Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement

Marina Noris, Sara Bucchioni, Miriam Galbusera, Roberta Donadelli, Elena Bresin, Federica Castelletti, Jessica Caprioli, Simona Brioschi, Friedrich Scheiflinger, Giuseppe Remuzzi

Research output: Contribution to journalArticlepeer-review

Abstract

Thrombotic thrombocytopenic purpura is a rare disorder of small vessels that is associated with deficiency of the von Willebrand factor-cleaving protease ADAMTS13, which favors platelet adhesion and aggregation in the microcirculation. The disease manifests mainly with central nervous system symptoms, but cases of renal insufficiency have been reported. Presented are findings of the genetic basis of phenotype heterogeneity in thrombotic thrombocytopenic purpura in two sisters within one family. The patients had ADAMTS13 deficiency as a result of two heterozygous mutations (causing V88M and G1239V changes). In addition, a heterozygous mutation (causing an S890I change) in factor H of complement was found in the patient who developed chronic renal failure but not in her sister, who presented with exclusive neurologic symptoms.

Original languageEnglish
Pages (from-to)1177-1183
Number of pages7
JournalJournal of the American Society of Nephrology
Volume16
Issue number5
DOIs
Publication statusPublished - 2005

ASJC Scopus subject areas

  • Nephrology

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