Renal involvement in secondary amyloidosis of Muckle-Wells syndrome: marked improvement of renal function and reduction of proteinuria after therapy with human anti-interleukin-1β monoclonal antibody canakinumab

Clin Rheumatol. 2015 Jul;34(7):1311-6. doi: 10.1007/s10067-013-2481-2. Epub 2014 Feb 9.

Abstract

Muckle-Wells syndrome (MWS) is a rare hereditary autoinflammatory disorder characterized by recurrent urticaria-like skin rashes, arthralgias, conjunctivitis, hypoacusia, and risk of reactive AA amyloidosis due to the progressive accumulation of amyloid fibrils in different organs. Its genetic defect lies in mutations in the NLRP3 gene, encoding the cryopyrin protein, and resulting in interleukin (IL)-1β oversecretion. Renal involvement, in terms of proteinuria or renal insufficiency, can be observed in up to 25% of patients. Herein, we describe our experience with two Caucasian patients, father and son, aged 52 and 26 years, respectively, heterozygous for both V198M and R260W NLRP3 mutations who had AA amyloid deposits on renal biopsy. The fully human monoclonal antibody canakinumab, providing selective and prolonged IL-1β blockade, was administered in both patients every 60 days over a period of 18 months. This treatment allowed to obtain amazing results: a rapid disappearance of any clinical symptoms, the stable normalization of serum amyloid-A and, furthermore, a marked improvement of glomerular filtration rate and proteinuria with no adverse events. Our data, though limited to only two patients, emphasize that therapeutic intervention with canakinumab, suppressing both inflammation and IL-1β-mediated manifestations, can contribute to improve kidney function in MWS with overt renal amyloidosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amyloidosis / complications*
  • Amyloidosis / therapy
  • Antibodies, Monoclonal / chemistry
  • Antibodies, Monoclonal / therapeutic use
  • Antibodies, Monoclonal, Humanized
  • Antirheumatic Agents / therapeutic use
  • Cryopyrin-Associated Periodic Syndromes / complications*
  • Cryopyrin-Associated Periodic Syndromes / therapy*
  • Family Health
  • Glomerular Filtration Rate
  • Heterozygote
  • Humans
  • Inflammation
  • Interleukin-1beta / metabolism
  • Kidney Diseases / complications*
  • Kidney Diseases / therapy
  • Male
  • Middle Aged
  • Mutation
  • Proteinuria / complications
  • Proteinuria / drug therapy
  • Renal Insufficiency / complications
  • Serum Amyloid A Protein / metabolism

Substances

  • Antibodies, Monoclonal
  • Antibodies, Monoclonal, Humanized
  • Antirheumatic Agents
  • Interleukin-1beta
  • Serum Amyloid A Protein
  • canakinumab