Fang Chen, Ding Xin, Huang Yun, Huang Jian, Zhao Pengjun, Hu Ji
J Pediatr Endocrinol Metab. 2016 Mar;29(3):385-8. doi: 10.1515/jpem-2015-0276.
Hyperinsulinism-hyperammonemia (HI/HA) syndrome, often characterized by recurrent symptomatic hypoglycemia and persistent hyperammonemia, is the second most frequent cause of the congenital hyperinsulinism (CHI). Here, we reported a patient with normal birth weight, repeated seizures, untreatable hypoglycemia, and persistent, mild hyperammonemia. The genetic diagnosis revealed that the patient carried a heterozygous, de novo missense mutation (N410I, c.1401A>T) in the glutamate dehydrogenase 1 gene (GLUD1). The patient was treated with diazoxide, which significantly alleviated the hypoglycemia. CT and MRI brain scanning at different developmental stages revealed large-scale brain damage in the front lobe. Severe neurodevelopment deficits were identified in the follow-up.
高胰岛素血症-高氨血症（HI/HA）综合征通常表现为复发性症状性低血糖和持续性高氨血症，是先天性高胰岛素血症（CHI）的第二大常见病因。在此，我们报告了一名出生体重正常、反复癫痫发作、低血糖难以治疗且持续性轻度高氨血症的患者。基因诊断显示该患者谷氨酸脱氢酶1基因（GLUD1）存在杂合性、新发错义突变（N410I，c.1401A>T）。该患者接受了二氮嗪治疗，低血糖症状得到显著缓解。不同发育阶段的脑部CT和MRI扫描显示额叶存在大面积脑损伤。随访中发现严重的神经发育缺陷。
