| Registro completo |
| Provedor de dados: |
74
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| País: |
Brazil
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| Título: |
X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients
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| Autores: |
Vargas,Carmen R.
Coelho,Daniella de M.
Barschak,Alethéa G.
Souza,Carolina F.M. de
Puga,Ana C.S.
Schwartz,Ida V.D.
Jardim,Laura
Giugliani,Roberto
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| Data: |
2000-06-01
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| Ano: |
2000
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| Resumo: |
Adrenoleukodystrophy (X-ALD) is an X-linked recessively inherited peroxisomal disorder, phenotypically heterogeneous, characterized by progressive white-matter demyelination of the central nervous system and adrenocortical insufficiency. We investigated 15 male X-ALD patients varying in age from 7 to 39, diagnosed among 108 suspected patients referred for investigation. Plasma levels of very long chain fatty acids (VLCFA) were measured at our laboratory using gas chromatography (GC). Eleven cases of childhood X-ALD and four cases of adrenomyeloneuropathy (AMN) were diagnosed. Adrenal leukodystrophy insufficiency and limb weakness were the most frequent symptoms, appearing in 12, 8 and 6 of the patients, respectively. Physician awareness of X-ALD seems inadequate to judge by age at diagnosis and lengthy interval between the start of symptoms and diagnosis. This is the first published series of Brazilian patients with X-ALD. We determined signs and symptoms relevant for diagnosis, as early identification seems important for treatment outcome. In addition, diagnosis identifies carriers, who could benefit from genetic counselling and prenatal diagnosis.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200002
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572000000200002
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.23 n.2 2000
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| Direitos: |
info:eu-repo/semantics/openAccess
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