Ruan Yangming, Ge Ting, Wang Yizhong, Zhang Ting, Song Feifei
Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
Front Pediatr. 2025 Aug 7;13:1411603. doi: 10.3389/fped.2025.1411603. eCollection 2025.
NLR family pyrin domain containing 3 (NLRP3)-associated autoinflammatory disease (NLRP3-AID), formerly known as cryopyrin-associated periodic syndrome, is a group of AIDs comprising neonatal-onset multisystem inflammatory disorder, Muckle-Wells syndrome, and familial cold autoinflammatory syndrome. Mutations in the NLRP3 gene are considered central to its pathogenesis.
Here, we present a Chinese infant diagnosed with severe NLRP3-AID who carried a heterozygous variant in the NLRP3 gene. The patient exhibited recurrent episodes of fever, urticaria-like rashes, aseptic meningitis, and hearing loss. During hospitalization, elevated inflammatory markers and leukocytosis in body fluids were observed without evidence of infection. DNA sequencing identified a heterozygous mutation, c.1006A > G (p.I336V), in the NLRP3 gene.
We report an infant with NLRP3-AID and emphasize the importance of early diagnosis based on clinical manifestations.
含NLR家族pyrin结构域蛋白3（NLRP3）相关自身炎症性疾病（NLRP3-AID），以前称为冷吡啉相关周期性综合征，是一组自身炎症性疾病，包括新生儿期多系统炎症性疾病、穆克-韦尔斯综合征和家族性冷自身炎症综合征。NLRP3基因突变被认为是其发病机制的核心。
在此，我们报告一名被诊断患有严重NLRP3-AID的中国婴儿，其NLRP3基因存在杂合变异。该患者表现为反复发热、荨麻疹样皮疹、无菌性脑膜炎和听力丧失。住院期间，观察到体液中炎症标志物升高和白细胞增多，但无感染证据。DNA测序在NLRP3基因中鉴定出一个杂合突变，即c.1006A＞G（p.I336V）。
我们报告了一名患有NLRP3-AID的婴儿，并强调基于临床表现进行早期诊断的重要性。
