title: Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist.
abstract: Familial cold autoinflammatory syndrome (FCAS) is an autosomal dominant disorder characterized by episodic fever, arthralgias, conjunctivitis, and rash triggered by cold exposure. FCAS is rarely associated with progressive renal insufficiency caused by renal amyloidosis. The genetic defect in patients with this disorder is caused by a mutation in the gene encoding the protein cryopyrin, leading to uninhibited activation of systemic inflammation through specific cellular signaling with increased production of a number of key cytokines, including interleukin 1. We describe the successful treatment of a patient with renal amyloidosis caused by FCAS by using a novel interleukin 1-receptor antagonist. Use of specific anticytokine therapy may be a new paradigm in the treatment of patients with renal amyloidosis caused by systemic inflammatory diseases.
authors.affiliation: Division of Nephrology, University of California Davis Medical Center, La Jolla, CA, USA.
authors.forename: Brian D
authors.initials: BD
authors.lastname: Thornton
authors.forename: Hal M
authors.initials: HM
authors.lastname: Hoffman
authors.forename: Adarsh
authors.initials: A
authors.lastname: Bhat
authors.forename: Burl R
authors.initials: BR
authors.lastname: Don
mesh_terms: D000686:Amyloidosis / Q000188:drug therapy* / Q000209:etiology; D018771:Arthralgia / Q000150:complications / Q000235:genetics; D025063:Chromosome Disorders / Q000150:complications* / Q000235:genetics; D003080:Cold Temperature / Q000009:adverse effects; D003231:Conjunctivitis / Q000150:complications / Q000235:genetics; D005076:Exanthema / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D007674:Kidney Diseases / Q000188:drug therapy* / Q000209:etiology; D008875:Middle Aged; D017472:Receptors, Interleukin-1 / Q000037:antagonists & inhibitors*; D013577:Syndrome
chemical_list: D053590:Interleukin 1 Receptor Antagonist Protein; D017472:Receptors, Interleukin-1