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Aceruloplasminemia Clinical signs and pathophysiological mechanisms

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(396 available)
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Book Details
Language
English
Publishers
Our Knowledge Publishing (5 Jun. 2024)
Weight
0.12 KG
Publication Date
05/06/2024
ISBN-10
6207624343
Pages
72 pages
ISBN-13
9786207624348
Dimensions
15 x 0.43 x 22 cm
SKU
9786207624348
Author Name
EMNA ELLOUZ (Author)
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Aceruloplasminemia, a rare genetic disease, is characterized by a variety of clinical symptoms and tissue iron accumulation, with the underlying mechanisms largely unknown. Our meta-analysis of 110 patients, performed according to PRISMA 2020 guidelines, revealed that males with ferritin levels >700 ng/ml, start the disease with diabetes, while females or those with ferritin<700 ng/ml start with anemia.

Patients most often show initial systemic signs, and then develop neuropsychiatric symptoms and cerebral iron overload. On the other hand, rare cases develop neuropsychiatric symptoms without subsequent systemic signs or cerebral iron overload.

These differences are explained by genetic characteristics, ceruleoplasmin levels and metabolic disorders. Clinicians should be alert to this disease in diabetic men and women with anemia, in the presence of neurological symptoms such as abnormal movements, epilepsy and ataxia, in order to propose appropriate management.

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