The kidney in genetic metabolic disorders
Abstract
Genetic metabolic kidney diseases arise from (likely) pathogenic variants affecting kidney metabolism, causing progressive kidney dysfunction. Symptoms include but are not restricted to nephrolithiasis, proteinuria, kidney failure, and extrarenal manifestations. Genetic testing in combination with metabolic profiling aids early diagnosis and personalized management strategies, which may include enzyme replacement, dietary changes, and kidney-related therapies. Advances in gene therapy and precision medicine offer hope for better outcomes. Early diagnosis and intervention are key to improving prognosis and quality of life, emphasizing the importance of advancing combined metabolic/genetic testing and treatment approaches.
Fields of Study & Subjects
Metabolism and Genetic Disorders
Glycogen Storage Diseases and Myoclonus
Genetic and Kidney Cyst Diseases
Publication details
- Journal / source
- Medizinische Genetik
- Volume
- 38
- Issue
- 1
- Pages
- 39–50
- Publication date
- 3 February 2026
- Language
- EN