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Screening for X-lin...
Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease
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Horn, M. A. (författare)
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Erichsen, M. M. (författare)
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Wolff, A. S. B. (författare)
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- Månsson, Jan-Eric, 1946 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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Husebye, E. S. (författare)
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Tallaksen, C. M. E. (författare)
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Skjeldal, Ola H. (författare)
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(creator_code:org_t)
- 2013-05-20
- 2013
- Engelska.
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Ingår i: Clinical Endocrinology. - : Wiley. - 0300-0664. ; 79:3, s. 316-320
- Relaterad länk:
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- ObjectivesX-linked adrenoleukodystrophy is an important cause of Addison's disease in boys, but less is known about its contribution to Addison's disease in adult men. After surveying all known cases of X-linked adrenoleukodystrophy in Norway in a separate study, we aimed to look for any missed cases among the population of adult men with nonautoimmune Addison's disease. Study designAmong 153 adult men identified in a National Registry for Addison's Disease (75% of identified male cases of Addison's disease in Norway), those with negative indices for 21-hydroxylase autoantibodies were selected. Additionally, cases with low autoantibody indices (48-200) were selected. Sera from subjects included were analysed for levels of very long-chain fatty acids, which are diagnostic for X-linked adrenoleukodystrophy in men. ResultsEighteen subjects had negative indices and 17 had low indices for 21-hydroxylase autoantibodies. None of those with low indices and only one of those with negative indices were found to have X-linked adrenoleukodystrophy; this subject had already been diagnosed because of the neurological symptoms. Cases of Addison's disease proved to be caused by X-linked adrenoleukodystrophy constitute 15% of all adult male cases in Norway; the proportion among nonautoimmune cases was 15%. ConclusionsWe found X-linked adrenoleukodystrophy to be an uncommon cause of Addison's disease in adult men. However, this aetiological diagnosis has far-reaching consequences both for the patient and for his extended family. We therefore recommend that all adult men with nonautoimmune Addison's disease be analysed for levels of very long-chain fatty acids.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Nyckelord
- primary adrenal insufficiency
- adrenomyeloneuropathy
- autoantibodies
- dysfunction
- experience
- childhood
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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