title: Congenital thrombotic thrombocytopenic purpura (cTTP) with two novel mutations.
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.
authors.affiliation: Blood and Cancer Centre, Starship Children's Hospital, Auckland, New Zealand. timp@adhb.govt.nz
authors.forename: Timothy D
authors.initials: TD
authors.lastname: Prestidge
authors.forename: Erica
authors.initials: E
authors.lastname: Rurali
authors.forename: Louis
authors.initials: L
authors.lastname: Wadsworth
authors.forename: John K
authors.initials: JK
authors.lastname: Wu
authors.forename: Jane C
authors.initials: JC
authors.lastname: Moore
authors.forename: Elena
authors.initials: E
authors.lastname: Bresin
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000071120:ADAMTS13 Protein; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D011697:Purpura, Thrombotic Thrombocytopenic / Q000235:genetics* / Q000628:therapy
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human