目的　探讨遗传性血栓性血小板减少性紫癜（TTP）的诊断及治疗。方法　回顾分析1例遗传性TTP患儿的 临床资料。结果　女性患儿，出生后不久即出现黄疸、易激惹、贫血、血小板减少、蛋白尿，并反复发作。基因测序显示， ADAMTS13基因外显子2个杂合突变，c.3616C>T(胞嘧啶>胸腺嘧啶)、c.334delG缺失突变，分别来自于父母，属于复合 杂合突变，符合常染色体隐性遗传规律。明确诊断为血栓性微血管病中的遗传性TTP。患儿先后多次复发，经输注血浆治 疗效果好。结论　临床上典型或不典型溶血性贫血，同时伴血小板减少、肾损害等应警惕遗传性TTP，基因检测有助诊断。 遗传性TTP可输注血浆治疗。

Objective　To explore the diagnosis and treatment of hereditary thrombocytopenic purpura (TTP). Method The clinical data of hereditary TTP in a child was retrospectively analyzed. Results　A girl suffered from recurrent jaundice, irritability, anemia, thrombocytopenia, and proteinuria soon after birth. Gene sequencing showed two heterozygous mutations in the exon of ADAMTS13 gene, c.3616C > T (cytosine > thymine) and c.334delG deletion mutations, which came from parents respectively, belonged to compound heterozygous mutations and accorded with autosomal recessive inheritance. The diagnosis of hereditary TTP of thrombotic microangiopathy was definitely made and it recurred many times. The therapeutic plasma infusion had good effect. Conclusion　In case of clinically typical or atypical hemolytic anemia accompanied by thrombocytopenia, kidney damage, clinician should be vigilant to possibility of hereditary TTP. Gene testing is helpful for diagnosis. The plasma infusion can be used to treat hereditary TTP.