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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

Produktbeschreibung
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.
Autorenporträt
A Dra. Emna Ellouz é professora associada de medicina na Faculdade de Medicina de Sfax, na Tunísia. É directora do departamento de neurologia do Hospital Universitário de Gabès (Tunísia). Tem várias publicações sobre doenças genéticas e metabólicas da substância branca.