Journal article
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis
Molecular genetics and metabolism, Vol.137(3), pp.265-272
10/03/2022
DOI: 10.1016/j.ymgme.2022.09.010
Abstract
BACKGROUNDMethylmalonic 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 combined liver-kidney transplantation (LKTx) have been suggested. However, the impact of these different transplant strategies on outcome are unclear. METHODSIn 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). RESULTSTwenty-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 ± 1101 μmol/L) was 7.8-fold higher than in LTx (176 ± 103 μmol/L; P < 0.001) and 6.4-fold higher than in LKTx (215 ± 110 μmol/L; P < 0.001). Comparable data were observed at month 24. At time of transplantation, mean eGFR in KTx was 18.1 ± 24.3 mL/min/1.73 m2, in LTx 99.8 ± 29.9 mL/min/1.73 m2, and in LKTx 31.5 ± 21.2 mL/min/1.73 m2. At month 12 posttransplant, mean eGFR in KTx (62.3 ± 30.3 mL/min/1.73 m2) was 33.4% lower than in LTx (93.5 ± 18.3 mL/min/1.73 m2; P = 0.0053) and 25.4% lower than in LKTx (83.5 ± 26.9 mL/min/1.73 m2; P = 0.0403). CONCLUSIONSIn 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.
Details
- Title: Subtitle
- Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis
- Creators
- Luca Dello StrologoMarco SpadaCarlo Dionisi ViciMarta Ciofi Degli AttiMichelle RheaultAnna Kristina BjerreOlivia BoyerPier Luigi CalvoLorenzo D'AntigaLyndsay A HarshmanFriederike HörsterStefan KölkerTimo JahnukainenNoël KnopsPauline KrugKai KrupkaAngela LeeElena LevtchenkoStephen D MarksJelena StojanovicLaura MartelliGeorge MazariegosGiovanni MontiniMohan ShenoySangeet SidhuTrine TangerasSara TestaSuresh VijayKatarzyna WacLars WennbergWaldo ConcepcionSven F GarbadeBurkhard Tönshoff
- Resource Type
- Journal article
- Publication Details
- Molecular genetics and metabolism, Vol.137(3), pp.265-272
- DOI
- 10.1016/j.ymgme.2022.09.010
- eISSN
- 1096-7206
- Language
- English
- Date published
- 10/03/2022
- Academic Unit
- Nephrology, Dialysis and Transplantation; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Radiation Oncology
- Record Identifier
- 9984306754902771
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