The kidney in genetic metabolic disorders

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.