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Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Miyoshi, Yoko Sakai, Norio Hamada, Yusuke Tachibana, Makiko Hasegawa, Yasuhiro Kiyohara, Yuki Yamada, Hiroyuki Murakami, Mari Kondou, Hiroki Kimura-Ohba, Shihoko Mine, Junji Sato, Tatsuharu Kamio, Noriko Ueda, Hitoshi Suzuki, Yasuhiro Shiomi, Masashi Ohta, Hideaki Shimozawa, Nobuyuki Ozono, Keiichi |
| Copyright Year | 2010 |
| Abstract | X-linked adrenoleukodystrophy (X-ALD) is a genetic disease associated with demyelination of the central nervous system, adrenocortical insufficiency and accumulation of very long chain fatty acids. It is a clinically heterogeneous disorder ranging from a severe childhood cerebral form to an asymptomatic form. The incidence in Japan is estimated to be between 1:30,000 and 1:50,000 boys as determined by a nationwide retrospective survey between 1990 and 1999, which found no cases with Addison's form. We reviewed the medical records of eleven Japanese boys with X-ALD from 1990 to 2010 in our institute. Eight patients were detected by neuropsychological abnormalities, whereas a higher prevalence of unrecognized adrenocortical insufficiency (5/11: 45%) was observed than previously recognized. While no neurological abnormalities were demonstrated in two brothers, the elder brother had moderate Addison's disease at diagnosis and the presymptomatic younger brother progressed to Addison's disease six months after the diagnosis of X-ALD. Early detection of impaired adrenal function as well as early identification of neurologically presymptomatic patients by genetic analysis is essential for better prognosis. Addison's form might be overlooked in Japan; therefore, X-ALD should be suspected in patients with adrenocortical insufficiency. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://www.jstage.jst.go.jp/article/endocrj/57/11/57_K10E-204/_pdf/-char/en |
| PubMed reference number | 20859061v1 |
| Volume Number | 57 |
| Issue Number | 11 |
| Journal | Endocrine journal |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Addison Disease Adrenal Glands Adrenal cortical hypofunction Adrenoleukodystrophy Asymptomatic Diseases CNS disorder Congenital Abnormality Demyelination Epinephrine Eye Abnormalities Fatty Liver Genetic Heterogeneity Hereditary Diseases Mood Disorders Parkinson Disease Patients Renal Insufficiency X-Linked Combined Immunodeficiency Diseases X-Linked Lymphoproliferative Disorder nervous system disorder |
| Content Type | Text |
| Resource Type | Article |
