婴儿期患 Chanarin-Dorfman 综合征合并肝硬化一例，其病因是 ABHD5 基因新剪接位点突变。
Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5.
机构信息
Department of Pediatric Gastroenterology Hepatology and Nutrition, Karadeniz Technical University, Trabzon, Turkey.
出版信息
Acta Paediatr. 2010 Oct;99(10):1592-4. doi: 10.1111/j.1651-2227.2010.01869.x.
UNLABELLED
We described a Turkish girl with Chanarin-Dorfman syndrome who developed liver cirrhosis in the early infancy. She had all the clinical features of Chanarin-Dorfman syndrome such as ichthyosis, Jordan's anomaly, fatty liver disease and mild ectropion. The diagnosis was confirmed with a novel ABHD5 mutation. Liver steatosis or steatohepatitis with or without hepatomegaly is the predominant finding of Chanarin-Dorfman syndrome. Cirrhosis has been reported in patients with long-duration disease.
CONCLUSION
Local factors or dysfunction of local proteins such as mutations or polymorphisms in hepatic microsomal lipase and arylacetamide deacetylase may contribute the severity of liver involvement, and steatosis may progress to cirrhosis in the early infancy in Chanarin-Dorfman syndrome.
目的
我们描述了一名土耳其女孩患有 Chanarin-Dorfman 综合征，她在婴儿早期就发展为肝硬化。她具有 Chanarin-Dorfman 综合征的所有临床特征，如鱼鳞癣、约旦异常、脂肪肝疾病和轻微的眼睑外翻。该诊断得到了一种新的 ABHD5 突变的证实。脂肪变性或脂肪性肝炎伴或不伴肝肿大是 Chanarin-Dorfman 综合征的主要表现。患有该病的患者已报告有肝硬化。
结论
局部因素或局部蛋白的功能障碍，如肝微粒体脂肪酶和芳基乙酰胺脱乙酰酶的突变或多态性，可能导致肝脏受累的严重程度增加，在 Chanarin-Dorfman 综合征中，脂肪变性可能在婴儿早期进展为肝硬化。
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