Yasuda K, Koda N, Kadowaki H, Ogawa Y, Kimura S, Kadowaki T, Akanuma Y
Institute for Diabetes Care and Research, Asahi Life Foundation, Department of Metabolic Diseases, Graduate School of Medicine, Universitiy of Tokyo.
Intern Med. 2001 Jan;40(1):32-7. doi: 10.2169/internalmedicine.40.32.
We describe a Japanese case of neonatal hyperinsulinism due to a de novo mutation (Gly446Asp) in glutamate dehydrogenase gene (GLUD1). A boy suffered from hypoglycemic coma with relative hyperinsulinemia on day 1 after birth, and received subtotal pancreatectomy. Examination of the resected pancreas revealed a diffuse increase in endocrine cells, consistent with 'nesidioblastosis'. He is now 15 years old and has exhibited mild but persistent hyperammonemia, which is a very unique feature of the disorder caused by GLUD1 activating mutations. He has also been suffering from seizures and mental retardation. Thus, GLUD1 mutations can be a cause of congenital hyperinsulinism in Japanese.
我们描述了一例因谷氨酸脱氢酶基因（GLUD1）新发突变（Gly446Asp）导致的日本新生儿高胰岛素血症病例。一名男婴在出生后第1天因相对高胰岛素血症出现低血糖昏迷，并接受了次全胰腺切除术。对切除的胰腺进行检查发现内分泌细胞弥漫性增加，符合“成神经细胞瘤病”。他现在15岁，表现出轻度但持续的高氨血症，这是由GLUD1激活突变引起的疾病的一个非常独特的特征。他还一直患有癫痫和智力发育迟缓。因此，GLUD1突变可能是日本人先天性高胰岛素血症的一个病因。
