Description:
Background: Hereditary aceruloplasminemia is a rare adult-onset autosomal recessive disease characterized by a ceruloplasmin(CP) gene mutation and defective or absent ceruloplasmin function. The absence of ceruloplasmin leads to pathological iron overload in the liver, pancreas, retina, and central nervous system. It is clinically characterized by diabetes mellitus, anaemia, retinal degeneration and neurological abnormalities. Material and Methods: A 34-year-old Chinese woman who had had diabetes mellitus characterized by fast plasma glucose increasing for more than 3 years. She had tried all kinds of hypoglycemic medicines,the postprandial blood glucose could be well controlled, but still had a fast hyperglycemia. Here, we reported the identification, clinical characterization, and analysis of a novel mutation in the ceruloplasmin gene of this patient and her family members. Results: Laboratory findings revealed a complete undetectable serum Cp. Increased serum ferritin levels, elevated iron saturation, as well as results of iron quantification in the liver and CT scan also suggested iron overload in the liver. Imaging examination showed a pronounced hyperintensity in the bilateral putamina, caudate, thalamus and dentate nuclei suggesting the presence of iron overload. By sequencing the ceruloplasmin gene, A novel homozygous ceruloplasmin gene mutation, c.146+1G>T, was identified as the cause of aceruloplasminemia in this patient. Another healthy family members were heterozygous as well. Conclusion: So far, less than 60 families cases of aceruloplasminemia have been reported world-wide and mainly missense and nonsense mutations in the ceruloplasmin gene were detected. There was only one case about aceruloplasminemia has been reported in China before. We report herein a case of aceruloplasminemia accompanied by diabetes with a novel mucutation of CP gene, which suggests that increased awareness should be paid to this disorder as diabetes is an important typical symptoms of it. Disclosure Y. Xiao: None.