Long-term renal outcome in methylmalonic acidemia in adolescents and adults - Université de Picardie Jules Verne Accéder directement au contenu
Article Dans Une Revue Orphanet Journal of Rare Diseases Année : 2021

Long-term renal outcome in methylmalonic acidemia in adolescents and adults

Myriam Dao
Jean-Baptiste Arnoux
  • Fonction : Auteur
Frank Bienaimé
  • Fonction : Auteur
Anaïs Brassier
  • Fonction : Auteur
Jean-François Benoist
  • Fonction : Auteur
Clément Pontoizeau
Chris Ottolenghi
Pauline Krug
  • Fonction : Auteur
Olivia Boyer
Pascale de Lonlay
  • Fonction : Auteur
Aude Servais
  • Fonction : Auteur


Abstract Background Chronic kidney disease (CKD) is one of the main long-term prognosis factors in methylmalonic acidemia (MMA), a rare disease of propionate catabolism. Our objective was to precisely address the clinical and biological characteristics of long-term CKD in MMA adolescent and adult patients. Patients and methods In this retrospective study, we included MMA patients older than 13 years who had not received kidney and/or liver transplantation. We explored tubular functions, with special attention to proximal tubular function. We measured glomerular filtration rate (mGFR) by iohexol clearance and compared it to estimated glomerular filtration rate (eGFR) by Schwartz formula and CKD-EPI. Results Thirteen patients were included (M/F = 5/8). Median age was 24 years (13 to 32). Median mGFR was 57 mL/min/1.73 m 2 (23.3 to 105 mL/min/1.73 m 2 ). Ten out of 13 patients had mGFR below 90 mL/min/1.73 m 2 . No patient had significant glomerular proteinuria. No patient had complete Fanconi syndrome. Only one patient had biological signs suggestive of incomplete proximal tubulopathy. Four out of 13 patients had isolated potassium loss, related to a non-reabsorbable anion effect of urinary methylmalonate. Both Schwartz formula and CKD-EPI significantly overestimated GFR. Bias were respectively 16 ± 15 mL/min/1.73 m 2 and 37 ± 22 mL/min/1.73 m 2 . Conclusion CKD is a common complication of the MMA. Usual equations overestimate GFR. Therefore, mGFR should be performed to inform therapeutic decisions such as dialysis and/or transplantation. Mild evidence of proximal tubular dysfunction was found in only one patient, suggesting that other mechanisms are involved.

Dates et versions

hal-03815001 , version 1 (14-10-2022)



Myriam Dao, Jean-Baptiste Arnoux, Frank Bienaimé, Anaïs Brassier, François Brazier, et al.. Long-term renal outcome in methylmalonic acidemia in adolescents and adults. Orphanet Journal of Rare Diseases, 2021, 16 (1), pp.220. ⟨10.1186/s13023-021-01851-z⟩. ⟨hal-03815001⟩


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