From: Fabry nephropathy: a review – how can we optimize the management of Fabry nephropathy?
Recommendations | |
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Diagnosis and assessments | |
Confirm diagnosis | • Confirm presence of Fabry disease (by enzyme analysis in males and by gene mutation studies in females) |
• GFR <90 ml/min/1.73 m2 (CKD stage 1–5) | |
• Proteinuria: >30 mg/day or >30 mg/g creatinine (albuminuria); >300 mg/day or >300 mg/g creatinine (proteinuria) | |
• Other renal conditions excluded rigorously (even if a renal biopsy is needed to make that exclusion) | |
Kidney biopsy | • Histological injury can precede clinical signs, and provides a compelling indication for institution of ERT, especially in children and young adults |
• Excludes other conditions (especially in patients with atypical presentations) | |
• Confirms the diagnosis and stage and can be used to assess response to therapy | |
Initial assessment and follow-up | • Measure serum creatinine and use CKD-EPI equation to estimate the GFR |
• Use iohexol plasma clearance or isotopic methods (depending on local availability) for precise measurement of the GFR if the eGFR >60 ml/min/1.73 m2 | |
• Standard CKD assessment schedule | |
• Quantify urinary albumin and protein levels | |
• Calculate eGFR slope | |
Treatment | |
ERT | • Agalsidase alfa or beta at approved dose |
• Start ERT as soon as the definitive diagnosis has been made in patients with little or no residual enzyme activity | |
• Start ERT as soon as the definitive diagnosis has been made in patients with residual enzyme activity if there is evidence of kidney involvement | |
• ERT will not reduce proteinuria (in adults) | |
Control of proteinuria | • Use ACE inhibitors and/or ARBs in addition to ERT |
• Titrate doses to achieve urine protein <500 mg/day, even if blood pressure <130/180 mmHg | |
• Effects on progression are likely to occur only in the setting of optimal ERT dosing | |
Other therapy | • All other aspects of standard CKD care apply to the management of Fabry renal disease |