Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.
Am J Kidney Dis
; 57(5): 673-81, 2011 May.
Article
em En
| MEDLINE
| ID: mdl-21186071
ABSTRACT
BACKGROUND:
Fabry disease is a treatable X-linked lysosomal storage disorder caused by alterations in the structural gene (GLA) of α-galactosidase A (AGAL), manifesting with cardiovascular and/or kidney disease and decreased life span. Although males as well as females can be affected, females cannot be identified using AGAL activity. We evaluated urinary total globotriaosylceramide (Gb3) and single N-acyl isoforms for the detection of Fabry disease in female patients with and without chronic kidney disease (CKD). STUDYDESIGN:
Diagnostic accuracy study. SETTING &PARTICIPANTS:
28 untreated women with Fabry disease and 335 female outpatients without Fabry disease with (n = 213) and without CKD (n = 122). INDEX TEST Assessment of urinary Gb3 using electrospray ionization tandem mass spectrometry, including 6 N-acyl isoforms, total Gb3 related to urinary creatinine, and ratios of Gb3-24 to Gb3-18 and Gb3-24 to urinary AGAL. REFERENCE TEST Fabry disease, diagnosed by identification of known pathogenic GLA mutations in patients or their male relatives.RESULTS:
6 parameters (ratio of Gb3-24 to urinary AGAL activity; Gb3-24; ratio of Gb3-24 to Gb3-18; Gb3-22; Gb3-16; and total Gb3) were highly informative for the diagnosis of Fabry disease independent of the presence or absence of CKD (area under the receiver operating characteristic curve, 0.876-0.927; all P < 0.001).LIMITATIONS:
Because of low signal-to-noise ratios, 15.8% of samples had to be excluded.CONCLUSION:
Total urinary Gb3 and Gb3 isoforms can be used for the diagnosis of Fabry disease in women.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Triexosilceramidas
/
Doença de Fabry
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Espectrometria de Massas por Ionização por Electrospray
Tipo de estudo:
Clinical_trials
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Diagnostic_studies
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Prognostic_studies
Limite:
Adult
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Aged
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Female
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Humans
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Middle aged
Idioma:
En
Revista:
Am J Kidney Dis
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Áustria