Infantile onset diabetes mellitus(IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus(DM) at age less than one year are likely to have transient or permanent neonatal DM or rar...Infantile onset diabetes mellitus(IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus(DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes(67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India.展开更多
目的采用高通量测序(NGS)研究MODY分子基础,了解新疆地区MODY检出情况和临床特征。方法选取2015年1月至2020年9月于我院内分泌科收治的早发DM患者321例,对其中69例进行基因检测,筛查出携带MODY突变基因的患者14例,分析先证者及家系成员...目的采用高通量测序(NGS)研究MODY分子基础,了解新疆地区MODY检出情况和临床特征。方法选取2015年1月至2020年9月于我院内分泌科收治的早发DM患者321例,对其中69例进行基因检测,筛查出携带MODY突变基因的患者14例,分析先证者及家系成员临床特征。结果 14例携带MODY突变基因患者,其中MODY1(HNF4A)1例、MODY2(GCK)2例、MODY3(HNF1A)1例、MODY4(PDX1)2例、MODY5(HNF1B)1例、MODY6(NEUROD1)1例、MODY7(KLF11)2例、MODY9(PAX4)1例、MODY10(INS)2例、MODY12(ABCC8)1例。对携带GCK c. A1398G p. X466W患者及其家系成员进行家系分析并确诊为MODY2。结论对DM检出年龄早、DM病程长但血糖控制较好且C-P水平降低缓慢的患者,不使用或使用小剂量Ins可良好控制血糖。应对DM家族史患者进行诊断性基因检测,以避免误诊及漏诊。NGS有助于正确诊断MODY亚型。展开更多
文摘Infantile onset diabetes mellitus(IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus(DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes(67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India.
文摘目的采用高通量测序(NGS)研究MODY分子基础,了解新疆地区MODY检出情况和临床特征。方法选取2015年1月至2020年9月于我院内分泌科收治的早发DM患者321例,对其中69例进行基因检测,筛查出携带MODY突变基因的患者14例,分析先证者及家系成员临床特征。结果 14例携带MODY突变基因患者,其中MODY1(HNF4A)1例、MODY2(GCK)2例、MODY3(HNF1A)1例、MODY4(PDX1)2例、MODY5(HNF1B)1例、MODY6(NEUROD1)1例、MODY7(KLF11)2例、MODY9(PAX4)1例、MODY10(INS)2例、MODY12(ABCC8)1例。对携带GCK c. A1398G p. X466W患者及其家系成员进行家系分析并确诊为MODY2。结论对DM检出年龄早、DM病程长但血糖控制较好且C-P水平降低缓慢的患者,不使用或使用小剂量Ins可良好控制血糖。应对DM家族史患者进行诊断性基因检测,以避免误诊及漏诊。NGS有助于正确诊断MODY亚型。
