Table 1 Recommendations for the management of Fabry renal disease in adults

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