ADAMTS13 Secretion and Residual Activity among Patients with Congenital Thrombotic Thrombocytopenic Purpura with and without Renal Impairment

Clinical Journal of the American Society of Nephrology : CJASN
Erica RuraliMarina Noris

Abstract

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 follow-up. Here we investigated whether, in 18 patients with congenital recruited from 1996 to 2013 who fulfilled inclusion criteria, acute renal involvement occurred during bouts segregated with lower secretion and activity levels of ADAMTS13 mutants. We performed expression studies and a sensitive recombinant VWF (rVWF) A1-A2-A3 cleavage test (detection limit, 0.78% of normal ADAMTS13 activity). A higher risk of acute renal impairment during bouts was observed in patients with childhood (<18 years) onset (odds ratio [OR], 24.6 [95% confidence interval (CI), 1.11 to 542.44]) or a relapsing (≥1 episode per year) disease (OR, 54.6 [95% CI, 2.25 to 1326.28]) than in patients with adulthood onset or long-lasting remission, respectively. Whatever the age at onset, patients with acute renal impairment had mutations different from those in patients without renal involvement. Moreover, mutations in patients w...Continue Reading

References

Jan 18, 1969·British Medical Journal·I S Menon, S P Rastogi
Jul 20, 2002·Blood·Giuseppe RemuzziUNKNOWN Italian Registry of Recurrent and Familial HUS/TTP. Thrombotic thrombocytopenic purpura/hemolytic uremic syndrome
Jun 3, 2004·Journal of Medical Genetics·V Fremeaux-BacchiW H Fridman
Apr 1, 2005·Journal of the American Society of Nephrology : JASN·Marina NorisUNKNOWN International Registry of Recurrent and Familial HUS/TTP
Apr 1, 2006·Seminars in Thrombosis and Hemostasis·Miriam GalbuseraGiuseppe Remuzzi
Jun 27, 2006·Journal of Thrombosis and Haemostasis : JTH·Z TaoJ-F Dong
Sep 28, 2006·Thrombosis and Haemostasis·Roberta DonadelliUNKNOWN International Registry of Recurrent and Familial HUS/TTP
Apr 7, 2007·Current Opinion in Hematology·Jing-fei Dong
Jul 28, 2007·Journal of Zhejiang University. Science. B·Xing-guo LuXiao-ying Zhao
Jun 25, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Chantal LoiratAgnès Veyradier
Aug 13, 2008·Current Opinion in Hematology·Johanna A Kremer Hovinga, Sara C Meyer
Oct 7, 2008·Haematologica·Isabella GaragiolaFlora Peyvandi
Feb 3, 2009·Haematologica·Miriam GalbuseraGiuseppe Remuzzi
Jan 9, 2010·International Journal of Hematology·Han-Mou Tsai
May 7, 2010·Clinical and Translational Science·Joel Moake
Nov 26, 2010·Thrombosis and Haemostasis·Roberta PallaFlora Peyvandi
Feb 21, 2013·Current Opinion in Pediatrics·Chantal LoiratAgnès Veyradier
Feb 19, 2014·Blood Reviews·Spero R Cataland, Haifeng M Wu
May 13, 2014·Seminars in Thrombosis and Hemostasis·Wolf Achim HassenpflugReinhard Schneppenheim
Dec 3, 2014·Medical Hypotheses·Silvia Hoirisch-Clapauch, Antonio Egidio Nardi

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Citations

Jun 28, 2017·The Journal of Immunology : Official Journal of the American Association of Immunologists·Serena BettoniMarina Noris
Feb 15, 2019·Journal of Thrombosis and Haemostasis : JTH·Barbara FerrariFlora Peyvandi
Jul 6, 2016·Journal of Thrombosis and Thrombolysis·Giulia Berti de MarinisAnna Maria Lombardi
Jul 28, 2017·Frontiers in Medicine·Andrea AngelettiKirk N Campbell

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