[X-Linked Adrenoleukodystrophy or the Management of Rare Diseases in the General Practice]. / Die X-chromosomale Adrenoleukodystrophie oder vom Umgang mit seltenen Erkrankungen in der hausärztlichen Praxis.
Praxis (Bern 1994)
; 110(9): 529-535, 2021 Jul.
Article
em De
| MEDLINE
| ID: mdl-34231380
ABSTRACT
X-Linked Adrenoleukodystrophy or the Management of Rare Diseases in the General Practice Abstract. We report on a 48-year-old patient with X-linked adrenoleukodystrophy with slowly progressive leg-accentuated spastic paraparesis, vegetative dysfunction with bladder and sexual dysfunction, and primary adrenal insufficiency. The diagnosis of adrenomyeloneuropathy, the adult form of adrenoleukodystrophy, and Addison's disease was made at the age of 20 by evidence of an increased concentration of long-chain fatty acids in the plasma. The therapy is symptom-oriented.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Addison
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Adrenoleucodistrofia
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Medicina Geral
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
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Middle aged
Idioma:
De
Revista:
Praxis (Bern 1994)
Assunto da revista:
MEDICINA
Ano de publicação:
2021
Tipo de documento:
Article