克朗希特-加拿大综合征:胃肠多重症的罕见原因,对新兴疗法的反应
Kevork Khadarian1, Rish Pai2, Niloy Jewel Samadder1
1Division of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Phoenix, AZ.
ACG case reports journal
|April 8, 2024
概括
克朗希特-加拿大综合征是一种罕见的胃肠道疾病,在一名70岁的老人身上诊断出体重减轻和腹. 在普得尼松失败后,阿达利穆马布治疗导致了临床改善.
科学领域:
- 胃肠病学 胃肠病学
- 胃肠道瘤学 胃肠道瘤学
- 医学遗传学 医学遗传学
背景情况:
- 克朗希特-加拿大综合征 (CCS) 是一种罕见的非遗传性疾病,其特征是胃肠多重症和特定的临床表现.
- 患者通常出现腹,腹痛,体重减轻和蛋白质丧失肠病.
- 诊断涉及扩散的hamartomatous息肉的内镜发现和排除其他遗传性多症综合征.
研究的目的:
- 报告一名70岁的男性患有克朗希特-加拿大综合征的病例.
- 为了突出诊断挑战和治疗结果这种罕见的条件.
- 讨论生物治疗在管理CCS中的潜在作用.
主要方法:
- 一位70岁的男性患者的临床表现和诊断工作,患有慢性腹和减肥.
- 内镜检查包括食管胃管腺镜检查和结肠镜检查与活检.
- 基因检测以排除遗传性多重症综合征.
- 在没有对普得尼松反应后,启动Adalimumab治疗.
主要成果:
- 内镜检查显示了胃和十二指肠的交汇结节性,以及整个结肠的多重结节性粘膜.
- 活检证实了hamartomatous的息肉,并证明了正常出现的粘膜中的密室结构扭曲的胀.
- 基因检测排除了其他遗传多重症综合征,证实了克朗希特-加拿大综合征的诊断.
- 患者在开始Adalimumab治疗后出现了临床改善,此前没有对普得尼松反应.
结论:
- 在患有无法解释的胃肠道症状和扩散多重症的患者中,应考虑Cronkhite-Canada综合征.
- 准确的诊断需要结合内镜检查结果,组织病理学和遗传性疾病的排除.
- 对于耐火性克朗希特-加拿大综合征患者来说,阿达利木马布可能是一个可行的治疗选择.
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