关键词: 血栓性血小板减少性紫癜, ADAMTS13基因, 基因突变, 新生儿

Abstract:

To delineate the clinical and genetic profile of congenital thrombotic thrombocytopenic purpura (cTTP) with neonatal onset, aiming to enhance its early recognition and management. A retrospective analysis was conducted on two cTTP neonates diagnosed at our center, combined with a systematic review of 17 previously reported neonatal-onset cases in China. Both index patients presented with thrombocytopenia, jaundice, and anemia postnatally; one required surgical intervention for intracranial hemorrhage. Genetic analysis revealed compound heterozygous ADAMTS13 Mutations (Case 1: c.330+1G>A and c.929del; Case 2: c.2185C>T and c.2017A>T). Among the total 19 neonates (including our two cases), the core clinical manifestations were a triad of jaundice (94.7%), thrombocytopenia (89.5%), and anemia (89.5%). Biallelic pathogenic ADAMTS13 gene mutations were identified in all patients, predominantly loss-of-function types (57.9%). Notably, the splice-site mutation c.330+1G>A was recurrently found in four unrelated patients. Fourteen neonates (73.7%) underwent exchange transfusion, and the overall survival rate was 89.5% (17/19). cTTP should be highly suspected in neonates presenting with the triad of thrombocytopenia, jaundice, and anemia, particularly those requiring exchange transfusion or with a history of sibling death in the neonatal period. ADAMTS13 gene analysis is pivotal for definitive diagnosis. Early initiation and consistent maintenance of plasma-based therapy or targeted recombinant ADAMTS13 replacement are fundamental for improving outcomes.

Key words: thrombotic thrombocytopenic purpura, ADAMTS13 gene, gene mutation, neonate