Criteria for early identification of aceruloplasminemia.

Content Provider	Semantic Scholar
Author	Ogimoto, Masaro Anzai, Keizo Takenoshita, Hiromasa Kogawa, Kazuhiko Akehi, Yuko Yoshida, Ryoko Nakano, Makiko Yoshida, Kunihiro Ono, Junko
Copyright Year	2011
Abstract	A 52-year-old Japanese woman being treated for type 1 diabetes showed forgetfulness and microcytic anemia with a high serum ferritin concentration. Serum and brain radiological examinations revealed aceruloplasminemia, which was confirmed by genetic testing. Aceruloplasminemia is characterized by the triad of retinal degeneration, diabetes mellitus, and adult-onset disorder of the extrapyramidal system. Though physicians should treat such patients earlier, it is difficult to diagnose the disease before the presentation of neurological symptoms. Despite the presence of microcytic anemia, aceruloplasminemia patients usually have a high serum ferritin concentration due to the complete absence of ceruloplasmin ferroxidase activity. Thus, physicians should consider aceruloplasminemia when diabetic patients present with microcytic anemia and a high serum ferritin concentration.
Starting Page	1
Ending Page	7
Page Count	7
File Format	PDF HTM / HTML
Alternate Webpage(s)	https://www.jstage.jst.go.jp/article/internalmedicine/50/13/50_13_1415/_pdf/-char/en
PubMed reference number	21720062v1
Volume Number	50
Issue Number	13
Journal	Internal medicine
Language	English
Access Restriction	Open
Subject Keyword	Ceruloplasmin deficiency Ceruloplasmin measurement Diabetes Mellitus Diabetes Mellitus, Insulin-Dependent Ferritin measurement Forgetful Genetic screening method Iron-Refractory Iron Deficiency Anemia Neurologic Symptoms Patients Retina Retinal Degeneration
Content Type	Text
Resource Type	Article