Thrombotic Thrombocytopenic Purpura, Hereditary (TTP)

遗传性血栓性血小板减少性紫癜(来自ICD-11)

别称:

Upshaw-Schulman Syndrome

Microangiopathic Hemolytic Anemia

Congenital Thrombotic Thrombocytopenic Purpura

Thrombotic Thrombocytopenic Purpura, Familial

Thrombotic Microangiopathy, Familial

Congenital Adamts-13 Deficiency

Schulman-Upshaw Syndrome

Congenital Ttp

Familial Ttp

Ttp

Uss

Thrombotic Thrombocytopenic Purpura, Hereditary, Infantile- or Adult-Onset

Thrombocytopenic Purpura, Thrombotic, Congenital

Thrombotic Thrombocytopenic Purpura, Congenital

Microangiopathic Hemolytic Anemia, Congenital

Microangiopathic Hemolytic Anemia Congenital

Thrombotic Thrombocytopenic Purpura Familial

Purpura, Thrombotic Thrombocytopenic

Thrombotic Microangiopathy Familial

Anemia Hemolytic Microangiopathic

Upshaw Factor, Deficiency of

Deficiency of Upshaw Factor

Upshaw-Schülman Syndrome

Moschkowitz Disease

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

血栓性血小板减少性紫癜，遗传性，又称 Upshaw-Schulman 综合征，与血栓性血小板减少性紫癜和重度子痫前期有关，症状包括发热和震颤。与血栓性血小板减少性紫癜，遗传性有关的重要基因是 ADAMTS13（ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13）。在该疾病的背景下，已提到的药物包括泼尼松和泼尼松醋酸酯。附属组织包括骨髓和肾脏，相关表型为呼吸困难和黄疸。

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