先天性高胰岛素血症

Congenital hyperinsulinism: a difficult and complicated case study

摘要:

报道1例先天性持续性高胰岛素性低血糖症患儿的临床诊治情况。患儿,男,孕36周,因“胎儿宫内窘迫”剖宫产出生,出生体重4200g,生后即表现为反复低血糖,加用糖皮质激素治疗后患儿的血糖仍一直波动于1.2~2.8mmol/L之间,需静脉输注10%葡萄糖溶液,糖速为10~17mg/(kg·min),才能维持血糖的稳定。生后30d测定血胰岛素浓度为24.13U/L,同份标本的血糖为1.5mmol/L,血浆胰岛素(U/L)/血浆葡萄糖(mg/dL)比值为0.89,表明体内存在器质性胰岛素不适当分泌过多,诊断为先天性高胰岛素血症。

Abstract:

This paper reported a case of congenital hyperinsulinism and reviewed the relevant literatures regarding to the etiology, pathogenesis, clinical and pathological features, diagnosis and treatment of this disorder. The baby (male), with gestational age of 36 weeks and birth weight 4 200 g, was delivered by caesarean section. It presented with hypoglycemia immediately after birth (0.8 mmol/L). Through the course of the disease, the baby's blood sugar manifested with 1.2-2.8 mmol/L although glucocorticoid was administered. 10% glucose solutions were intravenously infused at a speed of 10-17 mg/(kg·min)for this patient to retain a stable blood sugar level. The plasma insulin level was 24.13 U/L and blood sugar level was 1.5 mmol/L on day 30 of his life. The ratio of plasma insulin (U/L)and plasma glucose (mg/dL) was 0.89. These results suggest an inappropriate insulin secretion resulting in persistent hypoglycemia in this baby and so it was definitely diagnosed with congenital hyperinsulinism.