title: Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease.
abstract: Fabry disease (FD) is a lysosomal storage disorder caused by mutations in the α-galactosidase A gene. It is characterized by the deposition of the incompletely metabolized substrate globotriaosylceramide in several cell types and multisystem involvement. Major morbidity results from renal, cardiac and cerebrovascular pathology, mediated by endothelial dysfunction. We examined the potential utility of Cystatin C and natriuretic peptides as biomarkers in FD, and evaluated serum levels in 89 FD patients with varying degrees of disease severity. The results revealed that as a prognostic marker, Cystatin C is a good and cost effective indicator of early renal dysfunction and/or heart failure in FD. It is also more useful than serum creatinine in detecting mild renal damage and small decreases in glomerular filtration. In addition, the natriuretic peptide NT-proBNP, was elevated in patients with FD and cardiac involvement, and found to be an adequate detection marker, not only of cardiac involvement, but also of diastolic dysfunction.
authors.affiliation: Department of Internal Medicine, Lozano Blesa Universitary Hospital, Zaragoza, Spain. mantorralba@yahoo.es
authors.forename: Miguel-Ángel
authors.initials: MÁ
authors.lastname: Torralba-Cabeza
authors.forename: Susana
authors.initials: S
authors.lastname: Olivera
authors.forename: Derralynn A
authors.initials: DA
authors.lastname: Hughes
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Pastores
authors.forename: Ramón Nuviala
authors.initials: RN
authors.lastname: Mateo
authors.forename: Juan-Ignacio
authors.initials: JI
authors.lastname: Pérez-Calvo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood*; D055316:Cystatin C / Q000097:blood*; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000097:blood* / Q000175:diagnosis* / Q000188:drug therapy; D005260:Female; D005919:Glomerular Filtration Rate / Q000502:physiology; D006801:Humans; D007668:Kidney / Q000378:metabolism / Q000473:pathology; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D020097:Natriuretic Peptide, Brain / Q000097:blood*; D010446:Peptide Fragments / Q000097:blood*; D010641:Phenotype; D012372:ROC Curve; D018709:Statistics, Nonparametric
chemical_list: D015415:Biomarkers; D055316:Cystatin C; D010446:Peptide Fragments; C109794:pro-brain natriuretic peptide (1-76); D020097:Natriuretic Peptide, Brain