Aceruloplasminemia in a Turkish adolescent with a novel mutation of ceruloplasmin gene: the first diagnosed case from Turkey.
J Pediatr Hematol Oncol
; 36(7): e423-5, 2014 Oct.
Article
em En
| MEDLINE
| ID: mdl-25247888
ABSTRACT
Aceruloplasminemia is a rare autosomal recessive disease that affects the iron metabolism of the body. When there is a lack of ceruloplasmin ferroxidase activity, iron accumulates, especially in the brain, pancreas, liver, and retina. The first symptom is generally a persistent hypochromic microcytic anemia with a mild high-serum ferritin level. The affected patients are usually recognized at later ages, when the neurological symptoms appear. The neurological outcome has an adverse effect on the prognosis, which may result in fatality. Therefore, early diagnosis and intervention may prevent a devastating neurological damage. Here, we report a case of aceruloplasminemia in a teenage girl with hypochromic microcytic anemia.
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Base de dados:
MEDLINE
Assunto principal:
Ceruloplasmina
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Distúrbios do Metabolismo do Ferro
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Doenças Neurodegenerativas
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Anemia Hipocrômica
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article