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Chronic Kidney Disease

Management in Patients with Fabry Disease.

IMPORTANCE OF MONITORING AND MANAGING CKD IN FABRY DISEASE

• CKD progression is associated with increased all-cause and cardiovascular mortality.1,2
• In young patients with Fabry disease, progressive podocyte injury caused by the accumulation of GL3 correlates with an increased UACR.3
• Proteinuria, specifically albuminuria, is a significant risk factor and an important clinical marker for Fabry nephropathy.4

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Association of albuminuria and GFR with All-Cause Mortality1

 

Translating CKD Risk Classes into CVD Risk Classes2

Fabry nephropathy is a progressive proteinuric CKD of metabolic origin.5,6

CKD DIAGNOSTIC CRITERIA1

CKD is diagnosed when either of the following is present for more than 3 months:
• Histological evidence of kidney damage
• Laboratory evidence of kidney damage, indicated by abnormal UACR
• Decreased kidney function, as shown by a reduced eGFR

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TREATMENT GOALS IN FABRY NEPHROPATHY

• Stabilize eGFR or slow eGFR slopes7
• Reduce or stabilize albuminuria8
     ◦ A2 albuminuria (30-300 mg/g) is likely reversible in Fabry disease
     ◦ A3 albuminuria (≥300 mg/g) is likely not reversible in Fabry disease
• Proteinuria increases only when albuminuria reaches the A3 category

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SCHEDULE FOR RENAL MONITORING IN FABRY DISEASE AS RECOMMENDED BY EXPERTS7

IMPORTANCE OF MONITORING LYSO-GL3 LEVELS7,9-11

In Fabry disease, monitoring lyso-GL3 levels is crucial for assessing renal involvement and guiding treatment, as early detection of elevated lyso-GL3 can lead to timely interventions, preventing or delaying CKD and improving patient outcomes.

The accumulation of lyso-GL3 causes significant kidney damage by inducing inflammation, oxidative stress, and fibrosis in renal cells.

 

eGFR AND RESPONSE TO TREATMENT IN ADULT PATIENTS WITH FABRY DISEASE12

NEPHROPROTECTIVE STRATEGY IN FABRY DISEASE7,13

References

1. KDIGO 2012 Clinical Practice Guideline for CKD. Kidney Int Suppl.2013;3:1–150.
2. Ortiz A, et al. Eur J Prev Cardiol. 2022;29:2211–2215.
3. Najafian B, et al. Kidney Int. 2011;79(6):663-670.
4. Wanner C, et al. Clin J Am Soc Nephrol. 2010;5(12):2220-8.
5. Ortiz A, et al. Nephrol Dial Transplant. 2010;25(3):769–775.
6. Ortiz A, et al. Nephrol Dial Transplant. 2008;23:1600–1607.
7. Ortiz A, et al. Mol Genet Metab. 2018;123:416-427.
8. Wanner C, et al. Mol Genet Metab. 2018;124:189–203
9. Ortiz A, Sanchez-Niño MD. Port J Nephrol Hypert. 2017;31:200-6.
10. Sanchez-Niño MD, et al. Nephrol Dial Transplant. 2011;26:1797-802.
11. Sanchez-Niño MD, et al. Hum Mol Genet. 2015;24:5720-32.
12. Pisani A, et al. Nephrol Dial Transplant. 2024;39:18–25.
13. KDIGO 2024 Clinical Practice Guideline for CKD. Kidney Int. 2024;105(4S):S117–S314.

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