Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type IA, Ib, and Ic
Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type IA, Ib, and Ic
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DOI：
10.1097/00005176-200403000-00010
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发表时间：
2004-03-01
影响因子：
2.9
通讯作者：
Sinaasappel, M
中科院分区：
文献类型：
--
作者：
Damen, G;de Klerk, H;Sinaasappel, M
目的：先天性糖基化异常(CDG)的典型体征和症状包括畸形、发育不良和神经系统异常。然而，越来越多的儿童在很小的时候就被诊断为不变形，也没有神经受累。作者研究了CDG Ia、Ib和I型的胃肠道和其他临床表现。方法：截至2003年1月，作者所在机构确诊17例CDG儿童。结果：CDG Ia患儿5例，CDG Ib患儿3例，CDG Ic患儿9例。确诊时年龄从2个月到15岁不等。80%的CDGIa患者、66%的CDGIb患者和11%的CDGIc患者出现发育不良。5名儿童患有蛋白缺失性肠病(2名CDG Ia，2名CDG Ib，1名CDG Ic)。CDG Ia、CDG Ib和CDG Ic患者中肝肿大的发生率分别为40%、66%和11%。CDG IC表现为一过性肝肿大。在CDG Ia中，肝脏的组织学分析显示肝细胞肿胀、脂肪变性和纤维化。CDG Ib可见错构瘤状的胆管集合。在1例CDG Ib患者中，临床表现仅限于先天性肝纤维化超过10年。结论：本研究证实了CDG Ia、Ib和IC型儿童的临床表现的异质性。患有蛋白缺失性肠病的儿童应进行CDG检测。蛋白缺失性肠病不仅可以由CDG Ia和Ib引起，也可以由Ic型引起。患有先天性肝纤维化的儿童应该接受CDG检测，即使在没有其他症状的情况下也是如此。在CDG Ib中，肝脏的组织学分析显示错构瘤状的胆管集合(Meyenburg Complex)。(C)2004年Lippincott Williams Wilkins，Inc.
Objectives: The typical signs and symptoms of congenital disorders of glycosylation (CDG) include dysmorphy, failure to thrive, and neurologic abnormalities. However, more and more children diagnosed at a young age are not dysmorphic and do not have neurologic involvement. The authors studied the gastrointestinal and other clinical manifestations of CDG type Ia, Ib, and Ic.Methods: As of January 2003, 17 children were identified with CDG at the authors' institution. The medical records of the patients were reviewed.Results: Five children had CDG Ia, three children CDG Ib, and nine children CDG Ic. Age at diagnosis ranged from 2 months to 15 years. Failure to thrive was present in 80% of patients with CDG Ia, in 66% of those with CDG Ib, and in 11% of those with CDG Ic. Five children had protein-losing enteropathy (two CDG Ia, two CDG Ib, and one CDG Ic). Hepatomegaly was present in 40% of patients with CDG Ia, in 66% of those with CDG Ib, and in 11% of those with CDG Ic. In CDG Ic, hepatomegaly was transient. In CDG Ia, histologic analysis of the liver showed swollen hepatocytes, steatosis, and fibrosis. In CDG Ib, hamartomatous collections of bile ducts were seen. In one patient with CDG Ib, the clinical picture was restricted to congenital hepatic fibrosis for more than a decade.Conclusions: The study confirms the heterogeneity of the clinical picture in children with CDG type Ia, Ib, and Ic. Children with protein-losing enteropathy should be tested for CDG. Protein-losing enteropathy can be caused, not only by CDG Ia and Ib, but also by type Ic. Children with congenital hepatic fibrosis should be tested for CDG, even in the absence of other symptoms. In CDG Ib, histologic analysis of the liver showed hamartomatous collections of bile ducts (Meyenburg complex). (C) 2004 Lippincott Williams Wilkins, Inc.