More and more mutations are described and even somatic mutations that can explain some clinical signs beginning in adulthood. Mutations in the gene encoding cryopyrin, NLRP3, are associated with deregulation of caspase-1 activity, excessive interleukin-1 production and an autoinflammatory syndrome, which in familial cold urticaria and Muckle-Wells syndrome may be triggered or worsened by exposure to coldness. Autosomic dominant inheritance is present in most cases but in CINCA/NOMID syndrome where neomutations are more common. Quartier, P Rodrigues, F Georgin-Lavialle, SĬryopyrin-associated periodic syndromes (CAPS) are linked to one single gene mutations, however they are associated with 3 syndromes, which are, from the mildest to the most severe phenotype familial cold urticaria, Muckle-Wells syndrome and chronic, infantile, neurologic, cutaneous, articular (CINCA) syndrome also called neonatal-onset multisystem inflammatory disease (NOMID). It is important to be aware of cryopyrin-associated periodic syndrome because it can cause irreversible complications, and there is effective therapy. Twenty-one months after starting anakinra, the arthritis has disappeared, although nephrotic-range proteinuria persisted. A genetic study revealed the p.D303N mutation in the cryopyrin gene, and he was diagnosed as having AA amyloidosis due to CAPS. He was given anakinra with improvement of arthritis. Laboratory tests disclosed nephrotic syndrome, and renal biopsy showed AA amyloidosis. At the age of 35, he presented posterior uveitis, several episodes of conjunctivitis, and progressive loss of visual acuity. Past history: at the age of 20, he complained of arthralgia/arthritis and bilateral hypoacusis. A 53-year-old man was referred to us because of lower limb edema. AA amyloidosis is a complication of this syndrome. Nephrotic syndrome and AA amyloidosis revealing adult-onset cryopyrin-associated periodic syndrome.ĮnrÃquez, R Sirvent, A E Padilla, S Noguera-Pons, R Andrada, E Ardoy, F Millán, I Amorós, FĬryopyrin-associated periodic syndrome (CAPS) is due to gain-of-function mutations in the cryopyrin gene, which determines an overactive inflammatory response.
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