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目的探讨基因分析对新生儿糖尿病的诊断意义和临床价值。方法选择本院内分泌遗传代谢科2012年2月至2013年9月收治并且进行家系基因突变分析的新生儿糖尿病患儿,分析其基因突变结果和临床特点,观察格列苯脲药物疗效与基因突变的关系。结果 4例患儿中,2例发现KCNJ11基因突变,2例未发现基因突变。2例KCNJ11基因突变患儿口服格列苯脲片血糖均得到良好控制,避免了长期胰岛素治疗;未发现突变的2例患儿口服格列苯脲片无效,血糖不稳定,改为中效胰岛素长期注射治疗。结论对新生儿糖尿病患儿应早期进行基因突变分析,对指导临床药物选择有积极意义。
Objective To investigate the diagnostic significance and clinical value of genetic analysis in neonatal diabetes mellitus. Methods Neonatal diabetic patients with endocrine and metabolic diseases from February 2012 to September 2013 in our hospital were analyzed. Mutations and clinical features were analyzed. The effects of glyburide on drug efficacy and gene mutation Relationship. Results Of 4 children, KCNJ11 gene mutation was found in 2 cases and no gene mutation was found in 2 cases. 2 cases of KCNJ11 gene mutation in children with oral glyburide blood glucose were well controlled to avoid the long-term insulin treatment; no mutation in 2 children with oral glibenclamide tablets ineffective, blood glucose instability, replaced by medium-acting insulin Long-term injection therapy. Conclusion The analysis of gene mutation should be carried out in neonates with early-onset diabetes mellitus, which has positive significance for directing the selection of clinical drugs.