Successful Treatment of Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar Status in an Infant with KCNJ11-Related Neonatal Diabetes Mellitus via Continuous Renal Replacement Therapy.
Successful Treatment of Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar Status in an Infant with KCNJ11-Related Neonatal Diabetes Mellitus via Continuous Renal Replacement Therapy.
复制标题
通过连续肾脏替代疗法成功治疗患有 KCNJ11 相关新生儿糖尿病的婴儿糖尿病酮症酸中毒和高血糖高渗状态。
DOI：
10.1007/s13300-018-0484-3
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发表时间：
2018-10
期刊：
影响因子：
--
通讯作者：
Chen L
中科院分区：
文献类型：
--
作者：
Chen T;Zhang D;Bai Z;Wu S;Wu H;Xie R;Li Y;Wang F;Chen X;Sun H;Wang X;Chen L
新生儿糖尿病（NDM）是一种罕见的单基因疾病，在出生后6个月内表现为不受控制的高血糖。高血糖高渗状态（HHS）在NDM患者中非常罕见，并且报告的这种情况的经验有限。连续性肾脏替代治疗（CRRT）常用作急性肾衰竭危重患者的透析治疗模式，但很少用于糖尿病酮症酸中毒（DKA）和HHS患者。我们报告的情况下，一个2个月大的婴儿承认我们的医院提出呼吸困难和嗜睡。血气分析显示重度高渗性DKA。输液和胰岛素治疗21小时后，婴儿出现嗜睡增加和呼吸不规则，提示脑水肿。此外，DKA和HHS加重。CRRT治疗18小时后，患者逐渐从DKA和HHS中恢复。基因分析显示KCNJ 11基因发生了一次新发突变（c.602G > A（p.R201H）），口服格列本脲成功替代了患者的胰岛素治疗。本文的在线版本（10.1007/s13300-018-0484-3）包含补充材料，可供授权用户使用。
Neonatal diabetes mellitus (NDM) is a rare monogenic disorder presenting as uncontrolled hyperglycemia during the first 6 months of life. Hyperglycemic hyperosmolar state (HHS) is quite rare in NDM patients, and reported experience with this condition is limited. Continuous renal replacement therapy (CRRT) is frequently used as a mode of dialytic treatment in critically ill patients with acute renal failure, but has seldom been used in patients with diabetic ketoacidosis (DKA) and HHS. We report the case of a 2-month-old infant admitted to our hospital presenting with dyspnea and lethargy. Blood gas showed severe hyperosmotic DKA. After 21 h of fluid and insulin therapy, the baby presented with increased drowsiness and irregular respiration, which suggested cerebral edema. Moreover, the DKA and HHS were exacerbated. After 18 h of CRRT, the patient gradually recovered from DKA and HHS. The gene analysis revealed a de novo mutation (c.602G > A (p.R201H)) of the KCNJ11 gene, and oral glibenclamide successfully replaced insulin treatment in the patient. The online version of this article (10.1007/s13300-018-0484-3) contains supplementary material, which is available to authorized users.
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