Kidney disease and organ transplantation in methylmalonic acidaemia.

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 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.

• Authors: Damien Noone, Magdalena Riedl, Paul Atkison, Yaron Avitzur, Ajay P Sharma, Guido Filler, Komudi Siriwardena, Chitra Prasad
• Journal: Pediatric transplantation (Pediatr Transplant) Vol. 23 Issue 4 Pg. e13407 (06 2019) ISSN: 1399-3046 [Electronic] Denmark
• PMID: 30973671 (Publication Type: Journal Article)
• Copyright: © 2019 Wiley Periodicals, Inc.

Chemical References

• Cystatin C
• Ubiquinone
• Vitamin E
• Creatinine
• Vitamin B 12
• Carnitine

Topics

• Amino Acid Metabolism, Inborn Errors (complications, surgery)
• Carnitine (administration & dosage)
• Child
• Child, Preschool
• Creatinine (blood)
• Cystatin C (blood)
• Disease Progression
• Female
• Glomerular Filtration Rate
• Humans
• Infant
• Infant, Newborn
• Kidney Failure, Chronic (complications, surgery)
• Kidney Transplantation
• Liver Transplantation
• Male
• Nephritis, Interstitial (complications, surgery)
• Postoperative Complications
• Renal Dialysis
• Retrospective Studies
• Ubiquinone (administration & dosage)
• Vitamin B 12 (genetics)
• Vitamin E (administration & dosage)