遗传性血色素沉着症：糖尿病和神经退行性疾病。
Aceruloplasminaemia: a disorder of diabetes and neurodegeneration.
机构信息
Department of Endocrinology and Diabetes, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.
Department of Gastroenterology, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.
出版信息
Intern Med J. 2017 Jan;47(1):115-118. doi: 10.1111/imj.13309.
PMID:28076908
Abstract
Aceruloplasminaemia is an autosomal recessive disorder of iron metabolism which is characterised by diabetes, neurodegeneration and anaemia. It should be considered in the differential diagnosis of adult onset, antibody-negative diabetes associated with persistent mild anaemia and hyperferritinaemia and/or progressive neuropsychiatric impairments.
摘要
亚铁血黄素症是一种常染色体隐性遗传性铁代谢紊乱疾病，其特征是糖尿病、神经退行性变和贫血。在诊断成年起病、伴持续性轻度贫血和高血铁蛋白血症和/或进行性神经精神障碍的自身免疫阴性糖尿病时，应考虑该病。
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