Severe cryopyrin-associated periodic syndrome first characterized by early childhood-onset sensorineural hearing loss - Case report and literature review.

严重的冷冻比林相关的周期性综合征首先以儿童早期发作的感觉神经性听力损失为特征 - 病例报告和文献复习。

• 影响指数: 1.626
• 发表时间: May 2019
• 来源期刊: Int J Pediatr Otorhinolaryngol
• DOI: 10.1016/j.ijporl.2019.01.037
• PMID: 30772614
• 文章类型: Case Reports
• 中科院分区: Q4
• 方向: 医学
• 作者列表: Hui A,Johnson LB,Greemberg R,Penney L,Ramsey SE

关键词: Anakinra; Canakinumab; Cryopyrin-associated periodic syndrome; Neonatal-Onset Multisystem Inflammatory Disease; Sensorineural hearing loss

Mesh: Audiometry; Child; Cryopyrin-Associated Periodic Syndromes / complications diagnosis drug therapy; Hearing Loss, Sensorineural / etiology; Humans; Interleukin 1 Receptor Antagonist Protein / therapeutic use; Male; Mutation; NLR Family, Pyrin Domain-Containing 3 Protein / genetics

Abstract

Infant-onset bilateral sensorineural hearing loss is a key presenting symptom of the autoinflammatory cryopyrin-associated periodic syndrome. Other symptoms include periodic fever, cold-induced urticaria-like rash, chronic aseptic meningitis, polyarticular arthralgias, and renal AA amyloidosis. Early recognition and treatment with interleukin-1 blockade are critical for preventing disabling or fatal complications. We describe a patient with severe cryopyrin-associated periodic syndrome who presented at age 18 months with macrocephaly and moderate sensorineural hearing loss, later developing systemic sequelae. The pathogenic nature of the de novo NLRP3 gene variant identified was supported by a markedly elevated serum amyloid A level and sustained clinical response to anti-IL-1 therapy.

摘要

婴儿发作的双侧感音神经性听力损失是自身炎性冷冻比林相关周期性综合征的主要表现症状。其他症状包括周期性发烧，寒冷诱发的荨麻疹样皮疹，慢性无菌性脑膜炎，多关节关节痛，和肾AA淀粉样变性。白细胞介素-1阻断的早期识别和治疗对于预防致残或致命并发症至关重要。我们描述了一名患有严重的冷冻比林相关周期性综合征的患者，该患者在18个月大时出现了大头畸形和中度感觉神经性听力损失。后来发展为全身性后遗症。从头鉴定的NLRP3基因变体的致病性质得到显著升高的血清淀粉样蛋白A水平和对抗IL-1治疗的持续临床反应的支持。