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<p>A 24-year-old female patient with a 4-year history of recurrent abdominal pain, diarrhea, periodic fever and elevated C-reactive protein was referred to our institution. Colonoscopy, esophago-gastro-duodenoscopy, capsule endoscopy and contrast-enhanced CT showed no significant findings. Because she and her mother had sensorineural hearing loss, a diagnosis of cryopyrin-associated periodic syndrome was suspected. Genetic testing of the patient and her mother revealed a candidate germline variant of <i>NLRP3</i>. The patient was commenced on subcutaneous 150&#xa0;mg canakinumab, a fully human monoclonal antibody targeting IL-1β, at a dose of 150&#xa0;mg every 8 weeks, which resulted in the persistence of sensorineural hearing loss but led to the complete disappearance of her abdominal symptoms and periodic fever.</p>

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A case of cryopyrin-associated periodic syndrome presenting with abdominal symptoms due to a novel mutation NLRP3 p.Ile257Met

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月17日

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  • Yo Komatsu,
  • Tomofumi Oizumi,
  • Shun-ichi Yanai,
  • Yumiko Kobayashi,
  • Shin-ya Nishio,
  • Shin-ichi Usami,
  • Takayuki Matsumoto

摘要

A 24-year-old female patient with a 4-year history of recurrent abdominal pain, diarrhea, periodic fever and elevated C-reactive protein was referred to our institution. Colonoscopy, esophago-gastro-duodenoscopy, capsule endoscopy and contrast-enhanced CT showed no significant findings. Because she and her mother had sensorineural hearing loss, a diagnosis of cryopyrin-associated periodic syndrome was suspected. Genetic testing of the patient and her mother revealed a candidate germline variant of NLRP3. The patient was commenced on subcutaneous 150 mg canakinumab, a fully human monoclonal antibody targeting IL-1β, at a dose of 150 mg every 8 weeks, which resulted in the persistence of sensorineural hearing loss but led to the complete disappearance of her abdominal symptoms and periodic fever.