Abstract
Advances in the field of genetics and genomics have had a great impact on the clinical practice of the pediatric nephrologist. Access to diagnostic genetic studies for renal pathologies allows not only to confirm specific diagnoses, but also to provide management and follow-up strategies, knowledge about prognosis, and prevention of complications. In addition, it provides genetic counseling to the patient and family and even helps to make decisions about family donor trans-plantation. The objective of this review is to cover basic knowledge of genetics, available tech-nologies for genetic diagnosis, the main groups of renal diseases that benefit from these studies, and the importance of their approach in medical clinical practice. Also, it highlights the trans-cendental role of collaborative action between pediatric nephrologists and clinical geneticists in a multidisciplinary team that leads to an adequate diagnostic approach in patients and supports a quality clinical practice.
| Translated title of the contribution | Importance of genetics in pediatric nephrology |
|---|---|
| Original language | Spanish |
| Pages (from-to) | 542-553 |
| Number of pages | 12 |
| Journal | Andes Pediatrica |
| Volume | 94 |
| Issue number | 4 |
| DOIs | |
| State | Published - 2023 |