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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[A rare manifestation of an inflammatory rheumatic systemic disease]
Ole Hudowenz1,2, Malte Knabe3, Kirsten de Groot3
1Abteilung für Rheumatologie und klinische Immunologie, Kerckhoff-Klinik, Benekestr. 2-8, 61231, Bad Nauheim, Deutschland. info@kerckhoff-klinik.de.
Abstract:
Granulomatosis with polyangiitis (GPA) is an ANCA(anti-neutrophil cytoplasmatic antibody)-associated small vessel vasculitis usually affecting the respiratory tract and the kidneys. This article reports on a 46-year-old male patient with a rare organ manifestation pattern of GPA: besides a fulminantly progressive tetraparesis the patient suffered from severe ulcerative colitis. The early diagnosis of GPA with unusual findings and its delineation from a septic event is essential.
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