Mary Underwood

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BACKGROUND AND OBJECTIVES Acute renal impairment is observed in 11%-23% of patients with congenital thrombotic thrombocytopenic purpura (TTP) and deficiency of a disintegrin and metalloprotease with thrombospondin motifs 13 (ADAMTS13, a metalloprotease that cleaves von Willebrand factor [VWF] multimers), a substantial percentage of whom develop CKD during(More)
Pregnancy can precipitate thrombotic thrombocytopenic purpura (TTP). We present a prospective study of TTP cases from the United Kingdom Thrombotic Thrombocytopenic Purpura (UK TTP) Registry with clinical and laboratory data from the largest cohort of pregnancy-associated TTP and describe management through pregnancy, averting fetal loss and maternal(More)
Congenital thrombotic thrombocytopenic purpura (TTP) is an inherited disease caused by mutations in the ADAMTS 13 gene and has been reported to have diverse ages of presentation, ranging from the newborn period to adulthood. Herein, we present three cases of congenital TTP who were symptomatic during childhood (neonatal period, 7 and 10 years) and were each(More)
INTRODUCTION Over 150 mutations have been identified in the ADAMTS13 gene in patients with congenital thrombotic thrombocytopenic purpura (TTP). The majority of these (86%), lead to reduced (<50%) secretion of mutant recombinant ADAMTS13. The mechanism by which this occurs has not been investigated in vitro. Two novel ADAMTS13 mutations (p.I143T and(More)
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