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Renal growth in isolated methylmalonic acidemia
Paul S Kruszka1, Irini Manoli, Jennifer L Sloan
1Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Summary
Kidney size is significantly reduced in patients with methylmalonic acidemia. Renal growth can be predicted using clinical factors like height, cystatin C, and methylmalonic acid levels.
Area of Science:
- Nephrology
- Metabolic Disorders
- Genetics
Background:
- Isolated methylmalonic acidemia is a group of inherited metabolic disorders.
- These disorders are associated with an increased risk of chronic kidney disease.
- Understanding renal growth patterns is crucial for managing patients with this condition.
Purpose of the Study:
- To predict renal growth in patients with isolated methylmalonic acidemia.
- To identify clinical and metabolic factors influencing kidney size in this cohort.
- To develop predictive models for renal growth in methylmalonic acidemia.
Main Methods:
- A cohort of 50 patients with methylmalonic acidemia was studied using a combined cross-sectional and longitudinal design.
- Data collected included renal ultrasound, anthropometric measurements, and metabolic phenotyping.
- Multiple regression analyses were used to model renal length against clinical parameters and compare with healthy controls.
Main Results:
- Renal length was significantly decreased in patients with methylmalonic acidemia compared to age-matched controls (P < 0.05).
- Height, serum cystatin C, and serum methylmalonic acid concentrations were the strongest predictors of kidney size.
- Nomograms for methylmalonic acidemia kidney growth were developed, showing significant differences from controls (P < 0.001).
Conclusions:
- Renal length, a marker of kidney growth, is significantly reduced in patients with methylmalonic acidemia.
- Kidney size in this population can be predicted using clinical parameters such as height, cystatin C, and methylmalonic acid levels.
- Elevated cystatin C and methylmalonic acid levels correlate with smaller kidneys and impaired renal function.
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