@article{WarnockOrtizMaueretal.2012,
  author    = {Warnock, David G. and Ortiz, Alberto and Mauer, Michael and Linthorst, Gabor E. and Oliveira, Jo{\~a}o P. and Serra, Andreas L. and Mar{\´o}di, L{\´a}szl{\´o} and Mignani, Renzo and Vujkovac, Bojan and Beitner-Johnson, Dana and Lemay, Roberta and Cole, J. Alexander and Svarstad, Einar and Waldek, Stephen and Germain, Dominique P. and Wanner, Christoph},
  title     = {Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation},
  series = {Nephrology Dialysis Transplantation},
  volume    = {27},
  journal   = {Nephrology Dialysis Transplantation},
  number    = {3},
  organization    = {Fabry Registry},
  doi       = {10.1093/ndt/gfr420},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-124697},
  pages     = {1042-1049},
  year      = {2012},
  abstract  = {Background. The purpose of this study was to identify determinants of renal disease progression in adults with Fabry disease during treatment with agalsidase beta. Methods. Renal function was evaluated in 151 men and 62 women from the Fabry Registry who received agalsidase beta at an average dose of 1 mg/kg/2 weeks for at least 2 years. Patients were categorized into quartiles based on slopes of estimated glomerular filtration rate (eGFR) during treatment. Multivariate logistic regression analyses were used to identify factors associated with renal disease progression. Results. Men within the first quartile had a mean eGFR slope of -0.1 mL/min/1.73m2/year, whereas men with the most rapid renal disease progression (Quartile 4) had a mean eGFR slope of -6.7 mL/min/1.73m2/year. The risk factor most strongly associated with renal disease progression was averaged urinary protein:creatinine ratio (UP/Cr) ≥1 g/g (odds ratio 112, 95\% confidence interval (95\% CI) 4-3109, P = 0.0054). Longer time from symptom onset to treatment was also associated with renal disease progression (odds ratio 19, 95\% CI 2-184, P = 0.0098). Women in Quartile 4 had the highest averaged UP/Cr (mean 1.8 g/g) and the most rapid renal disease progression: (mean slope -4.4 mL/min/1.73m2/year). Conclusions. Adults with Fabry disease are at risk for progressive loss of eGFR despite enzyme replacement therapy, particularly if proteinuria is ≥1 g/g. Men with little urinary protein excretion and those who began receiving agalsidase beta sooner after the onset of symptoms had stable renal function. These findings suggest that early intervention may lead to optimal renal outcomes.},
  language  = {en}
}
@article{GermainBrandBurlinaetal.2018,
  author    = {Germain, Dominique P. and Brand, Eva and Burlina, Alessandro and Cecchi, Franco and Garman, Scott C. and Kempf, Judy and Laney, Dawn A. and Linhart, Aleš and Mar{\´o}di, L{\´a}szl{\´o} and Nicholls, Kathy and Ortiz, Alberto and Pieruzzi, Federico and Shankar, Suma P. and Waldek, Stephen and Wanner, Christoph and Jovanovic, Ana},
  title     = {Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study},
  series = {Molecular Genetics \& Genomic Medicine},
  volume    = {6},
  journal   = {Molecular Genetics \& Genomic Medicine},
  doi       = {10.1002/mgg3.389},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-232976},
  pages     = {492-503},
  year      = {2018},
  abstract  = {Background The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease. Methods To expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males) enrolled in the Fabry Registry (NCT00196742) and compared it with data from 401 patients (237 females, 164 males) harboring mutations associated with classic Fabry disease. We evaluated interventricular septum thickness (IVST), left ventricular posterior wall thickness (LVPWT), estimated glomerular filtration rate and severe clinical events. Results In p.N215S males, mildly abnormal mean IVST and LVPWT values were observed in patients aged 25-34 years, and values gradually increased with advancing age. Mean values were similar to those of classic males. In p.N215S females, these abnormalities occurred primarily in patients aged 55-64 years. Severe clinical events in p.N215S patients were mainly cardiac (males 31\%, females 8\%) while renal and cerebrovascular events were rare. Renal impairment occurred in 17\% of p.N215S males (mostly in patients aged 65-74 years), and rarely in females (3\%). Conclusion p.N215S is a disease-causing mutation with severe clinical manifestations found primarily in the heart. Cardiac involvement may become as severe as in classic Fabry patients, especially in males.},
  language  = {en}
}