Dataset Information
Chronic kidney disease in propionic acidemia.
Ontology highlight
ABSTRACT:
Methods: Thirty-one subjects diagnosed with PA underwent laboratory and clinical evaluations through a dedicated natural history study at the National Institutes of Health (ClinicalTrials.gov identifier: NCT02890342).
Results: Cross-sectional analysis of the creatinine-based estimated glomerular filtration rate (eGFR) in subjects with native kidneys revealed an age-dependent decline in renal function (P?2. There was a significant discrepancy between eGFRs calculated using estimating equations based on serum creatinine compared with serum cystatin C (P?
Conclusion: CKD is common in adults with PA and is associated with age. The poor predictive performance of standard eGFR estimating equations, likely due to reduced creatine synthesis in kidney and liver, could delay the recognition of CKD and management of ensuing complications in this population.
SUBMITTER: Shchelochkov OA
PROVIDER: S-EPMC7045176 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Publications
Chronic kidney disease in propionic acidemia.
Genetics in medicine : official journal of the American College of Medical Genetics 20190628 12
<h4>Purpose</h4>Propionic acidemia (PA) is a severe metabolic disorder characterized by multiorgan pathology, including renal disease. The prevalence of chronic kidney disease (CKD) in PA patients and factors associated with CKD in PA are not known.<h4>Methods</h4>Thirty-one subjects diagnosed with PA underwent laboratory and clinical evaluations through a dedicated natural history study at the National Institutes of Health (ClinicalTrials.gov identifier: NCT02890342).<h4>Results</h4>Cross-secti ...[more]