以糖尿病酮症酸中毒为首发症状的儿童血色病1例并文献复习

One case report of childhood hereditary hemochromatosis presented with diabetic ketoacidosis and related literatures review

目的:提高对遗传性血色病临床特点和发病机制的认识,以利于及时诊断和治疗。方法:报道1例以糖尿病酮症酸中毒为首发症状的儿童遗传性血色病,并复习相关文献。结果:本例患者在糖尿病酮症酸纠正后胰酶持续升高,CT显示胰腺肿胀和肝脏密度升高,铁代谢指标显示机体铁负荷显著过多,血色病相关基因检查HFE第2号外显子存在His63Asp杂合突变。此外,患者抗谷氨酸脱羧酶抗体阴性,口服糖耐量试验显示内源性胰岛素和C肽相对缺乏。结论:儿童遗传性血色病以糖尿病酮症酸中毒发病少见,如果同时合并铁负荷显著过多,应考虑血色病的可能。

Objective： To enhance the understanding of the clinical features and pathogenesis of the hereditary hemo- chromatosis （HH）, therefore making the diagnosis and treatment for HH in time. Methods： We reported a case of children HH with initial presentation of diabetic ketoacidosis （DKA） , and reviewed the related literature. Results ： The pancreatic enzyme was continuously raised after treatment of DKA. CT indicated swelling of pancreas and high density of the liver. Iron metabolic parameter showed significantly overload of iron in the body. Meanwhile, there was a His63Asp heterozygote muta- tion in HH associated gene （HFE） analysis. In addition, the anti-glutamate decarboxylase antibody （GAD） was negative, and oral glucose tolerance test （OGTT） did not showed absolute endogenous insulin deficiency. Conclusions- HH of chlidren presented with DKA is not common. When the patient is accompanied with iron overload, HH should be considered, and fur- ther detection should be done for timely diagnosis and treatment.