成人赫施普朗格病呈现为慢性便秘:一个病例报告
Theresia Monica Rahardjo1, Yeppy Arief Nurzaman2, Janice Natalia3
1Faculty of Medicine, Maranatha Christian University, Suria Sumantri 65, Bandung, West Java, 40164, Indonesia. theresiarahardjo@gmail.com.
Journal of medical case reports
|July 4, 2023
概括
成年人希尔施普朗格病,在成年人中是一种罕见的诊断,呈现出慢性便秘. 这一案例凸显了在患有终身肠道问题的成年人中考虑这种先天性疾病的重要性,而最终的治疗方法是手术切除角质段.
科学领域:
- 胃肠病学 胃肠病学
- 儿科手术 儿科手术
- 遗传性疾病 遗传性疾病
背景情况:
- 赫施普朗氏病是一种先天性疾病,其特征在于肠壁中缺乏质细胞.
- 它大约影响5000个活产中的1个,其中95%的病例诊断在1岁以下的婴儿中.
- 成年人的诊断是罕见的,经常呈现慢性,耐火性便秘.
研究的目的:
- 为了呈现一种罕见的成年人希尔施普朗格病的病例.
- 增强对患有慢性便秘的成年患者赫施普朗格病的理解和诊断.
主要方法:
- 一个18岁的印度尼西亚妇女终身便秘的案例报告.
- 诊断评估包括一个对比阴囊,揭示了收窄的直肠和扩张的直肠 (直肠指数<1).
- 患者被转诊为手术治疗疑似超短段赫施普朗格病.
主要成果:
- 对比水溶液的发现与超短段赫施普朗格病相一致.
- 患者呈现出暗示着在婴儿期未被诊断出的先天性疾病的症状.
结论:
- 在有童年便秘病史的成年患者中,应考虑希尔施普朗格病.
- 成人病例通常涉及短或超短的角质细分由于较轻的慢性症状.
- 手术切除角质细分是对希尔施普朗格病的最终治疗方法.
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