1例以糖尿病酮症酸中毒为首发症状的β-地中海贫血继发性血色病  

A case of diabetic ketoacidosis caused byβ-thalassemia secondary hematochromatosis

作　　者：范宪双 赵少俐[1] 莫朝晖[1] FAN Xianshuang;ZHAO Shaoli;MO Zhaohui(Department of Endocrinology,Third Xiangya Hospital,Central South University,Changsha 410000,China)

机构地区：[1]中南大学湘雅三医院内分泌科,长沙410000

出　　处：《临床与病理杂志》2022年第7期1769-1774,共6页Journal of Clinical and Pathological Research

基　　金：湖南省自然科学基金(2018JJ3804)

摘　　要：血色病是由于体内铁负荷过多引起各个器官、系统的生理机能发生变化,从而导致一系列并发症出现;根据病因分为原发性和继发性。本文报告1例以糖尿病酮症酸中毒为首发症状的中间型β-地中海贫血继发性血色病病例。患者,男,31岁,表现为多尿、多饮2年,加重10余天,乏力、纳差2d并恶心呕吐,查体见皮肤色素沉着、肝大,实验室检验提示糖尿病酮症酸中毒、贫血并铁蛋白(serum ferritin,SF)增高;经地中海贫血基因检测证实为中间型β-地中海贫血。因此,新发糖尿病在进行相关病因的排查时,对于SF高的患者尤其要警惕血色病。Hematochromatosis is caused by the excessive iron load in various organs and systems,which leads to dysfunction and a series of complications.According to the etiology,hematochromatosis can be grouped into primary and secondary forms.In this paper,we reported a case of beta thalassemia secondary hematochromatosis which was first diagnosed as diabetic ketoacidosis.The patient,male,31-year-old,showed polyuria and polydipsia for 2 years,aggravation for more than 10 days,fatigue and poor appetite with nausea and vomiting for 2 days.Physical examination indicated skin pigmentation and liver enlargement.Laboratory tests suggested diabetic ketoacidosis,anemia and increased serum ferritin(SF).Finally,thalassemia gene test confirmed intermediateβ-thalassemia.Therefore,when screening for associated causes in newly diagnosed diabetes,patients with high levels of ferritin,should be particularly alert for the occurrence of hematochromatosis.

关 键 词：继发性血色病 Β-地中海贫血 糖尿病酮症酸中毒 筛查 

分 类 号：R587.2[医药卫生—内分泌] R556.61[医药卫生—内科学]