KCNJ11基因新发突变导致的TNDM 1例并文献复习

A Novel Mutation in KCNJ11 Gen Causes Temporary Neonatal Diabetes Mellitus:A Case Report and Literature Review

目的报告1例KCNJ11基因突变所致的暂时性新生儿糖尿病(TNDM),为TNDM患儿的早期诊治提供依据。方法对本院2017年11月诊断的一例TNDM患儿的临床特征、相关辅助检查进行分析;对先证者及其父母进行糖尿病相关基因测序。总结既往报道的KCNJ11基因突变致NDM病例的临床资料,分析其临床特点。结果先证者为宫内发育迟缓,在生后发现血糖升高,诊断新生儿糖尿病。口服格列本脲治疗1周后血糖正常,于1岁停药。行糖尿病相关基因检测到KCNJ11基因(NM_000525.3)第1号外显子c.697C>T(p.Glu227Lys)杂合突变,该突变导致胰岛素分泌减少而致病。通过文献复习,NDM患儿除有高血糖,有些还有神经系统表现;早期予磺脲类药物治疗,不仅安全有效,还可预防远期神经系统并发症。结论对出生体重低的新生儿连续监测血糖升高,可疑NDM患儿应早期进行基因检测,早期予磺脲类药物治疗,并需长期随访,警惕复发。

Objective To report a case of temporary neonatal diabetes mellitus(TNDM)caused by KCNJ11 gene mutation,and to provide evidence for early diagnosis and treatment of children with TNDM.Methods The clinical characteristics and laboratory data of a patient with TNDM diagnosed in our hospital in November 2017 were analyzed;the proband and her parents were sequenced for diabetes-related genes.The clinical data of previously reported cases of NDM caused by KCNJ11 gene mutation were summarized,and their clinical characteristics were analyzed.Results The proband was diagnosed with intrauterine growth retardation(IUGR)and was diagnosed with neonatal diabetes mellitus.After 1 week of oral glyburide treatment,blood sugar was normal,and the drug was discontinued at 1 year old.Diabetes-related genes detected a heterozygous mutation in exon 1 of KCNJ11(NM_000525.3)c.697C>T(p.Glu227Lys),which resulted in decreased insulin secretion.Through literature review,in addition to hyperglycemia,some children with NDM also have neurological manifestations;early treatment with sulfonylureas is not only safe and effective,but also prevents long-term neurological complications.Conclusion Continuous monitoring of blood glucose levels in neonates with low birth weight.Suspected NDM children should undergo early genetic testing,early treatment with sulfonylureas,and long-term follow-up to be vigilant for recurrence.