PDF(Pubmed)
Abstract：
Patients with diffuse congenital hyperinsulinism (CHI) refractory to drug therapy require subtotal or near-total pancreatectomy. Although almost all patients develop diabetes postoperatively, the clinical course and timing of insulin therapy remain unclear. A 7-yr-old girl presented with recurrent hypoglycemia shortly after birth and a relatively elevated insulin level, which confirmed the diagnosis of CHI. Genetic analysis revealed compound heterozygous ATP-binding cassette, Subfamily C, Member 8 pathogenic variants and diffuse CHI was suspected. Because her condition was refractory to diazoxide and octreotide, she underwent a subtotal pancreatectomy at the age of 4 mo. The drug therapy was discontinued. Although an oral glucose tolerance test at the age of 2 yr showed hyperglycemia after loading, continuous glucose monitoring (CGM) revealed that her daily glucose trends were almost within the 70-180 mg/dL range, and mild hypoglycemia appeared during the daytime. After the age of 6 yr, CGM showed an elevation in glucose trends from midnight to early morning, suggesting that insulin secretion was attenuated and hepatic glucose production was insufficiently suppressed. Insulin therapy was initiated at the age of 7 yr. These results indicate that CGM can be useful for making treatment decisions.
摘要：
对药物治疗无效的弥漫性先天性高胰岛素血症（CHI）患者需要进行次全或接近全胰腺切除术。尽管几乎所有患者都在术后发展为糖尿病，胰岛素治疗的临床过程和时机仍不清楚.一名7岁女孩出生后不久出现复发性低血糖，胰岛素水平相对升高，这证实了CHI的诊断。遗传分析显示复合杂合ATP结合盒，亚科C,怀疑成员8致病性变异和弥漫性CHI。因为她的病情对二氮嗪和奥曲肽难以治疗，她在4个月时接受了胰腺次全切除术。停止药物治疗。尽管2岁时的口服葡萄糖耐量试验显示负荷后出现高血糖，连续血糖监测（CGM）显示，她的每日血糖趋势几乎在70-180mg/dL范围内，白天出现轻度低血糖。6岁以后,CGM显示从午夜到清晨葡萄糖趋势升高，这表明胰岛素分泌减弱，肝脏葡萄糖产生抑制不足。胰岛素治疗始于7岁。这些结果表明CGM可用于做出治疗决定。
