Congenital thrombotic thrombocytopenic purpura (cTTP) with two novel mutations

Timothy D. Prestidge, Erica Rurali, Louis Wadsworth, John K. Wu, Jane C. Moore, Elena Bresin

Research output: Contribution to journalArticle

Abstract

Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare disorder of childhood that has clinical and laboratory similarities to other, more common conditions. Prompt recognition is required as delays in therapy are associated with significant morbidity and failure to treat may lead to death. While the principles of treatment have not changed, enormous progress in the genetic and molecular understanding has taken place. Emerging treatment options may offer some hope of improved quality of life in future. We describe a Chinese patient with cTTP which resulted from two previously undescribed mutations in the ADAMTS13 gene.

Original languageEnglish
Pages (from-to)1296-1298
Number of pages3
JournalPediatric Blood and Cancer
Volume59
Issue number7
DOIs
Publication statusPublished - Dec 15 2012

Keywords

  • ADAMTS13 protein
  • Congential thrombotic thrombocytopenic purpura
  • Hematology
  • Pediatrics
  • Thrombotic microangiopathy

ASJC Scopus subject areas

  • Oncology
  • Pediatrics, Perinatology, and Child Health
  • Hematology

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