先天性高胰岛素血症在新生儿期早期诊疗探讨

目的分析10例新生儿先天性高胰岛素血症临床资料,探讨其早期诊断和治疗方法。方法回顾性分析2000至2010年淄博市第八人民医院儿科收治的10例新生儿期起病的先天性高胰岛素血症患儿围生期情况、临床表现、实验检查以及治疗、随访等资料。结果 10例患儿中男6例,女4例。起病时间为生后1h内至生后25d。大于胎龄儿6例,其中巨大儿4例。以惊厥为主要临床表现7例,其他临床表现有反应弱、拒奶、面色苍白、四肢抖动、嗜睡、易激惹等。实验室检查均有持续性低血糖和高胰岛素血症,尿酮体阴性。3例放弃治疗,7例给予二氮嗪治疗,仅2例治疗有效,1例行胰腺次全切除术,术后血糖正常。随访3例（二氮嗪治疗2例、胰腺次全切除1例）,智力正常,2例放弃治疗死亡,其余5例均有中重度智力低下,低血糖发作无缓解。结论新生儿先天性高胰岛素血症以大于胎龄儿多见。发病可以早至生后1h,起病隐匿且无特异性体征。低血糖严重,脑损伤多见。可通过血糖监测、血胰岛素和尿酮体检查作出早期诊断。多数患儿二氮嗪治疗无效,确定二氮嗪治疗无效者应尽早手术治疗。

Discuss the detectior and treatment of congenital hyperinsulinism in the neonatal period to early

Objective To study the diangnosis and treatment of neonatal Congenital Hyperinsulinism Hypoglycemia（CHI）.Methods The clinical data of 10 newborn babies with CHI,who were Zibo 8 people＇s hospital pediatric retrospectively between 2000 and 2010,were retrospectively reviewed.Results Sex ratio of boys to girls was 6：4.Time variation in disease onset：form less than 1 hour after labor to 25 days.6 of 10 patients were large for gestational age.4 peoples of them were macrosonias.Conclusion Cyanosis,lethargy,refusing milk sucking,irritability and sweating were common symptoms.The laboratory findings displayed persistent hypolglycemia and hyperinsulinism in all of the 10 newborn babies.There were no urine and blood ketones elevating in all of the 10 newborn babies.Seven infants were treated with oral diazoxide,but only 2 peoples of them showed effectiveness to the therapy.One patient was given subtotal pancreatectomy and the blood glucose level was restored to normal after operation.one newborn babies died within 2 weeks.Of the other 9 newborn babies,only 3 patients who were effectively treated had normal intelligence.Seven of them presented mental retardation in a 5-year follow-up.Conclusion The meaurement of blood glucose,blood insulin and urinary ketones is helpful in the whenever drug treateent is comfirmed unresponsive,operation should be considered.