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.
作者
程雅欣
李佳
李红梅
杨柳
张鹏鑫
叶创文
陈健宁
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)
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2022年第11期991-995,共5页
Chinese Journal of Endocrinology and Metabolism
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
Hereditary haemochromatosis
Secondary diabetes
Iron overload
Endocrine dysfunction
