Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome.

[kabuki syndrome]

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 .