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

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 (1

SUBMITTER: Dao M 

PROVIDER: S-EPMC8120835 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature