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- W2034647466 abstract "First described in Japanese patients, Kabuki syndrome (KS) is a congenital condition associated with multiple anomalies and mental retardation. Although urological and immune abnormalities are common in KS, immune complex nephritis such as membranoproliferative glomerulonephritis (MPGN) has not yet been reported. We describe the first reported case of a KS patient with common variable immunodeficiency (CVI) and recurrent otitis media who developed severe proteinuria and hematuria due to MPGN Type 3 detected during the school urinary screening program in Japan. The patient was intravenously treated with methylprednisolone pulses followed by alternate-day prednisolone and an angiotensin receptor blocker. The patient showed remarkable improvement in both histological and urinary analyses. This case report suggests that immune abnormalities associated with KS can play an important role in the development of MPGN. Urinalysis should be regularly performed in KS patients with hypogammaglobulinemia and/or recurrent infection." @default.
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- W2034647466 date "2014-05-01" @default.
- W2034647466 modified "2023-09-26" @default.
- W2034647466 title "Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome" @default.
- W2034647466 doi "https://doi.org/10.5414/cn107464" @default.
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