Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome

• Verfasst von: Ebrahimi-Fakhari, Darius [VerfasserIn]
• Verfasst von: Wahlster, Lara [VerfasserIn]
• Verfasst von: Mackensen, Friederike [VerfasserIn]
• Verfasst von: Blank, Norbert [VerfasserIn]
• Titel: Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome
• Verf.angabe: Darius Ebrahimi-Fakhari, Lara Wahlster, Friederike Mackensen, Norbert Blank
• E-Jahr: 2010
• Jahr: October 1, 2010
• Umfang: 2 S.
• Fussnoten: Gesehen am 27.02.2023
• Titel Quelle: Enthalten in: The journal of rheumatology
• Ort Quelle: Toronto, Ont., 2001
• Jahr Quelle: 2010
• Band/Heft Quelle: 37(2010), 10, Seite 2196-2197
• ISSN Quelle: 1499-2752
• DOI: doi:10.3899/jrheum.100290
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1837565406

Abstract

Chronic infantile neurological cutaneous and articular (CINCA) syndrome1 is a rare, genetic autoinflammatory disease that belongs to the spectrum of cryopyrin-associated periodic syndromes (CAPS), along with the familial cold autoinflammatory syndrome and the Muckle-Wells syndrome. CAPS are associated with autosomal-dominant mutations in the NLRP3 gene (formerly CIAS1), which encodes the protein cryopyrin2,3. Within the spectrum of CAPS, the CINCA syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID), is considered to be the most severe phenotype. A triad of urticarial rashes, neurological manifestations, and arthropathy, accompanied by recurrent fever episodes and systemic inflammation, originally defined CINCA syndrome1,4. Systemic AA-amyloidosis is a serious longterm complication that can lead to renal failure and increased mortality4.