A Clinicopathological Description of Kidney Features in VEXAS Syndrome
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.
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