A clinical case of Wegener's granulomatosis in an adolescent: difficulties in diagnosis and treatment

Abstract

Background. Granulomatosis with polyangiitis (Wegener's) is a rare disease, characterized by granulomatous inflammation of the respiratory tract in combination with necrotizing vasculitis of medium and small vessels with multiorgan damage. The incidence is 0.03-3.2 cases per 100,000 children per year, more often in girls during adolescence, the average age at diagnosis is 14.2 years. Given the rare prevalence of this disease, its "masking" under other pathologies, multiorgan damage with irreversible progression, the implementation of early diagnostic methods for the timely prescription of effective therapy is relevant. The main method of granulomatosis with polyangiitis treatment includes long-term use of steroid hormones and cytostatics, which leads to the development of serious complications. A significant problem is the selection of minimal effective doses, the appointment of symptomatic treatment and replacement with other immunosuppressants. Materials and methods. We analyzed the developmental history of a child with type 112/u and the medical records of an inpatient with type 003/u, suffering from Wegener's granulomatosis with systemic involvement. Results. The patient first developed symptoms at age 12, presenting with prolonged low-grade fever, an infrequent nonproductive cough, and nasal pain. A paranasal sinus radiograph revealed acute right-sided sinusitis, a chest radiograph revealed signs of right-sided pneumonia, and antibiotic therapy was ineffective. A complete blood count revealed signs of active inflammation, while a urinalysis revealed hematuria and proteinuria. Further immunodiagnostics revealed positive antineutrophil cytoplasmic antibodies to proteinase-3 and antibodies to lactoferrin. A bronchoscopy with biopsy was performed. Histological examination of the biopsy revealed severe panbronchitis with a vascular component and numerous granulomas. Systemic antineutrophil cytoplasmic antibodies associated vasculitis and generalized Wegener's granulomatosis were diagnosed in a cardiology and rheumatology hospital, and hormonal therapy was prescribed. Two years into treatment, drug-induced Itsenko – Cushing's syndrome, grade II obesity, hypogonadotropic hypogonadism, bilateral pseudogynecomastia, and growth retardation developed. Hormone replacement therapy with aromatase inhibitors was induced, producing a beneficial effect. Conclusion. This clinical observation demonstrates the development of systemic vasculitis involving the ENT organs, lungs, and kidneys, with nonspecific symptoms at onset. It demonstrates the need for in-depth diagnostics and evaluation of the effectiveness of the prescribed therapy.