P3.N269: Pediatric Wegener’s Granulomatosis: A Case Study Highlighting Diagnostic and Management Hurdles

Introduction: Granulomatosis with Polyangiitis (GPA), previously known as Wegener’s Granulomatosis, represents a challenging autoimmune vasculitis, notable for its capacity to affect various organs, predominantly the respiratory tract and kidneys. The disorder's etiology remains elusive, emphasizing autoimmune mechanisms leading to systemic inflammation and organ damage. GPA’s symptomatology can be diverse, ranging from nasal congestion and sinus pain to severe renal impairment. The condition requires a prompt, accurate diagnosis and an aggressive treatment strategy to prevent irreversible organ damage and to improve patient outcomes.

Case Description: 16-year-old Caucasian male with past medical history of seasonal allergies presented to outpatient clinic with abdominal pain, nausea, dark urine and generalized joint pain. He was hospitalized 2 days after the office visit due to worsening condition. His abnormal physical findings showed bilateral red eyes with possible episcleritis/ scleritis, decreased breath decreased breath sounds of both lungs, erythematous nonblanching rash on his chest and his left elbow, erythematous plaque on dorsal surface of his feet, arthritis of both wrist, PIP of bilateral 3rd fingers, generalized abdominal tenderness especially epigastric areas. Initial evaluation highlighted multisystemic involvement, raising suspicions of systemic vasculitis, specifically GPA. Diagnostic procedures, including a skin biopsy and kidney biopsy, alongside serological markers (C-ANCA and PR3), confirmed the diagnosis. Despite standard immunosuppressive therapy, the patient's condition exhibited severe, refractory characteristics, including crescentic glomerulonephritis and lung cavities, necessitating plasma exchange and multiple hospitalizations due to acute renal function deterioration.

Discussion: This case underscores the severe, refractory nature of GPA in a pediatric patient, a rarity in medical literature. The patient's rapid disease progression and poor response to conventional treatment modalities necessitated alternative therapeutic strategies, such as plasma exchange (Tampe et al., 2021; Walsh et al., 2011). This case highlights the unpredictable nature of GPA and the need for a tailored, aggressive treatment approach.
The uniqueness of this presentation prompts a reevaluation of current GPA management strategies, especially in pediatric populations, advocating for early consideration of alternative treatments in cases resistant to standard protocols. It emphasizes the importance of maintaining a broad differential diagnosis for systemic diseases with atypical presentations and suggests the potential benefits of early, aggressive interventions.

Conclusion: This case report contributes to the body of knowledge on GPA by detailing an instance of severe, refractory disease in a pediatric patient, challenging conventional treatment approaches. It accentuates the necessity for clinical vigilance, early and aggressive management strategies, and the consideration of alternative therapies in non-responsive cases. Future research should aim to unravel the pathophysiological mechanisms behind such severe manifestations of GPA in young patients, potentially guiding more effective, customized therapeutic interventions.