Tanaka Hirokazu, Tenkumo Chiaki, Mori Nobuhiro, Kokame Koichi, Fujimura Yoshihiro, Hata Toshiyuki
Department of Perinatology and Gynecology, Kagawa University School of Medicine, Miki, Kagawa, Japan.
J Obstet Gynaecol Res. 2014 Jan;40(1):247-9. doi: 10.1111/jog.12125. Epub 2013 Aug 12.
Upshaw-Schulman syndrome (USS) involves a congenital deficiency of von Willebrand factor-cleaving metalloprotease (ADAMTS13) activity due to gene mutations. Female patients develop overt thrombotic thrombocytopenic purpura (TTP) caused by a decline of ADAMTS13 activity in pregnancy. A 23-year-old nulliparous Japanese woman died due to severe, rapid progression of TTP with intrauterine fetal death at 20 weeks of gestation after its onset, even though she underwent intensive treatment which included plasma exchange. She had a history of idiopathic thrombocytopenic purpura at the age of 3 years. The patient's ADAMTS13 activity was of very low level. It should be borne in mind that there is the possibility of rapidly progressive fulminant USS during pregnancy.
舒-舒综合征（USS）是由于基因突变导致血管性血友病因子裂解金属蛋白酶（ADAMTS13）活性先天性缺乏。女性患者在孕期因ADAMTS13活性下降而发生明显的血栓性血小板减少性紫癜（TTP）。一名23岁未生育的日本女性，尽管接受了包括血浆置换在内的强化治疗，但在发病后妊娠20周时，因TTP严重、快速进展并伴有宫内胎儿死亡而死亡。她3岁时曾有特发性血小板减少性紫癜病史。该患者的ADAMTS13活性极低。应牢记孕期有发生快速进展的暴发性USS的可能性。
