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目的分析15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年首都医科大学附属北京儿童医院内分泌科收治的15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、实验室检查以及治疗、随访等资料。结果 15例患儿中男10例,女5例。起病时间为生后1h内至生后25d。大于胎龄儿10例,其中巨大儿8例。以惊厥为主要临床表现9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。6例放弃治疗,9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例放弃治疗后死亡,余10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。
Objective To analyze the clinical data of 15 neonates with congenital hyperinsulinemia and discuss the methods of early diagnosis and treatment. Methods The perinatal period, clinical manifestations, laboratory tests and treatment of 15 neonates with congenital hyperinsulinemia who were admitted to Department of Endocrinology, Beijing Children’s Hospital Affiliated to Capital Medical University from 2000 to 2010 were retrospectively analyzed. Other information. Results 15 cases of children in 10 males and 5 females. The onset time within 1h after birth to 25d after birth. More than 10 gestational age children, including 8 cases of giant children. The main clinical manifestations of convulsions in 9 cases, other clinical manifestations of weak reaction, refused to milk, pale, limbs shaking, lethargy, irritability and so on. Laboratory tests have persistent hypoglycemia and hyperinsulinemia, urine ketone body negative. 6 patients gave up treatment, 9 patients were given diazoxide treatment, only 2 cases were effective, 1 case of subtotal pancreatectomy, postoperative blood glucose was normal. Three cases were followed up (diazoxide treatment in 2 cases and pancreas subtotalization in 1 case) with normal intelligence, 2 cases died after giving up treatment, and the remaining 10 cases had moderate to severe mental retardation and no hypoglycemic attack. Conclusions Congenital hyperinsulinemia in neonates is more common than gestational age. The incidence can be as early as 1h after birth, occult onset and no specific signs. Severe hypoglycemia, brain damage more common. Early diagnosis can be made by blood glucose monitoring, blood insulin and urine ketone test. Most children with diazoxide treatment is invalid, to determine the ineffective diazepam should be as soon as possible surgical treatment.