A compound heterozygous ADAMTS13 mutation causes congenital thrombotic thrombocytopenic purpura: a case report

A compound heterozygous ADAMTS13 mutation causes congenital thrombotic thrombocytopenic purpura: a case report

Congenital thrombotic thrombocytopenic purpura (cTTP) is a thrombotic microangiopathy (TMA) characterized by severe hereditary ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13) deficiency caused by ADAMTS13 mutations. This rare autosomal recessive genetic disorder i...

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Bibliographic Details
Main Authors: Yezi Huang, Lixia Zhou, Yuan Song, Wanting Zou, Aiping Tang, Si Tao, Duozhuang Tang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Medicine
Subjects:
congenital thrombotic thrombocytopenic purpura
ADAMTS13
thrombotic microangiopathy
sC5b-9
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2024.1525062/full
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