Pathological spectrum of hereditary transthyretin renal amyloidosis and clinicopathologic correlation: a French observational study

Author:

Dang Julien12ORCID,Ferlicot Sophie3ORCID,Misrahi Micheline4ORCID,Mussini Charlotte3,Kounis Ilias56,Rémy Philippe78,Samuel Didier56,Planté-Bordeneuve Violaine89,Adams David10,Funalot Benoit811,Snanoudj Renaud12,Damy Thibaud812,Moktefi Anissa13ORCID,Audard Vincent78,Zaidan Mohamad12

Affiliation:

1. Assistance Publique des Hôpitaux de Paris (AP-HP), Université Paris-Saclay, Hôpital de Bicêtre, Service de Néphrologie et Transplantation , Le Kremlin-Bicêtre , France

2. Centre de Compétence Maladies Rares « Syndrome Néphrotique Idiopathique », Hôpital de Bicêtre , Le Kremlin-Bicêtre , France

3. AP-HP, Université Paris-Saclay, Hôpital de Bicêtre, Service d'Anatomie Pathologique , Le Kremlin-Bicêtre , France

4. AP-HP, Université Paris-Saclay, Hôpital de Bicêtre, Unité de Génétique Moléculaire des Maladies Métaboliques et de la Reproduction , Le Kremlin-Bicêtre , France

5. AP-HP, Université Paris-Saclay, Hôpital Paul-Brousse, Centre Hépato-Biliaire , Villejuif , France

6. Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Saclay, Physiopathogénèse et traitement des maladies du Foie, Fédération Hospitalo-Universitaire (FHU) Hepatinov , Villejuif , France

7. AP-HP, Hôpitaux Universitaires Henri Mondor, Service de Néphrologie et Transplantation, Centre de Référence Maladie Rare ‘Syndrome Néphrotique Idiopathique’, Fédération Hospitalo-Universitaire ‘Innovative Therapy for Immune Disorders’ , Créteil , France

8. Univ Paris Est Créteil, INSERM U955, Institut Mondor de Recherche Biomédicale (IMRB) , Créteil , France

9. AP-HP, Hôpitaux Universitaires Henri Mondor, Service de Neurologie , Créteil , France

10. AP-HP, Université Paris-Saclay, Hôpital de Bicêtre, Service de Neurologie , Le Kremlin-Bicêtre , France

11. AP-HP, Hôpitaux Universitaires Henri Mondor, Département de Biochimie, Biologie Moléculaire, Pharmacologie et Génétique Médicale , Créteil , France

12. AP-HP, Hôpitaux Universitaires Henri Mondor, Service de Cardiologie, Centre de Référence National Amyloses Cardiaques, GRC Amyloid Research Institute , Créteil , France

13. AP-HP, Hôpitaux Universitaires Henri Mondor, Département de Pathologie , Créteil , France

Abstract

ABSTRACT Background Cardiac and neurological involvements are the main clinical features of hereditary transthyretin (ATTRv) amyloidosis. Few data are available about ATTRv amyloid nephropathy (ATTRvN). Methods We retrospectively included 30 patients with biopsy-proven ATTRvN [V30M (26/30) including two domino liver recipients, S77Y (2/30), V122I (1/30) and S50R (1/30) variants] from two French reference centers. We described the pathological features by comparing amyloid deposits distribution to patients with AL or AA amyloidosis, and sought to determine clinicopathological correlation with known disease-modifying factors such as TTR variant, gender and age at diagnosis. Results In comparison with AL and AA amyloidosis, ATTRv patients had similar glomerular, arteriolar and arterial amyloid deposits, but more cortical and medullary tubulointerstitial (33%, 44%, 77%, P = .03) involvement. While the presence of glomerular deposits is associated with the range of proteinuria, some patients with abundant glomerular ATTRv amyloidosis had no significant proteinuria. V30M patients had more glomerular (100% and 25%, odds ratio = 114, 95% confidence interval 3.85–3395.00, P = .001) deposits, and higher estimated glomerular filtration rate [50 (interquartile range 44–82) and 27 (interquartile range 6–31) mL/min/1.73 m², P = .004] than non-V30M patients. We did not find difference in amyloid deposition according to gender or age at diagnosis. Conclusion ATTRvN affects all kidney compartments, but compared with AL/AA amyloidosis, ATTRvN seems to involve more frequently tubulointerstitial areas. V30M patients represents the dominant face of the disease with a higher risk of glomerular/arteriolar involvement. ATTRvN should thus be considered in patients, and potential relatives, with ATTRv amyloidosis and kidney dysfunction, regardless of proteinuria level.

Funder

Sanofi Genzyme

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Kidney Biopsy Corner: Amyloidosis;Glomerular Diseases;2023-09-08

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