Unusual Iron and Copper Studies in a Patient with Liver Injury and Normocytic Anemia

Wilson disease is associated with a genetic mutation in the ATP7B copper transport protein, which is responsible for the transport of copper into hepatocyte endoplasmic reticulum and excretion of copper in the bile. Diabetes mellitus is a known complication of aceruloplasminemia, and this patient co...

Full description

Saved in:
Bibliographic Details
Published in:Clinical chemistry (Baltimore, Md.) Md.), 2020-02, Vol.66 (2), p.277-281
Main Authors: Ruddell, Richard G, Lee, Andrew, Powell, Elizabeth E, Wilgen, Urs, Ungerer, Jacobus P J
Format: Article
Language:English
Subjects:
Anemia
Bile
Central nervous system
Ceruloplasmin
Copper
Degeneration
Diabetes
Diabetes mellitus
Endoplasmic reticulum
Ferritin
Ferroxidase
Gastroesophageal reflux
Glucose tolerance
Glycosylated hemoglobin
Hemoglobin
Homeostasis
Iron
Liver
Liver diseases
Medical research
Medicine, Experimental
Metabolism
Mutation
Nervous system
Neurodegeneration
Pancreas
Patients
Protein transport
Proteins
Retina
Retinal degeneration
Transferrin
Transferrins
Transport
Wilson's disease
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Wilson disease is associated with a genetic mutation in the ATP7B copper transport protein, which is responsible for the transport of copper into hepatocyte endoplasmic reticulum and excretion of copper in the bile. Diabetes mellitus is a known complication of aceruloplasminemia, and this patient could be considered prediabetic with an HbA1c of 6.3% (Table 1); in this case an oral glucose tolerance test would clarify the diagnosis. Author Contributions: All authors confirmed they have contributed to the intellectual content of this paper and have met the following 4 requirements: (a) significant contributions to the conception and design, acquisition ofdata, or analysis and interpretation ofdata; (b) drafting or revising the article for intellectual content; (c) final approval of the published article; and (d) agreement to be accountable for all aspects of the article thus ensuring that questions related to the accuracy or integrity of any part of the article are appropriately investigated and resolved. POINTS TO REMEMBER * Ceruloplasmin plays a key role in whole body iron mobilization and tissue distribution through its intrinsic ferroxidase activity, permitting the binding of Fe3+ to transferrin. * Aceruloplasminemia disrupts iron homeostasis leading to: * Iron accumulation in the central nervous system, retina, liver, and pancreas that lead to neurodegeneration, retinal degeneration, and diabetes mellitus. * Reduced hemoglobin synthesis and
ISSN:0009-9147
1530-8561
DOI:10.1093/clinchem/hvz001