文章摘要

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

作者: 1范宪双, 1赵少俐, 1莫朝晖
1 中南大学湘雅三医院内分泌科,长沙 410000
通讯: 莫朝晖 Email: easd04mzh@126.com
DOI: 10.3978/j.issn.2095-6959.2022.07.038
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2 d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。
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

A case of diabetic ketoacidosis caused by β-thalassemia secondary hematochromatosis

Authors: 1FAN Xianshuang, 1ZHAO Shaoli, 1MO Zhaohui
1 Department of Endocrinology, Third Xiangya Hospital, Central South University, Changsha 410000, China

CorrespondingAuthor: MO Zhaohui Email: easd04mzh@126.com

DOI: 10.3978/j.issn.2095-6959.2022.07.038

Foundation: This work was supported by the Natural Science Foundation of Hunan Province, China (2018JJ3804).

Abstract

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 intermediate β-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.

Keywords: secondary hematochromatosis; β-thalassemia; diabetic ketoacidosis; screening

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