关键词: 溶血性贫血；　血小板减少；　肾脏损害；　基因突变；　治疗

Abstract: 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.

Key words: 　hemolytic anemia;　thrombocytopenia;　kidney damage;　genetic mutation;　therapy