title: Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome.
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.
authors.forename: Naoto
authors.initials: N
authors.lastname: Nishizaki
authors.forename: Shuichiro
authors.initials: S
authors.lastname: Fujinaga
authors.forename: Daishi
authors.initials: D
authors.lastname: Hirano
authors.forename: Hitohiko
authors.initials: H
authors.lastname: Murakami
authors.forename: Kouichi
authors.initials: K
authors.lastname: Kamei
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Ohtomo
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Shimizu
authors.forename: Kazunari
authors.initials: K
authors.lastname: Kaneko
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D015432:Glomerulonephritis, Membranoproliferative / Q000209:etiology* / Q000473:pathology; D006402:Hematologic Diseases / Q000150:complications*; D006801:Humans; D015837:Vestibular Diseases / Q000150:complications*