Article Dans Une Revue Kidney International Reports Année : 2024

A Clinicopathological Description of Kidney Features in VEXAS Syndrome

1 CHU Tenon [AP-HP]
2 CRSA - Centre de Recherche Saint-Antoine
3 CHU Saint-Antoine [AP-HP]
4 AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP)
5 I3 - Immunologie - Immunopathologie - Immunothérapie [CHU Pitié Salpêtrière]
6 CHU Estaing [Clermont-Ferrand]
7 UCBL - Université Claude Bernard Lyon 1
8 HCL - Hospices Civils de Lyon
9 UNICANCER/CRCL - Centre de Recherche en Cancérologie de Lyon
10 CHLS - Centre Hospitalier Lyon Sud [CHU - HCL]
11 CHU Pitié-Salpêtrière [AP-HP]
12 CIMI - Centre d'Immunologie et des Maladies Infectieuses
13 CHELTER - Role of intra-Clonal Heterogeneity and Leukemic environment in ThErapy Resistance of chronic leukemias
14 Service Néphrologie, Hémodialyses [CHU Clermont-Ferrand]
15 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
16 IMRB - Institut Mondor de Recherche Biomédicale
17 CRLCC - CRLCC Eugène Marquis
18 CRLCC René Gauducheau
19 Centre hospitalier de Saint-Nazaire
20 IUCT Oncopole - UMR 1037 - Institut Universitaire du Cancer de Toulouse - Oncopole
21 Infinity - Institut Toulousain des Maladies Infectieuses et Inflammatoires
22 Centre de Rhumatologie [CHU Toulouse]
23 Service Médecine interne [CHU Toulouse]
24 Département de Néphrologie et Transplantation d'organes [CHU Toulouse]
25 Service Addictologie et Pathologie Duelles [CHU Clermont-Ferrand]
26 CHU Toulouse - Centre Hospitalier Universitaire de Toulouse
27 AP-HP - Hôpital Bichat - Claude Bernard [Paris]
28 Hôpital Cochin [AP-HP]
David Buob
Khalil El Karoui
  • Fonction : Auteur
  • PersonId : 1548134

Résumé

VEXAS (Vacuoles, enzyme E3, X-linked, Autoinflammatory, Somatic) is a recently reported late-onset autoinflammatory syndrome characterized by myeloid lineage-restricted somatic mutations in the ubiquitin-activating E1 (UBA1) gene.1 The estimated prevalence of disease-causing UBA1 variants was 1 in 4269 men aged >50 years in 163.096 exome data from a US regional health system.2 The main clinical features of VEXAS include skin lesions (83%, mostly neutrophilic dermatosis), fever (64%), lung involvement (50%), and ocular inflammation (39%).1,3 Myelodysplastic syndrome is identified in about 50% cases. Interestingly, direct organ infiltration by immature clonal cells could have a critical role in disease pathophysiology.4,5 To date, renal lesions of patients with VEXAS have been poorly characterized, on the basis of single case reports only, and include interstitial nephritis, AA amyloidosis, or pauci-immune vasculitis.6-9 In the present work, we aimed to describe the clinico-pathological findings and molecular characterization of patients with VEXAS who underwent a kidney biopsy.

Fichier principal
Vignette du fichier
vexas.pdf (531.16 Ko) Télécharger le fichier
Origine Publication financée par une institution
Licence

Dates et versions

hal-05096159 , version 1 (03-06-2025)

Licence

Identifiants

Citer

Martin Mathurin, Pierre Hirsch, Vincent Jachiet, Jérôme Hadjadj, Guillaume Le Guenno, et al.. A Clinicopathological Description of Kidney Features in VEXAS Syndrome. Kidney International Reports, 2024, 10 (1), pp.260 - 264. ⟨10.1016/j.ekir.2024.10.026⟩. ⟨hal-05096159⟩
2846 Consultations
190 Téléchargements

Altmetric

Partager

  • More