Hereditary Kryopyrin-Associated Periodic Syndromes (Kyopyrinopathien)

The hereditary Kryopyrin-Associated Periodic Syndromes are a group of auto inflammatory conditions that are triggered by cold temperatures. They also include the familiar cold auto-inflammatory syndrome, Muckle-Wells syndrome and the onset in the neonatal period multisystemic auto-inflammatory disease.

Hereditary Kryopyrin-associated periodic syndromes represent a wide range of progressive serious diseases. Caused by mutations in the gene encoding the protein cryopyrin which engages in inflammation and in the processing of IL-1?. The Cryopyrin activity is increased, which causes an increased release of IL-1? from inflammasomes – with the result of inflammation and fever.

The hereditary Kryopyrin-Associated Periodic Syndromes are a group of auto inflammatory conditions that are triggered by cold temperatures. They also include the familiar cold auto-inflammatory syndrome, Muckle-Wells syndrome and the onset in the neonatal period multisystemic auto-inflammatory disease. Hereditary Kryopyrin-associated periodic syndromes represent a wide range of progressive serious diseases. Caused by mutations in the gene encoding the protein cryopyrin which engages in inflammation and in the processing of IL-1?. The Cryopyrin activity is increased, which causes an increased release of IL-1? from inflammasomes – with the result of inflammation and fever. Typically, the familial cold auto-inflammatory syndrome causes a cold-induced urticaria, accompanied by fever and sometimes joint pain. The condition often occurs in the first years of life. The Muckle-Wells syndrome causes intermittent fever, urticaria, joint pain and progressive deafness; 25% of patients develop renal amyloidosis. The neonatal-onset multisystem inflammatory disease car, in addition to fever, a migratory urticaria, joint and limb pain deformities, facial deformities, chronic meningitis, cerebral atrophy, delayed development and amyloidosis lead. 20% of patients die at the age of 20 years. Hereditary Kryopyrin-associated periodic syndromes are autosomal dominant diseases. They are treated with anakinra or etanercept.

Health Life Media Team

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