Central Diabetes Insipidus and Hypothalamic Hypothyroidism Associated with Aceruloplasminemia
-
- Watanabe Minemori
- Department of Endocrinology, Okazaki City Hospital
-
- Asai Chikako
- Department of Endocrinology, Okazaki City Hospital
-
- Ishikawa Kota
- Department of Endocrinology, Okazaki City Hospital
-
- Kiyota Atsushi
- Department of Endocrinology, Okazaki City Hospital
-
- Terada Tatsuhiro
- The First Department of Medicine, Hamamatsu University School of Medicine
-
- Kono Satoshi
- The First Department of Medicine, Hamamatsu University School of Medicine
-
- Miyajima Hiroaki
- The First Department of Medicine, Hamamatsu University School of Medicine
-
- Okumura Ataru
- Department of Endocrinology, Okazaki City Hospital
Search this article
Abstract
Aceruloplasminemia is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and neurological abnormalities, such as cerebellar ataxia, extrapyramidal signs and dementia. Aceruloplasminemia is caused by mutations in the ceruloplasmin gene, which results in the absence of serum ceruloplasmin and iron overload in the brain, liver, pancreas and other organ tissues. However, little is known about endocrine diseases associated with aceruloplasminemia. We report herein a case of aceruloplasminemia accompanied by central diabetes insipidus and hypothalamic hypothyroidism.<br>
Journal
-
- Internal Medicine
-
Internal Medicine 49 (15), 1581-1585, 2010
The Japanese Society of Internal Medicine
- Tweet
Details 詳細情報について
-
- CRID
- 1390001204871366272
-
- NII Article ID
- 130000299583
-
- ISSN
- 13497235
- 09182918
-
- Text Lang
- en
-
- Data Source
-
- JaLC
- Crossref
- CiNii Articles
-
- Abstract License Flag
- Disallowed