Aceruloplasminemia with Abnormal Compound Heterozygous Mutations Developed Neurological Dysfunction during Phlebotomy Therapy.
Intern Med
; 57(18): 2713-2718, 2018 Sep 15.
Article
em En
| MEDLINE
| ID: mdl-29709961
ABSTRACT
Aceruloplasminemia is an autosomal recessive inherited disorder caused by ceruloplasmin gene mutations. The loss of ferroxidase activity of ceruloplasmin due to gene mutations causes a disturbance in cellular iron transport. We herein describe a patient with aceruloplasminemia, who presented with diabetes mellitus that was treated by insulin injections, liver hemosiderosis treated by phlebotomy therapy, and neurological impairment. A genetic analysis of the ceruloplasmin gene revealed novel compound heterozygous mutations of c.1286_1290insTATAC in exon 7 and c.2185delC in exon 12. This abnormal compound heterozygote had typical clinical features similar to those observed in aceruloplasminemia patients with other gene mutations.
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Texto completo:
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ceruloplasmina
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Flebotomia
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Distúrbios do Metabolismo do Ferro
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Doenças Neurodegenerativas
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Hemossiderose
Limite:
Aged
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Female
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Humans
Idioma:
En
Revista:
Intern Med
Ano de publicação:
2018
Tipo de documento:
Article