Table 1.

Recommendations for the management of Fabry renal disease in adults

	Recommendations
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

ACE: angiotensin-converting enzyme; ARB: angiotensin-receptor blocker; CKD: chronic kidney disease; CKD-EPI: Chronic Kidney Disease Epidemiology Collaboration; eGFR: estimated glomerular filtration rate; ERT: enzyme replacement therapy; GFR: glomerular filtration rate.

Adapted and republished with permission of American Society of Nephrology, from [Enzyme replacement therapy and Fabry renal disease. Warnock DG et al. Clin J Am Soc Nephrol 5: 2010]; permission conveyed through Copyright Clearance Centre, Inc. [34].