- 期刊
Dental Management of a Child with Alagille Syndrome: A Case Report
阿拉吉歐症候群孩童的牙科處置：病例報告
摘要
Alagille syndrome (ALGS) is a rare genetic disorder which is inherited in an autosomal dominant pattern. Its manifestation mainly focuses on liver, heart, eyes, and skeleton. The prevalence of ALGS is estimated 1 in every 70000 newborns. The pathogenesis of ALGS is caused by mutation in JAG1 or NOTCH2 genes. The JAG1 gene and NOTCH2 gene regulate Notch signaling between neighboring cells during embryonic development. Disrupted Notch signaling pathway may affect stem cells proliferation and regulation. As a result, errors may occur during embryonic development, especially affecting the development of bile duct, heart, skeleton, cornea, and causes some distinct facial features. To implement dental management on children affected with this condition, dental practitioners need to execute proper treatment planning due to impaired liver function, blood coagulation and heart condition. The objective of this case report is to present the principles and considerations on dental management in children affected with such disease.
並列摘要
阿拉吉歐症候群是一種體染色體基因異常的罕見疾病，臨床上主要表現有：膽管異常、先天性心臟疾病、角膜異常、骨骼系統異常、以及特殊的外觀長相。其盛行率於新生兒中約為1/70000。阿拉吉歐症候群的症病原因是由於位於人類第20號染色體上一個叫做JAG1的基因突變所造成（有少部分的患者是因NOTCH2基因突變）。JAG1是一個存在於細胞表面的蛋白，與受體結合進行Notch的訊息傳遞，以調控胚胎的發育。如果此訊息傳遞發生異常，會影響胚胎時期幹細胞的增值與調控，進而影響器官的形成，如肝臟、心臟、骨骼、腎臟、角膜、以及臉部外觀。由於此類患者常有受損的肝臟功能及先天性心臟疾病，在牙科處置上需特別注意凝血功能不佳以及感染性心內膜炎的風險。