Renal and cardiac outcomes of young male patients with Fabry disease initiated on agalsidase beta treatment before age 30: A Fabry registry analysis
MOLECULAR GENETICS AND METABOLISM(2019)
摘要
Fabry disease (FD) is a progressive X-linked disorder from deficiency of α-galactosidase and lysosomal accumulation of glycolipids. This Fabry Registry (NCT00196742) analysis assessed renal and cardiac outcomes of agalsidase beta treatment (1 mg/kg 2-weekly) for ≥2 years in male patients with age at first treatment (AFT) of 5-30 years. GLA variants were classic or unclassified (fabry-database.org), which shared similar clinical features. Longitudinal post-treatment analyses included estimated glomerular filtration rate (eGFR, bedside Schwartz equation) stratified by low (LRI, urine protein-to-creatinine ratio [UPCR] ≤0.5 or albumin-to-creatinine ratio [UACR] ≤0.3), or high renal involvement (HRI, UPCR u003e0.5 or UACR u003e0.3), and Z-scores of cardiac interventricular septum thickness (IVST) and left ventricular posterior wall thickness (LVPWT), stratified by median AFT. The 31 HRI patients had higher AFT and lower baseline eGFR compared to 189 LRI patients (median AFT: 26.1 vs. 17.1 years eGFR: 81 vs. 92.6 ml/min/1.73m 2 P
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