Novel ceruloplasmin gene mutation causing aceruloplasminemia with diabetes in a Chinese woman: a case report.

Abstract

Hereditary aceruloplasminemia (ACP) is a rare adult-onset autosomal recessive disease characterized by a ceruloplasmin (CP) gene mutation and defective or absent CP function. In the present study, we report a case of ACP in a 34-year-old Chinese woman with diabetes, fatigue, anxiety, and progressive membrane loss with low hemoglobin associated with microcytosis. The fasting glucose level was 5.6-7.96 mmol/L. Postprandial blood glucose ranged from 6.8 to 9.6 mmol/L. The Stumvoll first-phase and second-phase insulin secretion disposition indices were very low, and the serum iron content was low, even though transferrin levels were normal. Moreover, the transferrin saturation was low (5%), and the ferritin level was extremely high, above 2,000 µg/L in the patient. Furthermore, her serum CP level was extremely low (<0.0183 g/L). Abdominal computed tomography (CT) examination showed moderate iron overload in the liver. Brain CT also showed a mildly increased density of the bilateral thalami and basal ganglia. Finally, gene analysis showed a rare homozygous mutation (c.146+1G>A) in the CP gene and was diagnosed with ACP. To date, less than 60 family cases of ACP have been reported worldwide, and only two cases of ACP have been reported in China. Here, we report a case of ACP accompanied by diabetes with a novel mutation of the CP gene, which suggests that increased awareness should be highlighted in this disorder as diabetes is an important typical symptom.