皮茨-杰格斯综合征的病例与希尔施普朗格病复杂
Saori Murakawa1, Masato Ogawa1, Aoi Taku2
1Department of Pediatrics, University of Occupational and Environmental Health, Fukuoka, JPN.
Cureus
|November 24, 2025
概括
本案例研究详细介绍了皮茨-杰格斯综合征 (PJS) 与希尔施普隆病 (HD) 同时发生的第一个记录的案例. 延迟赫施普朗格病诊断强调了需要考虑复杂的胃肠道问题患者多种遗传性疾病的必要性.
科学领域:
- 胃肠病学 胃肠病学
- 儿科手术 儿科手术
- 医学遗传学 医学遗传学
背景情况:
- 皮茨-杰格斯综合征 (PJS) 是一种罕见的遗传性疾病,其特征是 hamartomatous 息肉和增加癌症风险.
- 赫施普隆病 (Hirschsprung disease,简称HD) 是一种先天性疾病,会影响大肠,导致严重的便秘.
- 在PJS和HD的同时发生是非常罕见的,这给诊断带来了挑战.
研究的目的:
- 报告了第一个被记录的皮茨-杰格斯综合征病例,并由希尔施普隆病复杂化.
- 强调在PJS的存在下诊断挑战和延迟识别HD.
- 突出考虑非典型胃肠道症状患者同时患有遗传性疾病的重要性.
主要方法:
- 病例报告详细介绍了临床表现,诊断工作和管理.
- 关于皮茨-杰格斯综合征和希尔施普朗格病的相关文献的综述.
- 分析诊断延迟和导致因素.
主要成果:
- 一名患有皮茨-杰格斯综合征病史的患者出现了难治的新生儿便秘.
- 由于先前存在的PJS诊断,Hirschsprung病的诊断被显著推迟.
- 患有已知的遗传病症的患者的非典型胃肠道症状掩盖了第二种同时存在的疾病.
结论:
- 这一案例强调了对其他遗传性胃肠道疾病的高度怀疑指数的迫切需要.
- 对PJS和HD的早期和准确的诊断对于最佳的患者结果至关重要.
- 在评估复杂的儿科胃肠道表现时,临床医生必须考虑多种并存的遗传疾病的可能性.
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