Kidney disease and organ transplantation in methylmalonic acidaemia. (11th April 2019)

• Record Type: Journal Article
• Authors: Noone, Damien; Riedl, Magdalena; Atkison, Paul; Avitzur, Yaron; Sharma, Ajay P; Filler, Guido; Siriwardena, Komudi; Prasad, Chitra
• Is Part Of: Pediatric transplantation. Volume 23:Number 4(2019)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2019-04-11
• Subjects: cystatin C -- eGFR -- hyperammonemia -- kidney disease -- methylmalonic academia; Transplantation of organs, tissues, etc. in children -- Periodicals; 617.95408305
• DOI: 10.1111/petr.13407
• Languages: English
• ISSNs: 1397-3142

Abstract

Abstract: 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 Mut 0 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.