Rehfeld Anders, van Steensel Maurice A M, Friis-Hansen Lennart
Rigshospitalet, Klinisk Biokemisk Afdeling KB 3011, og University Medical Centre Maastricht, Department of Dermatology, Holland.
Ugeskr Laeger. 2010 Jul 19;172(29):2085-90.
Birt-Hogg-Dubé (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind BHD-associated disease provides an opportunity for development of new treatment options.
Birt-Hogg-Dubé综合征（BHD）是一种罕见的常染色体显性遗传性皮肤病，其特征为皮肤错构瘤、肺囊肿、自发性气胸和肾肿瘤。BHD由编码卵泡抑素（FLCN）的基因突变引起。FLCN是mTOR-AMPK信号转导通路的一部分。现在可以对患者进行基因检测。此外，对BHD相关疾病背后的生物学和机制的了解为开发新的治疗方案提供了机会。
