康涅利亚·德朗格综合征伴随着胆病和腎病:一个病例报告
So Yoon Choi1, Yoo-Rha Hong1, Chi-Eun Oh1,2
1Departments of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan 49267, Republic of Korea.
Children (Basel, Switzerland)
|January 8, 2025
概括
康尼利亚·德朗格综合征 (CdLS) 是一种罕见的遗传性疾病,可以出现胆结石和结石. 这一案例凸显了在CdLS患者中考虑这些并发症的重要性.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 胃肠病学 胃肠病学
背景情况:
- 康尼利亚·德朗格综合征 (CdLS) 是一种罕见的遗传性疾病,具有多种临床表现,包括独特的面部特征,发育迟缓和骨异常.
- 诸如NIPBL,SMC1A,SMC3,HDAC8和RAD21等基因的突变与CdLS有关,NIPBL突变是最常见的原因 (约60%).
- 虽然CdLS以其全身性影响而闻名,但胆病和腎病的同时发生较少报告.
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