Thematic area: Methylmalonic Acedemia

Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN

Reference:

Servais, Aude et al., Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN. Kidney International Reports (2024), in press. https://doi.org/10.1016/j.ekir.2024.09.002 

Collaboration: ERKNet, MetabERN

Key messages: 

1. Chronic Kidney Disease (CKD) is a significant clinical issue in MMA: It requires specialized follow-up in both pediatric and adult patients.

2. Kidney function estimation: Creatinine-based formulas overestimate kidney function; cystatin C provides a more accurate estimation of eGFR.

3. Dialysis management: Acute dialysis may be needed during metabolic decompensation, while long-term dialysis may be necessary to clear toxic metabolites. Extended or frequent dialysis sessions are often required.

4. Indications for transplantation: Kidney transplantation is recommended for patients with frequent metabolic decompensations, high disease burden, and poor metabolic control. Long-term complications also necessitate transplantation.

5. Combined liver-kidney transplantation (LKT): This is the preferred option for MMA patients with CKD.

6. Immunosuppressive treatment considerations: Monitoring and adapting immunosuppressive treatments is crucial due to the potential for calcineurin inhibitor (CNI)-induced neurotoxicity in MMA patients.