以糖尿病首诊的遗传性血色病合并肝功能异常、性腺功能减退、骨质疏松1例报道  

Hereditary haemochromatosis presenting as diabetes and complicated with abnormal liver function,hypogonadism,osteoporosis:a case report

作　　者：程雅欣 李佳 李红梅 杨柳 张鹏鑫 叶创文 陈健宁[4] Cheng Yaxin;Li Jia;Li Hongmei;Yang Liu;Zhang Pengxin;Ye Chuangwen;Chen Jianning(Guangzhou University of Chinese Medicine,Guangzhou 510405,China;Department of Endocrinology,General Hospital of Southern Theater Command,PLA,Guangzhou 510010,China;Department of Ultrasound,General Hospital of Southern Theater Command,PLA,Guangzhou 510010,China;Department of Pathology,The Third Affiliated Hospital,Sun Yat-Sen University,Guangzhou 510630,China)

机构地区：[1]广州中医药大学研究生院,510405 [2]中国人民解放军南部战区总医院内分泌科,广州510010 [3]中国人民解放军南部战区总医院超声科,广州510010 [4]中山大学附属第三医院病理科,广州510630

出　　处：《中华内分泌代谢杂志》2022年第11期991-995,共5页Chinese Journal of Endocrinology and Metabolism

摘　　要：遗传性血色病(hereditary hemochromatosis,HH)在中国人群中较为罕见,该病可累及多系统,临床表现特异性低,若对其认识不足,极易误诊漏诊。本文报道1例以糖尿病为首诊,而后诊断HH的病例,该患者除肝功能异常外,还出现性腺功能减退和骨质疏松等多种内分泌代谢性疾病;同时结合文献探讨HH的临床特征、诊治方法及其与内分泌功能障碍的联系,以提高临床医师对该病的认识。Hereditary hemochromatosis(HH)is relatively rare in the Chinese population,and the disease can involve multiple systems.It is easy to be missed and misdiagnosed due to nonspecific clinical manifestations.We report on a case with diabetes as the first diagnosis and being confirmed HH later.In addition to abnormal liver function,this patient also developed a variety of endocrine and metabolic diseases such as hypogonadism and osteoporosis.Included with this case report is a literature based discussion of clinical features,management of HH along with its relationship with endocrine dysfunction to improve disease understanding.

关 键 词：遗传性血色病 继发性糖尿病 铁超载 内分泌功能障碍 

分 类 号：R587.1[医药卫生—内分泌] R596[医药卫生—内科学] R580[医药卫生—临床医学]