X连锁铁粒幼细胞性贫血继发血色病1例并文献复习

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

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。

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.