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Plasma therapy in von Willebrand factor protease deficiency
Georges Deschênes1, Agnès Veyradier, Sylvie Cloarec
1Unité de Néphrologie Pédiatrique, Hôpital Gatien de Clocheville, 49 Boulevard Béranger, 37044 Tours, France. georges.deschenes@trs.ap-hop-paris.fr
Pediatric Nephrology (Berlin, Germany)
|October 12, 2002
Summary
Hereditary hemolytic uremic syndrome (HUS) caused by a protease deficiency can lead to severe kidney failure and neurological issues. Fresh-frozen plasma exchanges effectively managed HUS recurrence and prevented graft loss after transplantation.
Area of Science:
- Nephrology
- Hematology
- Genetics
Background:
- Hereditary hemolytic uremic syndrome (HUS) is a rare genetic disorder.
- Characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury.
- Constitutional deficiency in von Willebrand factor cleaving protease (ADAMTS13) is a known cause.
Observation:
- A patient presented with neonatal-onset relapsing HUS, jaundice, and hemolytic anemia.
- Progressed to end-stage renal failure at 14 years, experiencing a cerebrovascular accident on dialysis.
- Hematological parameters improved after bilateral nephrectomy.
Findings:
- Renal transplantation led to early HUS recurrence with retinal and cerebral ischemia.
- Long-term treatment with fresh-frozen plasma exchanges was initiated.
- This management prevented HUS recurrence, cerebrovascular events, and graft loss.
Implications:
- This case highlights the critical role of ADAMTS13 in HUS pathogenesis.
- Demonstrates the efficacy of fresh-frozen plasma exchanges in managing severe, relapsing HUS post-transplant.
- Suggests a potential therapeutic strategy for preventing complications in HUS patients.