title: Urine vascular biomarkers in Sturge-Weber syndrome.
abstract: Sturge-Weber syndrome (SWS) consists of a capillary-venous vascular malformation of the brain, skin and eye. Urine vascular biomarkers have been demonstrated to be abnormal in other vascular anomalies and to correlate with clinical severity and progression. The current study investigated the use of urinary matrix metalloproteinase (MMP)-2, MMP-9, vascular endothelial growth factor (VEGF), and basic fibroblast growth factor (bFGF) levels to non-invasively monitor the progression of SWS. Fifty-four urine samples were collected from patients seen at the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute. Urine was analyzed for MMP-2, MMP-9, VEGF and bFGF levels and correlated with clinical outcome at the time of urine collection (n = 48) and 1 year following urine collection (n = 22). Analysis revealed that MMP-2 (p = 0.033) and MMP-9 (p = 0.010) were significantly more likely to be present in the urine of SWS subjects compared to controls and that bFGF was significantly more likely to be present at abnormal levels (p = 0.005). MMP-2 correlated with a more severe clinical score at the time of urine collection, while both MMP-2 and MMP-9 levels correlated with greater disease severity at time of collection. bFGF levels correlated with improved clinical score 1 year after urine collection. These results suggest that MMP-2 and MMP-9 levels may be useful in assessing SWS progression, as well as indicating which patients might benefit from more aggressive treatment, while bFGF levels may be useful in judging the efficacy of neurologic treatment in SWS.
authors.affiliation: Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
authors.forename: Aditya K
authors.initials: AK
authors.lastname: Sreenivasan
authors.forename: Catherine D
authors.initials: CD
authors.lastname: Bachur
authors.forename: Kira E
authors.initials: KE
authors.lastname: Lanier
authors.forename: Adam S
authors.initials: AS
authors.lastname: Curatolo
authors.forename: Susan M
authors.initials: SM
authors.lastname: Connors
authors.forename: Marsha A
authors.initials: MA
authors.lastname: Moses
authors.forename: Anne M
authors.initials: AM
authors.lastname: Comi
mesh_terms: D000293:Adolescent; D000328:Adult; D014408:Biomarkers, Tumor / Q000652:urine; D002648:Child; D002675:Child, Preschool; D005260:Female; D016222:Fibroblast Growth Factor 2 / Q000652:urine*; D006801:Humans; D007223:Infant; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000652:urine*; D020780:Matrix Metalloproteinase 9 / Q000652:urine*; D018570:Risk Assessment; D013341:Sturge-Weber Syndrome / Q000175:diagnosis / Q000652:urine*; D042461:Vascular Endothelial Growth Factor A / Q000652:urine*; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor; D042461:Vascular Endothelial Growth Factor A; D016222:Fibroblast Growth Factor 2; C522361:MMP2 protein, human; D020778:Matrix Metalloproteinase 2; C579270:MMP9 protein, human; D020780:Matrix Metalloproteinase 9
keywords: angiogenesis; biological markers; fibroblast growth factor; remodeling; risk assessment; vascular endothelial growth factor-A