New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis
| Autor: | Estelle Desport, Vincent Javaugue, Antoine Durrbach, Didier Samuel, Frank Bridoux, Magali Colombat, Nathalie Quellard, S. Valleix, Thierry Frouget, Jean Philippe Rerolle, Jean-Claude Aldigier, Pierre-Raphaël Rothschild, Caroline Beugnet, Antoine P. Brézin, Nathalie Rioux-Leclercq, Aurélien Tiple, François Paraf, Jean-Michel Goujon |
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| Přispěvatelé: | Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Dupuytren [CHU Limoges], AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre hospitalier universitaire de Poitiers (CHU Poitiers), CHU Pontchaillou [Rennes], Hôpital de la Milétrie, CHU Necker - Enfants Malades [AP-HP], Centre Hospitalier Jacques Lacarin, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Hôpital Paul Brousse, Association Francaise contre l'Amylose, CHU Toulouse [Toulouse]-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Toulouse [Toulouse], CHU Limoges, CH Vichy |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Adult Male Pathology medicine.medical_specialty retinal amyloidosis [SDV]Life Sciences [q-bio] 030232 urology & nephrology Disease Renal amyloidosis Organ transplantation Retina 03 medical and health sciences 0302 clinical medicine medicine Humans cysteine-ApoA-I variant AApoAI amyloidosis Kidney biology Apolipoprotein A-I business.industry Amyloidosis combined hepatorenal transplantation medicine.disease Penetrance 3. Good health Transplantation 030104 developmental biology medicine.anatomical_structure Nephrology biology.protein glomerular amyloidosis Apolipoprotein A1 Kidney Diseases business Amyloidosis Familial |
| Zdroj: | Kidney International Kidney International, 2020, 98 (1), pp.195-208. ⟨10.1016/j.kint.2020.03.033⟩ Kidney International, Nature Publishing Group, 2020, 98 (1), pp.195-208. ⟨10.1016/j.kint.2020.03.033⟩ |
| ISSN: | 0085-2538 1523-1755 |
| DOI: | 10.1016/j.kint.2020.03.033⟩ |
| Popis: | International audience; Apolipoprotein A1 amyloidosis (ApoAI) results from specific mutations in the APOA1 gene causing abnormal accumulation of amyloid fibrils in diverse tissues. The kidney is a prominent target tissue in ApoAI amyloidosis with a remarkable selectivity for the renal medulla. Here, we investigated six French families with ApoAI Glu34Lys, p.His179Profs*47, and a novel p.Thr185Alafs*41 variant revealing unprecedented clinical association of a glomerular with a retinal disease. Comprehensive clinicopathological, molecular and proteomics studies of numerous affected tissues ensured the correlation between clinical manifestations, including novel unrecognized phenotypes, and apoA-I amyloid deposition. These ophthalmic manifestations stemmed from apoA-I amyloid deposition, highlighting that the retina is a previously unrecognized tissue affected by ApoAI amyloidosis. Our study provides the first molecular evidence that a significant fraction of ApoAI amyloidosis cases with no family history result from spontaneous neomutations rather than variable disease penetrance. Finally, successful hepatorenal transplantation resulted in a life- and visionsaving measure for a 32-year-old man with a hitherto unreported severe ApoAI amyloidosis caused by the very rare Glu34Lys variant. Our findings reveal new modes of occurrence and expand the clinical spectrum of ApoAI amyloidosis. The awareness of glomerular and ocular manifestations in ApoAI amyloidosis should enable earlier diagnosis and avoid misdiagnosis with other forms of renal amyloidosis. Thus, documented apoA-I amyloid deposition in the retina offers new biological information about this disease and may change organ transplantation practice to reduce retinal damage in patients with ApoAI amyloidosis. |
| Databáze: | OpenAIRE |
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