Ting S S, Ziegler J, Fischer E
Department of Immunology/Allergy, Sydney Children's Hospital, Nepean Hospital, NSW, Australia.
J Pediatr. 1998 Sep;133(3):450-2. doi: 10.1016/s0022-3476(98)70286-0.
Blau syndrome is a granulomatous disease of the skin, eyes, and joints, usually without visceral involvement. It is inherited in a autosomal dominant manner. The Blau susceptibility locus has been mapped to chromosome 16 p 12-q21. A recent report has added liver granulomata. We describe a family with Blau syndrome in whom 1 member had renal interstitial granulomata.
布劳综合征是一种皮肤、眼睛和关节的肉芽肿性疾病,通常不累及内脏。它以常染色体显性方式遗传。布劳易感基因座已被定位到16号染色体p12 - q21区域。最近的一份报告增加了肝脏肉芽肿的描述。我们描述了一个患有布劳综合征的家族,其中一名成员有肾间质肉芽肿。