Secondary failure of plasma therapy in factor H deficiency.

Abstract

We report a patient with homozygous factor H deficiency leading to permanent alternate complement activation and early onset of the hemolytic uremic syndrome. He was successfully treated with weekly infusions of fresh frozen plasma over 4 years, displaying normal blood pressure while only treated with an angiotensin converting enzyme (ACE) inhibitor, a steady level of haptoglobin, low-range proteinuria and normal creatinine clearance. By the end of the fourth year of treatment, he dramatically developed a relapse of hemolytic and uremic syndrome, displaying undetectable haptoglobin, nephrotic range proteinuria and progressive renal failure. Despite a ten-fold increase in the dosage of plasma infusion through daily plasma exchange, haptoglobin remained undetectable while circulating antigenic factor H levels reached 22-24% (normal values 65-140%). Three months following the biological onset of the relapse, a bilateral nephrectomy was performed owing to uncontrolled hypertension and rapidly progressive renal failure. The molecular mechanism of plasma resistance remained unclear while antifactor H antibodies were not detected in the plasma. We suggest that protracted administration of exogenous factor H might not be a long-term strategy in homozygous factor H deficiency.

• Authors: Sylvie Nathanson, Tim Ulinski, Véronique Frémeaux-Bacchi, Georges Deschênes
• Journal: Pediatric nephrology (Berlin, Germany) (Pediatr Nephrol) Vol. 21 Issue 11 Pg. 1769-71 (Nov 2006) ISSN: 0931-041X [Print] Germany
• PMID: 16909242 (Publication Type: Case Reports, Journal Article)

Chemical References

• Haptoglobins
• Complement Factor H
• Creatinine

Topics

• Child
• Child, Preschool
• Complement Factor H (deficiency, genetics, therapeutic use)
• Creatinine (blood)
• Haptoglobins (metabolism)
• Hemolytic-Uremic Syndrome (etiology, genetics, therapy)
• Homozygote
• Humans
• Immunologic Deficiency Syndromes (complications, therapy)
• Male
• Plasma Exchange
• Renal Insufficiency (complications)
• Time Factors
• Treatment Failure