Background: Methylmalonic acidemia (MMAemia) is characterized by accumulation of methylmalonic acid (MMA) in all body tissues. To minimize disease-related complications, isolated kidney (KTx), liver (LTx) or com-bined liver-kidney transplantation (LKTx) have been suggested. However, the impact of these different trans -plant strategies on outcome are unclear.Methods: In this multicenter retrospective observational study, we compared plasma MMA levels and estimated glomerular filtration rate (eGFR) data of 83 patients. Sixty-eight patients (82%) had a mut0-type MMAemia, one patient had a mut--type MMAemia, and seven (7.3%) had an inherited defect in cobalamin metabolism (cblA-or cblB-type MMAemia). Median observation period was 3.7 years (0-15.1 years).Results: Twenty-six (31%) patients underwent KTx, 24 (29%) LTx and 33 (40%) LKTx. Posttransplant, mean plasma MMA concentration significantly decreased in all three cohorts; but at month 12, plasma MMA in KTx (1372 & PLUSMN; 1101 mu mol/L) was 7.8-fold higher than in LTx (176 & PLUSMN; 103 mu mol/L; P < 0.001) and 6.4-fold higher than in LKTx (215 & PLUSMN; 110 mu mol/L; P < 0.001). Comparable data were observed at month 24. At time of transplan-tation, mean eGFR in KTx was 18.1 & PLUSMN; 24.3 mL/min/1.73 m2, in LTx 99.8 & PLUSMN; 29.9 mL/min/1.73 m2, and in LKTx 31.5 & PLUSMN; 21.2 mL/min/1.73 m2. At month 12 posttransplant, mean eGFR in KTx (62.3 & PLUSMN; 30.3 mL/min/1.73 m2) was 33.4% lower than in LTx (93.5 & PLUSMN; 18.3 mL/min/1.73 m2; P = 0.0053) and 25.4% lower than in LKTx (83.5 & PLUSMN; 26.9 mL/min/1.73 m2; P = 0.0403).Conclusions: In patients with isolated MMAemia, LTx and LKTx lead to markedly lower plasma MMA levels during the first 2 years posttransplant than KTx and are associated with a better preservation of kidney function. LTx should therefore be part of the transplant strategy in MMAemia.(c) 2022 Elsevier Inc. All rights reserved.
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis
Spada, Marco;
2022-01-01
Abstract
Background: Methylmalonic acidemia (MMAemia) is characterized by accumulation of methylmalonic acid (MMA) in all body tissues. To minimize disease-related complications, isolated kidney (KTx), liver (LTx) or com-bined liver-kidney transplantation (LKTx) have been suggested. However, the impact of these different trans -plant strategies on outcome are unclear.Methods: In this multicenter retrospective observational study, we compared plasma MMA levels and estimated glomerular filtration rate (eGFR) data of 83 patients. Sixty-eight patients (82%) had a mut0-type MMAemia, one patient had a mut--type MMAemia, and seven (7.3%) had an inherited defect in cobalamin metabolism (cblA-or cblB-type MMAemia). Median observation period was 3.7 years (0-15.1 years).Results: Twenty-six (31%) patients underwent KTx, 24 (29%) LTx and 33 (40%) LKTx. Posttransplant, mean plasma MMA concentration significantly decreased in all three cohorts; but at month 12, plasma MMA in KTx (1372 & PLUSMN; 1101 mu mol/L) was 7.8-fold higher than in LTx (176 & PLUSMN; 103 mu mol/L; P < 0.001) and 6.4-fold higher than in LKTx (215 & PLUSMN; 110 mu mol/L; P < 0.001). Comparable data were observed at month 24. At time of transplan-tation, mean eGFR in KTx was 18.1 & PLUSMN; 24.3 mL/min/1.73 m2, in LTx 99.8 & PLUSMN; 29.9 mL/min/1.73 m2, and in LKTx 31.5 & PLUSMN; 21.2 mL/min/1.73 m2. At month 12 posttransplant, mean eGFR in KTx (62.3 & PLUSMN; 30.3 mL/min/1.73 m2) was 33.4% lower than in LTx (93.5 & PLUSMN; 18.3 mL/min/1.73 m2; P = 0.0053) and 25.4% lower than in LKTx (83.5 & PLUSMN; 26.9 mL/min/1.73 m2; P = 0.0403).Conclusions: In patients with isolated MMAemia, LTx and LKTx lead to markedly lower plasma MMA levels during the first 2 years posttransplant than KTx and are associated with a better preservation of kidney function. LTx should therefore be part of the transplant strategy in MMAemia.(c) 2022 Elsevier Inc. All rights reserved.
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Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia A multicenter analysis. Mol Genet Metab. 2022.pdf
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