Nonclassic neurologic features in cryopyrin-associated periodic syndromes.
作者： Tracy V. Ting , Lisabeth V. Scalzi , Philip J. Hashkes
DOI: 10.1016/J.PEDIATRNEUROL.2006.12.008
关键词: Periodic syndrome 、 Pathology 、 Anakinra 、 Elevated inflammatory markers 、 Dermatology 、 Cryopyrin-associated periodic syndrome 、 Medicine 、 Autoinflammatory Syndrome
摘要: Neurologic manifestations in early childhood occur the cryopyrin-associated periodic syndromes, especially chronic infantile neurological, cutaneous, and articular syndrome (CINCA) Muckle-Wells syndrome. Cryopyrin-associated syndromes are commonly linked to mutations cold-induced autoinflammatory gene CIAS1 (current symbol, NLRP3) on chromosome 1. We describe three children with atypical neurologic symptoms, a Q705K mutation. screening should be considered for other symptoms elevated inflammatory markers. This is treatable anakinra.
pedneur.com
elsevier.com参考文章(10)
Hal M. Hoffman, James L. Mueller, David H. Broide, Alan A. Wanderer, Richard D. Kolodner, Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nature Genetics. ,vol. 29, pp. 301- 305 ,(2001) , 10.1038/NG756
Angela Rösen-Wolff, Jürgen Quietzsch, Heinz Schröder, Romy Lehmann, Manfred Gahr, Joachim Roesler, Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment European Journal of Haematology. ,vol. 71, pp. 215- 219 ,(2003) , 10.1034/J.1600-0609.2003.00109.X
Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A. Wanderer, Richard D. Kolodner, Identification of a locus on chromosome 1q44 for familial cold urticaria American Journal of Human Genetics. ,vol. 66, pp. 1693- 1698 ,(2000) , 10.1086/302874
Gönke Pörksen, Peter Lohse, Angela Rösen-Wolff, Stefan Heyden, Theresa Förster, Jörg Wendisch, Georg Heubner, Horst von Bernuth, Svea Sallmann, Manfred Gahr, Joachim Roesler, Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome. European Journal of Haematology. ,vol. 73, pp. 123- 127 ,(2004) , 10.1111/J.1600-0609.2004.00270.X
Tadashi Matsubayashi, Hiroshi Sugiura, Takashi Arai, Tsutomu Oh-Ishi, Yasuji Inamo, Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene Acta Paediatrica. ,vol. 95, pp. 246- 249 ,(2006) , 10.1080/08035250500341451
Keith M. Hull, Nitza Shoham, Jae Jin Chae, Ivona Aksentijevich, Daniel L. Kastner, The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Current Opinion in Rheumatology. ,vol. 15, pp. 61- 69 ,(2003) , 10.1097/00002281-200301000-00011
D. Rigante, V. Ansuini, M. Caldarelli, B. Bertoni, I. La Torraca, A. Stabile, Hydrocephalus in CINCA syndrome treated with anakinra Childs Nervous System. ,vol. 22, pp. 334- 337 ,(2006) , 10.1007/S00381-006-1280-3
James N. Jarvis, Kathleen O'Neil, Richard K. Vehe, Laurie O. Beitz, Gregory Gardner, William P. Hannan, Robert W. Warren, William Horn, Joe L. Cole, Scott M. Paul, Philip N. Hawkins, Tuyet Hang Pham, Christopher Snyder, Robert A. Wesley, Steven C. Hoffmann, Steven M. Holland, John A. Butman, Daniel L. Kastner, Raphaela Goldbach-Mansky, Natalie J. Dailey, Scott W. Canna, Ana Gelabert, Janet Jones, Benjamin I. Rubin, H. Jeffrey Kim, Carmen Brewer, Christopher Zalewski, Edythe Wiggs, Suvimol Hill, Maria L. Turner, Barbara I. Karp, Ivona Aksentijevich, Frank Pucino, Scott R. Penzak, Margje H. Haverkamp, Leonard Stein, Barbara S. Adams, Terry L. Moore, Robert C. Fuhlbrigge, Bracha Shaham, Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition The New England Journal of Medicine. ,vol. 355, pp. 581- 592 ,(2006) , 10.1056/NEJMOA055137
Ivona Aksentijevich, Miroslawa Nowak, Mustapha Mallah, Jae Jin Chae, Wendy T. Watford, Sigrun R. Hofmann, Leonard Stein, Ricardo Russo, Donald Goldsmith, Peter Dent, Helene F. Rosenberg, Frances Austin, Elaine F. Remmers, James E. Balow, Sergio Rosenzweig, Hirsh Komarow, Nitza G. Shoham, Geryl Wood, Janet Jones, Nadira Mangra, Hector Carrero, Barbara S. Adams, Terry L. Moore, Kenneth Schikler, Hal Hoffman, Daniel J. Lovell, Robert Lipnick, Karyl Barron, John J. O'Shea, Daniel L. Kastner, Raphaela Goldbach-Mansky, De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis & Rheumatism. ,vol. 46, pp. 3340- 3348 ,(2002) , 10.1002/ART.10688
Lovell Dj, Hashkes Pj, Recognition of infantile-onset multisystem inflammatory disease as a unique entity. The Journal of Pediatrics. ,vol. 130, pp. 513- 515 ,(1997)