X连锁铁粒幼细胞性贫血继发血色病1例并文献复习

梁丽芳; 徐玉善; 李璇; 江艳

doi:10.12259/j.issn.2095-610X.S20240819

X连锁铁粒幼细胞性贫血继发血色病1例并文献复习

doi: 10.12259/j.issn.2095-610X.S20240819

昆明医科大学第一附属医院内分泌一科，云南昆明　650032

基金项目: 云南省科技厅-昆明医科大学应用基础研究联合专项基金资助项目（202001AY070001-195）；云南省代谢性疾病临床医学研究中心资助项目（202102AA100056）；云南省内分泌代谢性疾病临床医学中心资助项目（YWLCYXZXXYS20221005）

详细信息

作者简介:
梁丽芳（1983～），女，云南禄丰人，医学硕士，主治医师，主要从事内分泌与代谢性疾病工作

通讯作者:
江艳，E-mail：jyan_6@126.com

中图分类号: R587.1
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出版历程
- 收稿日期: 2024-04-01
- 网络出版日期: 2024-06-26
- 刊出日期: 2024-08-25

A Case of X-Linked Sideroblastic Anemia Secondary to Hemochromatosis and Literature Review

Dept. of Endocrinology，The 1st Affiliated Hospital of Kunming Medical University，Kunming Yunnan 650032，China

摘要

摘要: 目的分析和总结X连锁铁粒幼细胞性贫血继发血色病患者的病例资料。方法回顾性分析昆明医科大学第一附属医院内分泌一科收治的1例X连锁铁粒幼细胞性贫血继发血色病的临床资料，并复习相关文献。结果该患者因乏力反复就诊多家医院均未明确病因，后因高血糖、皮肤色素沉着收住昆明医科大学第一附属医院内分泌一科。经完善骨髓穿刺、基因检测、肝脏CT及MRI后明确诊断，给予去铁治疗后患者临床症状改善。后因患者未规律去铁治疗，最终死于心衰。结论血色病引起的糖尿病是1种特殊类型的糖尿病，其诊断除依靠血清学、影像学检查外，基因学检查也非常重要。临床上当发现皮肤色素沉着合并糖尿病、肝功能异常时，应考虑血色病可能，基因检测不仅可协助诊断血色病，还可以协助鉴别原发性和继发性血色病。
- 糖尿病 /
- 铁过载 /
- X连锁铁粒幼细胞性贫血 /
- 血色病
Abstract: Objective To analyze and summarize case data of patients with X-linked sideroblastic anemia secondary to hematological diseases. Methods The clinical data of a case of X-linked sideroblastic anemia with secondary hemochromatosis admitted to the Department of Endocrinology of the First Affiliated Hospital of Kunming Medical University were retrospectively analyzed, and the related literatures were reviewed. Results The patient presented with persistent fatigue and sought medical attention at multiple hospitals, yet the underlying cause remained elusive. Subsequently, the patient was admitted to the Department of Endocrinology of the First Affiliated Hospital of Kunming Medical University due to hyperglycemia and cutaneous pigmentation. Following comprehensive diagnostic procedures including bone marrow aspiration, genetic testing, liver CT scan, and MRI examination, a definitive diagnosis was established. The patient’ s clinical symptoms exhibited improvement subsequent to iron chelation therapy. Later, the patient died of heart failure due to irregular iron treatment. Conclusion Diabetes caused by hemochromatosis is a special type of diabetes. Diagnosing this disease not only relies on serological and imaging examinations, but genetic testing is also very important. In clinical practice, when skin pigmentation combined with diabetes and liver function abnormalities are found, hemochromatosis should be considered. Genetic testing can not only assist in diagnosing hemochromatosis, but also help distinguish between primary and secondary hemochromatosis
- Diabetes /
- Iron overload /
- X-linked sideroblastic anemia /
- Hemochromatosis

HTML全文

图 1 患者皮肤改变

皮肤色素沉着，呈“青铜色”。

Figure 1. Patient's skin lesions

下载: 全尺寸图片幻灯片

图 2 肝脏CT

肝脏密度均匀性增高，呈“白肝征”，肝脏CT值约109 HU。

Figure 2. Hepatic helical CT

下载: 全尺寸图片幻灯片

图 3 肝脏MRI

肝脏密度均匀性减低，呈“黑肝征”。

Figure 3. Liver MRI

下载: 全尺寸图片幻灯片

图 4 患者家系测序峰图

箭头标注位置为突变位置。

Figure 4. Patient family sequencing peak map

下载: 全尺寸图片幻灯片

表 1 与受检者临床表型高度相关的基因变异

Table 1. Genetic variations highly associated with the clinical phenotype of the subject

基因	染色体位置	转录本外显子	核苷酸氨基酸	纯合/ 杂合	正常人频率预测	致病性分析	遗传方式	疾病表型
ALAS2	chrX：55042056	NM_000032-ex0n8	c．1123c>T （p.R375C）	hemi	D	Likely Parlongenic	1. XLR 2. XL	1.铁粒幼细胞性贫血 2.X连锁原卟啉病
hemi 表示此突变位点为半合子突变；D为预测有害；XLR表示X连锁隐性遗传。

下载: 导出CSV

参考文献(19)

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