Novel compound heterozygous mutations in the hemojuvelin gene in a juvenile hemochromatosis patient:A case report  

作　　者：Ling-Ding Xie Xiao-Mu Kong Jing-Xia Shen Tai-Ling Wang Jing Ma Yun-Fen Zhang Xiao-Ping Chen 

机构地区：[1]Department of Endocrinology,China-Japan Friendship Hospital,Beijing 100029,China [2]Department of Tumor Radiotherapy and Chemotherapy,Qian’an People’s Hospital,Qian’an 064400,Hebei Province,China [3]Department of Pathology,China-Japan Friendship Hospital,Beijing 100029,China [4]Department of Endocrinology,Aksu First People's Hospital,Aksu Region 843000,Xinjiang Uygur Autonomous Region,China [5]Department of Metabolic Diseases,Qian’an Traditional Chinese Medical Hospital,Qian’an 064400,Hebei Province,China

出　　处：《World Journal of Clinical Cases》2024年第19期3961-3970,共10页世界临床病例杂志

基　　金：National High Level Hospital Clinical Research Funding,No.2022-NHLHCRF-LX-02-0101.

摘　　要：BACKGROUND Juvenile hemochromatosis(JH)is an early-onset,rare autosomal recessive disorder of iron overload observed worldwide that leads to damage in multiple organs.Pathogenic mutations in the hemojuvelin(HJV)gene are the major cause of JH.CASE SUMMARY A 34-year-old male Chinese patient presented with liver fibrosis,diabetes,hypogonadotropic hypogonadism,hypophysis hypothyroidism,and skin hyperpigmentation.Biochemical test revealed a markedly elevated serum ferritin level of 4329μg/L and a transferrin saturation rate of 95.4%.Targeted exome sequencing and Sanger sequencing revealed that the proband had a novel mutation c.863G>A(p.R288Q)in the HJV gene which was transmitted from his father,and two known mutations,c.18G>C(p.Q6H)and c.962_963delGCinsAA(p.C321*)in cis,which were inherited from his mother.The p.R288W mutation was previously reported to be pathogenic for hemochromatosis,which strongly supported the pathogenicity of p.R288Q reported for the first time in this case.After 72 wk of intensive phlebotomy therapy,the patient achieved a reduction in serum ferritin to 160.5μg/L.The patient's clinical symptoms demonstrated a notable improvement.CONCLUSION This study highlights the importance of screening for hemochromatosis in patients with diabetes and hypogonadotropic hypogonadism.It also suggests that long-term active phlebotomy could efficiently improve the prognosis in severe JH.

关 键 词：Juvenile hemochromatosis Liver cirrhosis DIABETES Iron overload PHLEBOTOMY Case report 

分 类 号：R748[医药卫生—神经病学与精神病学]