Childhood-Onset ANCA-Associated Vasculitis: From Genetic Studies to Advances in Pathogenesis, Classification and Novel Therapeutic Approaches

Abstract

Childhood-onset antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV) represents a heterogeneous group of multi-system autoimmune conditions associated with chronic inflammation, characteristically affecting small blood vessels, leading to various organ and system manifestations. Although rare in paediatric populations, AAV poses challenges in early recognition, diagnosis and management of refractory cases. This review highlights the characteristics of clinical presentation and outcomes of AAV in children, as well as its current classification and progress achieved in understanding the disease pathogenesis, with a focus on adult and paediatric genetic studies. Furthermore, we discuss the management of AAV in children, as well as new emerging therapies and future research needs, while proposing a potential algorithm for a childhood-onset-AAV therapeutic approach based on the disease phenotype.

Keywords: antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis; children-onset; classification; genes; management.

Figure 1

Legend: AZA—azathioprine; CYC—cyclophosphamide; EGPA—eosinophilic granulomatosis with polyangiitis; GC—glucocorticoids; GPA—granulomatosis with polyangiitis; MMF—mycophenolate mofetil; MPA—microscopic polyangiitis; MTX—methotrexate; PEX—plasma exchange; RTX—rituximab.