Wang Jinling, Xu Jing, Jiang Ning, Liu Hui, Li Fengcheng, Wang Beibei, Wang Jin, Chu Ziyu, Tan Lin, Li Shasha
Department of Hepatology, The Second People's Hospital of Fuyang City, Fuyang, Anhui, China.
Department of Pathology, Beijing Youan Hospital, Capital Medical University, Beijing, China.
Front Med (Lausanne). 2024 Jun 28;11:1417611. doi: 10.3389/fmed.2024.1417611. eCollection 2024.
Hemochromatosis, also known as siderosis, is a disease caused by excessive iron deposition in human organs and tissues, resulting from iron metabolism disorders. It is clinically characterized by skin pigmentation (bronze color), liver cirrhosis, diabetes, weakness, and fatigue. Additional symptoms may include arthritis, hypothyroidism, heart failure, and sexual hypofunction. Clinical manifestations can vary from person to person, with a few patients showing no clinical manifestations, which makes the diagnosis difficult for clinicians. In this case report, we described hereditary hemochromatosis related to a mutation in the HAMP gene in Fuyang City, China, as a reference for clinicians. Hereditary hemochromatosis is rarely reported in China. Clinicians in China have relatively insufficient knowledge of this disease, which leads to frequent misdiagnosis. In this case report, we describe hereditary hemochromatosis related to HAMP gene mutation in Fuyang City, China, for the clinician's reference.
血色素沉着症,又称铁沉着症,是一种因铁代谢紊乱导致人体器官和组织中铁过度沉积而引发的疾病。其临床特征为皮肤色素沉着(青铜色)、肝硬化、糖尿病、虚弱和疲劳。其他症状可能包括关节炎、甲状腺功能减退、心力衰竭和性功能减退。临床表现因人而异,少数患者无临床表现,这给临床医生的诊断带来困难。在本病例报告中,我们描述了中国阜阳市与HAMP基因突变相关的遗传性血色素沉着症,以供临床医生参考。遗传性血色素沉着症在中国鲜有报道。中国临床医生对这种疾病的了解相对不足,导致误诊频发。在本病例报告中,我们描述了中国阜阳市与HAMP基因突变相关的遗传性血色素沉着症,以供临床医生参考。