一个中国男孩的胆汁,脏,神经和骨综合征
Wu Yang1, Xiao-Yu Li1, Li-Juan Ma1
1Department of Pediatrics, Peking University First Hospital Ningxia Women and Children's Hospital, Yinchuan, 750001, China.
Pediatric nephrology (Berlin, Germany)
|November 8, 2024
概括
胆汁,脏,神经和骨综合征 (BRENS综合征) 是一种罕见的遗传疾病. 这份病例报告详细介绍了一名患有BRENS综合征但缺少胆道干扰的中国患者,强调了可变的临床表现.
科学领域:
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
- 纤维病变是一种纤维病变.
背景情况:
- 胆汁,脏,神经和骨综合征 (BRENS综合征) 是一种极其罕见的纤毛病.
- 它主要是由TTC26基因 (OMIM 617453) 中的致病变体引起的.
- 现有的文献包含有限的病例报告,强调了这种情况的稀有性和需要进一步的文档.
研究的目的:
- 报告一个中国病人的BRENS综合征新病例.
- 描述临床表型,特别是缺少胆道干扰.
- 识别和表征与该综合征相关的TTC26基因中的新型遗传变异.
主要方法:
- 对表现为脏,神经和骨特征的患者进行临床评估.
- 基因分析,包括TTC26基因的测序.
- 识别和分离分析已识别的变异.
主要成果:
- 患者出现了BRENS综合征,表现出脏,神经和骨异常,但没有胆道干涉.
- 基因测试在TTC26基因中发现了三种新型化合物异合体变异:c.1069+5G>A,c.511A>G (p.Ile171Val) 和c.1099T>C (p.Ser367Pro).
- 这些变种是从父母双方遗传的,这证实了它们的复合异构性状态.
结论:
- 这个病例代表了第一个没有胆道干扰的BRENS综合征的记录实例.
- 这些发现表明,BRENS综合征可以呈现出可变的表型.
- 对TTC26变体的进一步研究是有必要的,以充分理解BRENS综合征的谱系.
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