Kidney disease and organ transplantation in methylmalonic acidaemia

Pediatric Transplantation - Tập 23 Số 4 - 2019
Damien Noone1,2, Magdalena Riedl1,2, Paul Atkison3, Yaron Avitzur1,4, Ajay P. Sharma3, Guido Filler3, Komudi Siriwardena5, Chitra Prasad3
1Department of Paediatrics, University of Toronto, Toronto, Ontario Canada
2Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada
3Department of Paediatrics, Western University, London, Ontario, Canada
4Division of Gastroenterology, Hepatology and Nutrition, University of Alberta/Stollery Children's Hospital, Edmonton, Alberta, Canada
5Department of Medical Genetics, University of Alberta, Stollery Children's Hospital, Edmonton, Alberta, Canada

Tóm tắt

AbstractObjectivesMMA is associated with chronic tubulointerstitial nephritis and a progressive decline in GFR. Optimal management of these children is uncertain. Our objectives were to document the pre‐, peri‐, and post‐transplant course of all children with MMA who underwent liver or combined liver‐kidney transplant in our centers.Design and methodsRetrospective chart review of all cases of MMA who underwent organ transplantation over the last 10 years.ResultsFive children with MMA underwent liver transplant (4/5) and combined liver‐kidney transplant (1/5). Three were Mut0 and two had a cobalamin B disorder. Four of five were transplanted between ages 3 and 5 years. Renal dysfunction prior to transplant was seen in 2/5 patients. Post‐transplant (one liver transplant and one combined transplant) renal function improved slightly when using creatinine‐based GFR formula. We noticed in 2 patients a big discrepancy between creatinine‐ and cystatin C‐based GFR calculations. One patient with no renal disease developed renal failure post–liver transplantation. Serum MMA levels have decreased in all to <300 μmol/L. Four patients remain on low protein diet, carnitine, coenzyme Q, and vitamin E post‐transplant.ConclusionsMMA is a complex metabolic disorder. Renal disease can continue to progress post–liver transplant and close follow‐up is warranted. More research is needed to clarify best screening GFR method in patients with MMA. Whether liver transplant alone, continued protein restriction, or the addition of antioxidants post‐transplant can halt the progression of renal disease remains unclear.

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Pediatric Transplantation

Tập 23 Số 4

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