Genetics in kidney diseases

from discovery to clinical application – an integrative literature review

Abstract

Chronic kidney disease represents a major public health problem and is associated with high morbidity, mortality, and significant socioeconomic impact. Although frequently attributed to acquired causes, a substantial proportion of adult cases may have an underlying genetic etiology that remains unrecognized in clinical practice. Objective: to analyze the applicability and clinical impact of genetic testing in the diagnosis of hereditary kidney diseases in adults. Method: an integrative literature review was conducted using the PubMed, SCIELO, and MEDLINE, including studies published between January 2019 and December 2024. Original studies involving individuals aged 18 years or older that evaluated the diagnostic yield and clinical impact of genetic testing in chronic kidney disease or hereditary glomerular diseases were included. After applying eligibility criteria, 24 studies comprised the final sample. Results: diagnostic yield ranged from 9.3% to 62%, with higher rates observed in patients with a positive family history or suggestive phenotype. The prevalence of monogenic etiology ranged from 13.8% to 27.9%, with COL4A3, COL4A4, and COL4A5 being the most frequently identified genes. Molecular diagnosis led to diagnostic reclassification in up to 35% of cases and impacted clinical management in 22% to 58% of patients. Conclusions: genetic testing demonstrates significant clinical utility in adults, contributing to greater diagnostic accuracy, individualized therapeutic strategies, and appropriate family counseling.