Kidney disease and organ transplantation in methylmalonic acidaemia
Corresponding Author
Damien Noone
Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada
Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada
Correspondence
Damien Noone, Department of Paediatrics, University of Toronto Staff Physician, Division of Nephrology The Hospital for Sick Children Division of Nephrology 555 University Avenue, Toronto, ON M5G 1X8, Canada.
E-mail: [email protected]
and
Chitra Prasad, Genetics, Metabolism and Paediatrics, Western University, London, ON, Canada.
Email: [email protected]
Search for more papers by this authorMagdalena Riedl
Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada
Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada
Search for more papers by this authorPaul Atkison
Department of Paediatrics, Western University, London, Ontario, Canada
Search for more papers by this authorYaron Avitzur
Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada
Division of Gastroenterology, Hepatology and Nutrition, University of Alberta/Stollery Children’s Hospital, Edmonton, Alberta, Canada
Search for more papers by this authorAjay P Sharma
Department of Paediatrics, Western University, London, Ontario, Canada
Search for more papers by this authorGuido Filler
Department of Paediatrics, Western University, London, Ontario, Canada
Search for more papers by this authorKomudi Siriwardena
Department of Medical Genetics, University of Alberta/Stollery Children's Hospital, Edmonton, Alberta, Canada
Search for more papers by this authorCorresponding Author
Chitra Prasad
Department of Paediatrics, Western University, London, Ontario, Canada
Correspondence
Damien Noone, Department of Paediatrics, University of Toronto Staff Physician, Division of Nephrology The Hospital for Sick Children Division of Nephrology 555 University Avenue, Toronto, ON M5G 1X8, Canada.
E-mail: [email protected]
and
Chitra Prasad, Genetics, Metabolism and Paediatrics, Western University, London, ON, Canada.
Email: [email protected]
Search for more papers by this authorCorresponding Author
Damien Noone
Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada
Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada
Correspondence
Damien Noone, Department of Paediatrics, University of Toronto Staff Physician, Division of Nephrology The Hospital for Sick Children Division of Nephrology 555 University Avenue, Toronto, ON M5G 1X8, Canada.
E-mail: [email protected]
and
Chitra Prasad, Genetics, Metabolism and Paediatrics, Western University, London, ON, Canada.
Email: [email protected]
Search for more papers by this authorMagdalena Riedl
Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada
Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada
Search for more papers by this authorPaul Atkison
Department of Paediatrics, Western University, London, Ontario, Canada
Search for more papers by this authorYaron Avitzur
Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada
Division of Gastroenterology, Hepatology and Nutrition, University of Alberta/Stollery Children’s Hospital, Edmonton, Alberta, Canada
Search for more papers by this authorAjay P Sharma
Department of Paediatrics, Western University, London, Ontario, Canada
Search for more papers by this authorGuido Filler
Department of Paediatrics, Western University, London, Ontario, Canada
Search for more papers by this authorKomudi Siriwardena
Department of Medical Genetics, University of Alberta/Stollery Children's Hospital, Edmonton, Alberta, Canada
Search for more papers by this authorCorresponding Author
Chitra Prasad
Department of Paediatrics, Western University, London, Ontario, Canada
Correspondence
Damien Noone, Department of Paediatrics, University of Toronto Staff Physician, Division of Nephrology The Hospital for Sick Children Division of Nephrology 555 University Avenue, Toronto, ON M5G 1X8, Canada.
E-mail: [email protected]
and
Chitra Prasad, Genetics, Metabolism and Paediatrics, Western University, London, ON, Canada.
Email: [email protected]
Search for more papers by this authorAbstract
Objectives
MMA 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 methods
Retrospective chart review of all cases of MMA who underwent organ transplantation over the last 10 years.
Results
Five 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.
Conclusions
MMA 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.
Supporting Information
| Filename | Description |
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| petr13407-sup-0001-FigS1.tifimage/tif, 4.6 MB | |
| petr13407-sup-0002-FigS2.tifimage/tif, 4.8 MB | |
| petr13407-sup-0003-Legends.docxWord document, 62.9 KB | |
| petr13407-sup-0004-Normal_values.docxWord document, 10.8 KB |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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