Upshaw-Schulman syndrome revisited: A concept of congenital thrombotic thrombocytopenic purpura
Upshaw-Schulman syndrome revisited: A concept of congenital thrombotic thrombocytopenic purpura
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DOI：
10.1007/bf02982558
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发表时间：
2001-07-01
影响因子：
2.1
通讯作者：
Fujimura, Y
中科院分区：
文献类型：
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作者：
Kinoshita, S;Yoshioka, A;Fujimura, Y
Upshaw-Schulman综合征(USS)是一种先天性出血性疾病，其特征是反复发作的血小板减少和微血管病理性溶血性贫血，对新鲜冰冻血浆输注有反应。USS的遗传一直被认为是常染色体隐性遗传，因为同一家庭中的两个兄弟姐妹经常受到影响，但他们的父母没有症状。近年来，慢性复发性血栓性血小板减少性紫癜(CR-TTP)被认为是由于遗传性或获得性血浆von Willebrand因子裂解酶(vWF-CPase)活性缺陷所致，几乎仅见于成人。USS的发病机制尚不清楚，CR-TTP与USS的关系尚未见报道。我们研究了3名无血缘关系的USS患者(ST、SY和KI)，他们表现为严重的间接高胆红素血症。3例患者均未检测到vWF-CPase活性，vWF-CPase抑制剂均为阴性。在无临床症状的父母中，vWF-CPase活性占对照样本(母亲/父亲)的百分比分别为ST组17/20，SY组60/45，KI组36/5.6。因此，USS和vWF-CPase活性似乎是作为常染色体隐性性状共同遗传的。2例患者(ST和SY)输注新鲜冰冻血浆后，vWF-CPase活性在1~4小时内最大升高约7%~8%，但在2天内升高不到3%。在这一下降之后，血小板计数增加，在10-12天内稳定在正常范围内，然后下降。因此，输注血浆的2到3周的治疗益处将与vWF-CPase的血管内寿命有关。(C)2001年日本血液病学会。
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-TTP and USS has not been reported. We studied 3 unrelated USS patients (ST, SY, and KI) who presented with severe indirect neonatal hyperbilirubimenia. 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. (C) 2001 The Japanese Society of Hematology.