Kinoshita S, Yoshioka A, Park Y D, Ishizashi H, Konno M, Funato M, Matsui T, Titani K, Yagi H, Matsumoto M, Fujimura Y
Department of Pediatrics, Nara Medical University, Kashihara City, Japan.
Int J Hematol. 2001 Jul;74(1):101-8. doi: 10.1007/BF02982558.
Upshaw-Schulman syndrome (USS) is a congenital bleeding disorder characterized by repeated episodes of thrombocytopenia and microangiopathic hemolytic anemia that respond to infusions of fresh frozen plasma. Inheritance of USS has been thought to be autosomal recessive, because 2 siblings in the same family are often affected but their parents are asymptomatic. Recently, chronic relapsing thrombotic thrombocytopenic purpura (CR-TTP), reported almost exclusively in adults, was shown to be caused by inherited or acquired deficiency in the activity of a plasma von Willebrand factor-cleaving protease (vWF-CPase). The pathogenesis of USS is unknown, and a relationship between CR-YEP and USS has not been reported. We studied 3 unrelated USS patients (ST, SY, and KI) who presented with severe indirect neonatal hyperbilirubinemia. All 3 patients had undetectable vWF-CPase activity, and the inhibitors to vWF-CPase were all negative. In their parents with no clinical symptoms, vWF-CPase activities as a percentage of control samples (mother/father) were 17/20 for ST, 60/45 for SY, and 36/5.6 for KI. Thus, USS and vWF-CPase activity appear to be coinherited as autosomal recessive traits. Transfusion of fresh frozen plasma in 2 patients (ST and SY) resulted in the expected maximal increment of approximately 7% to 8% in vWF-CPase activity at 1 to 4 hours, but the levels became less than 3% within 2 days. After this decrease, platelet counts increased, plateaued in the normal range at 10 to 12 days, and declined thereafter. Thus, the 2 to 3 weeks of therapeutic benefit from plasma infusions will be discussed in relation to the intravascular lifetime of vWF-CPase.
舒-舒综合征（USS）是一种先天性出血性疾病，其特征为反复出现血小板减少和微血管病性溶血性贫血，输注新鲜冰冻血浆后症状可缓解。USS的遗传方式一直被认为是常染色体隐性遗传，因为同一家族中的两个兄弟姐妹常受影响，但其父母并无症状。最近，几乎仅在成人中报道的慢性复发性血栓性血小板减少性紫癜（CR-TTP）被证明是由血浆血管性血友病因子裂解蛋白酶（vWF-CPase）活性的遗传性或获得性缺乏所致。USS的发病机制尚不清楚，CR-TTP与USS之间的关系也未见报道。我们研究了3例无关的USS患者（ST、SY和KI），他们均出现严重的间接性新生儿高胆红素血症。所有3例患者的vWF-CPase活性均检测不到，且vWF-CPase抑制剂均为阴性。在其无症状的父母中，vWF-CPase活性相对于对照样本（母亲/父亲）的百分比，ST为17/20，SY为60/45，KI为36/5.6。因此，USS和vWF-CPase活性似乎作为常染色体隐性性状共同遗传。2例患者（ST和SY）输注新鲜冰冻血浆后，vWF-CPase活性在1至4小时内预期最大增幅约为7%至8%，但2天内该水平降至3%以下。在这种下降之后，血小板计数增加，在10至12天达到正常范围并趋于平稳，此后下降。因此，将结合vWF-CPase在血管内的寿命来讨论血浆输注2至3周的治疗益处。
