高胰岛素血症高氨血症综合征诊治研究进展

Research advances in diagnosis and treatment of hyperinsulinemia-hyperammonemia syndrome

高胰岛素血症-高氨血症综合征(hyperinsulinism-hyperammonemia syndrome,HI/HA syndrome)是先天性高胰岛素血症(HI)中第二大常见亚型。患有该综合征的儿童有空腹和高蛋白质饮食诱发的低血糖,并伴有持续高氨血症。编码谷氨酸脱氢酶的基因GLUD1致病变异是HI/HA综合征的病因。谷氨酸脱氢酶在肝、肾、脑和胰腺细胞中表达。即使在血糖正常的情况下,HI/HA综合征患者出现神经系统损害较常见。服用ATP敏感的钾离子通道开放剂二氮嗪可以很好地控制HI/HA综合征患者的低血糖,但高氨血症无法改善。

Hyperinsulinism-hyperammonemia syndrome(HI/HA)is the second most common subtype of congenital hyperinsulinemia(HI). Children with HI/HA syndrome have fasting and protein-sensitive hypoglycemia,accompanied with persistent hyperammonemia. GLUD1 mutations associated with glutamate dehydrogenase deficiency cause HI/HA syndrome.Glutamate dehydrogenase is expressed in liver,kidney,brain,and pancreas. Neurological damage is common in patients with HI/HA syndrome,even in the patients with normal blood glucose. Diazoxide,a KATP channel agonist,can well control hypoglycemia in HI/HA syndrome,but hyperammonemia cannot be improved.