An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review.

ABSTRACT:

Background

Mutations in the ADAMTS13 gene can lead to an ADAMTS13 enzyme deficiency, which is related to Upshaw-Schulman syndrome (USS). USS is a common type of thrombotic thrombocytopenic purpura (TTP). Here we present a very rare case of TTP caused by 2 mutations in the ADAMTS13 gene. Besides, we reviewed and summarized previous pathogenic ADAMTS13 gene mutations associated with the TTP.

Case presentation

A 10-year-old female was admitted to the Third Xiangya Hospital of Central South University after experiencing discontinuous thrombocytopenia for 8 years, abnormal renal function for more than 2 years, cough for more than 10 days, and weakness of the left limb for 3 days. Gene sequencing shows the patient's ADAMTS13 gene contains compound heterozygous nucleotide variation

SUBMITTER: Li P 

PROVIDER: S-EPMC8549186 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature