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.
Keywords:
aceruloplasminaemia; anaemia; diabetes; iron metabolism; neurodegeneration.
© 2017 Royal Australasian College of Physicians.
MeSH terms
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Adult
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Benzoates / administration & dosage
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Brain / diagnostic imaging
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Ceruloplasmin / analysis*
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Ceruloplasmin / deficiency*
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Copper / blood
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Deferasirox
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Diabetes Mellitus, Type 2 / complications*
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Diagnosis, Differential
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Ferritins / blood
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Humans
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Insulin / administration & dosage
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Iron / blood*
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Iron Chelating Agents / administration & dosage
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Iron Metabolism Disorders / diagnosis*
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Iron Metabolism Disorders / drug therapy*
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Magnetic Resonance Imaging
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Male
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Neurodegenerative Diseases / diagnosis*
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Neurodegenerative Diseases / drug therapy*
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Triazoles / administration & dosage
Substances
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Benzoates
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Insulin
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Iron Chelating Agents
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Triazoles
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Copper
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Ferritins
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Iron
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Ceruloplasmin
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Deferasirox
Supplementary concepts
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Familial apoceruloplasmin deficiency