Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy
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- Miyoshi Yoko
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
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- Sakai Norio
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
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- Hamada Yusuke
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
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- Tachibana Makiko
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
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- Hasegawa Yasuhiro
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
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- Kiyohara Yuki
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
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- Yamada Hiroyuki
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
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- Murakami Mari
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
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- Kondou Hiroki
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
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- Kimura-Ohba Shihoko
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
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- Mine Junji
- Department of Pediatrics, Hyogo College of Medicine, Hyogo, Japan
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- Sato Tatsuharu
- Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan
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- Kamio Noriko
- Department of Pediatrics, Itami Municipal Hospital, Osaka, Japan
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- Ueda Hitoshi
- Department of Pediatrics, Osaka General Medical Center, Osaka, Japan
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- Suzuki Yasuhiro
- Division of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
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- Shiomi Masashi
- Department of Pediatric Emergent Medicine and Infectious Disease Center, Osaka City General Hospital, Osaka, Japan
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- Ohta Hideaki
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
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- Shimozawa Nobuyuki
- Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan
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- Ozono Keiichi
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
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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.
Journal
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- Endocrine Journal
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Endocrine Journal 57 (11), 965-972, 2010
The Japan Endocrine Society
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Details 詳細情報について
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- CRID
- 1390001206300812032
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- NII Article ID
- 10029586842
- 130004443590
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- NII Book ID
- AA10901436
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- ISSN
- 13484540
- 09188959
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- Text Lang
- en
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- Data Source
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- JaLC
- Crossref
- CiNii Articles
- KAKEN
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- Abstract License Flag
- Disallowed
