患有三肝肠综合征的儿童的长期结果
Kwang Yang Lee1,2, Ronald Bremner1, Jane Hartley3
1Department of Paediatric Gastroenterology and Nutrition, Birmingham Children's Hospital, Birmingham, UK.
American journal of medical genetics. Part A
|September 27, 2023
概括
三肝肠综合征 (THES) 是一种罕见的遗传疾病. 这项研究详细介绍了英国.
科学领域:
- 遗传学 是一个遗传学.
- 儿科胃肠病学 儿科胃肠病学
- 罕见疾病 罕见疾病
背景情况:
- 三肝肠综合征 (THES) 是一种罕见的自体逆向性疾病.
- 在TTC37或SKIV2L基因的突变导致THES,经常呈现先天性腹和多系统参与.
研究的目的:
- 描述英国最大群体中THES的自然历史.
- 分析THES患者的临床记录和病理样本,这些患者在三级儿科胃肠道病房管理.
主要方法:
- 临床记录和病理样本的系统审查.
- 通过突变分析或13名英国患者 (1996-2020) 的临床表型证实了诊断.
主要成果:
- 两名患者因感染而死亡;所有患者都需要通过肠道营养 (PN),六名患者被断奶.
- 所有患者都表现出胃肠道炎症;近一半的患者在11岁时发展出单一性炎症性肠病 (IBD).
- 长期的腹随着时间的推移而改善,但单一性IBD对标准治疗不耐药. 呼吸系统问题导致显著的发病率.
结论:
- 这是一种复杂的多系统性疾病,结果是可变的.
- 虽然先天性腹有所改善,但晚期发病的单一性IBD和呼吸道并发症需要谨慎管理.
- 长期呼吸护理对于预防并发症和改善THES患者的存活率至关重要.
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