Successful Management of Cryopyrin-Associated Periodic Syndrome With Canakinumab in Infancy

被引:8
作者
Kanariou, Maria [1 ,2 ]
Tantou, Sofia [1 ,2 ]
Varela, Ioanna [1 ,2 ]
Raptaki, Maria [1 ,2 ]
Petropoulou, Chrissa [3 ]
Nikas, Ioannis [4 ]
Valari, Manthoula [5 ]
机构
[1] Aghia Sophia Childrens Hosp, Specialized Ctr, Dept Immunol Histocompatibil, Athens, Greece
[2] Aghia Sophia Childrens Hosp, Referral Ctr Primary Immunodeficiencies Pediat Im, Athens, Greece
[3] Aghia Sophia Childrens Hosp, Neonatal ICU B, Athens, Greece
[4] Aghia Sophia Childrens Hosp, Dept Imaging, Athens, Greece
[5] Aghia Sophia Childrens Hosp, Dept Pediat Dermatol, Athens, Greece
关键词
aseptic meningitis; autoinflammatory disorder; cryopyrin; interleukin; 1; beta; canakinumab; NOMID; CINCA; CAPS; INTERLEUKIN-1 RECEPTOR ANTAGONIST; MULTISYSTEM INFLAMMATORY DISEASE; MUCKLE-WELLS-SYNDROME; CINCA SYNDROME; AUTOINFLAMMATORY SYNDROMES; ARTICULAR SYNDROME; SYNDROME CAPS; FOLLOW-UP; ANAKINRA; EFFICACY;
D O I
10.1542/peds.2013-3185
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a rare, early-onset autoinflammatory disorder and the most severe form of cryopyrin-associated periodic syndrome, which is associated with overproduction of interleukin (IL)-1 beta. This is a case report of a 70-day-old boy, who was diagnosed with NOMID/CINCA syndrome and who has been treated with anti-IL-1 beta monoclonal antibody (canakinumab) since then, despite his early infancy. The patient presented with fever, aseptic meningitis, and rash. The clinical manifestations combined with the elevated acute-phase reactants strengthened the suspicion of the diagnosis of NOMID/CINCA syndrome. Specific immunologic workup revealed high levels of serum amyloid A and IL-6. The clinical diagnosis was confirmed by the detection of a de novo mutation of the CIAS1/NLR3 gene (p.Thr348Met), and canakinumab was started at a dose of 4 mg/kg, higher than the recommended dose for older age. White blood cell, serum amyloid A, C-reactive protein, and IL-6 levels quickly decreased and became normal within a month, and the clinical condition of the patient improved significantly. The infant remains without recurrence of disease or further complications and with satisfactory mental development with anti-IL-1 beta monoclonal antibody treatment for >2 years. This report indicates the importance of early diagnosis of NOMID/CINCA syndrome and medication with IL-1 blockers as soon as possible for the improvement of the prognosis of cryopyrin-associated periodic syndrome and of a better patient outcome.
引用
收藏
页码:E1468 / E1473
页数:6
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