先天性TTP迟发：病例介绍和文献综述

摘要(中文译文)

先天性血栓性血小板减少性紫癜（cTTP）是一种极为罕见的遗传性疾病，由ADAMTS13酶活性降低或缺失引起。与由针对ADAMTS13的抑制性自身抗体引起的获得性TTP相反，cTTP是由于ADAMTS13基因突变引起的，并且缺乏此类抑制剂。cTTP通常在婴儿期通过反复发作的溶血性贫血和微血管损伤的迹象表现出来。发作通常是由感染或身体压力引起的。一名23岁的女性患者因微血管病性溶血性贫血（MAHA）、血小板计数减少和急性肾损伤3期（AKI 3）来到急诊室。三天前，她膝盖受伤，用芬太尼治疗。外周血涂片显示许多片状细胞。怀疑是血栓性微血管病，并启动了治疗性血浆置换（TPE）。入院时ADAMTS13活性为4%，未检测到抑制性抗体，怀疑存在遗传性ADAMTS13缺陷。基因检测显示ADAMTS13基因中有2个可能的复合杂合变异，证实了cTTP的诊断。3次TPE后，血小板计数随着肾功能的改善而显著升高。此后，患者每2至3天接受一次预防性血浆输注 周。在1年的随访中，她的肾功能正常，溶血性贫血没有复发。目前的cTTP病例以首次出现时发病晚而闻名，伴有异常严重的肾功能损害。快速诊断和及时开始治疗至关重要。必须排除恶性高血压、败血症和系统性红斑狼疮等自身免疫性疾病等鉴别诊断。

Abstract

Congential thrombotic thrombocytopenic purpura (cTTP) is a ultrarare genetic disorder caused by reduced or absent ADAMTS13 enzyme activity. In contrast to the acquired form of TTP, which results from inhibitory autoantibodies against ADAMTS13, cTTP arises due to mutations in the ADAMTS13 gene and lacks such inhibitors. cTTP commonly manifests during infancy through recurrent episodes of hemolytic anemia and signs of microvascular damage. Episodes are often precipitated by infections or physical stressors. A 23-year-old female patient presented to the emergency department with microangiopathic hemolytic anemia (MAHA), a reduced platelet count and acute kidney injury stage 3 (AKI 3). Three days before she had suffered a knee injury, which was treated with fentanyl. The peripheral-blood smear showed many schistocytes. A thrombotic microangiopathy was suspected and therapeutic plasma exchange (TPE) was initiated. ADAMTS13 activity on admission was 4% without a detectable inhibitory antibody and an inherited ADAMTS13 deficiency was suspected. Genetic testing revealed 2 presumably compound heterozygous variants in the ADAMTS13 gene, confirming the diagnosis of cTTP. After 3 TPE platelet count raised significantly with improvement of renal function. Thereafter the patient received prophylactic plasma infusions every 2 to 3 weeks. At 1-year follow-up she had a normal renal function and no recurrence of hemolytic anemia. The present case of cTTP is notable for its late onset at first presentation, with unusual severe renal impairment. Rapid diagnosis and timely initiation of treatment are critical. Differential diagnoses such as malignant hypertension, sepsis, and autoimmune diseases like systemic lupus erythematosus must be excluded.

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