant\u00e9 and Traitement de l'Information M\u00e9dicale , Marseille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Daniel","sequence":"additional","affiliation":[{"name":"Service d'Anatomo-cyto-pathologie, H\u00f4pital de la Timone, Assistance Publique\u2013H\u00f4pitaux de Marseille , Marseille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8864-6775","authenticated-orcid":false,"given":"Ioana","family":"Ion","sequence":"additional","affiliation":[{"name":"Service de Neurologie H\u00f4pital Car\u00e9meau, Assistance Publique\u2013H\u00f4pitaux de N\u00eemes , N\u00eemes , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Etienne","family":"Ricci","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, H\u00f4pital Car\u00e9meau, Assistance Publique\u2013H\u00f4pitaux de N\u00eemes , N\u00eemes , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Robert","sequence":"additional","affiliation":[{"name":"Centre de N\u00e9phrologie et Transplantation R\u00e9nale, H\u00f4pital de la Conception, Assistance Publique\u2013H\u00f4pitaux de Marseille , Marseille , France"},{"name":"MMG, Bioinformatics and Genetics, Aix-Marseille Universit\u00e9 , Marseille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilbert","family":"Habib","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, Insuffisance Cardiaque, H\u00f4pital de la Timone, Assistance Publique\u2013H\u00f4pitaux de Marseille , Marseille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3127-1415","authenticated-orcid":false,"given":"Olivier","family":"Moranne","sequence":"additional","affiliation":[{"name":"Service N\u00e9phrologie-Dialyses-Aph\u00e9r\u00e8ses, H\u00f4pital Universitaire de N\u00eemes, CHU Caremeau , N\u00eemes , France"},{"name":"IDESP, INSERM Universit\u00e9 de Montpellier , Montpellier , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9315-1577","authenticated-orcid":false,"given":"No\u00e9mie","family":"Jourde-Chiche","sequence":"additional","affiliation":[{"name":"Centre de N\u00e9phrologie et Transplantation R\u00e9nale, H\u00f4pital de la Conception, Assistance Publique\u2013H\u00f4pitaux de Marseille , Marseille , 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