Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience
Our study shows an increased effectiveness of molecular diagnosis and highlights the benefits of genetic testing. NL associated with NC and the presence of chronic kidney disease are the characteristics that should prompt the clinician to suspect an inherited form of NL and/or NC.
Authors
- Sonia Bălănică
- A. Popescu (ORCID: https://orcid.org/0000-0002-4216-5415)
- Adrian Lungu (ORCID: https://orcid.org/0000-0003-2025-3315)
- Gener Ismail (ORCID: https://orcid.org/0000-0003-3306-189X)
- Bogdan Sorohan (ORCID: https://orcid.org/0000-0003-3574-4635)
- Diana Zilişteanu
- Elena Rusu (ORCID: https://orcid.org/0009-0000-0801-6451)
- Alexandru Iordache
- Raluca Bobeică
- Robert Pandele
Institutions
- Carol Davila University of Medicine and Pharmacy (RO)
- Institutul Clinic Fundeni (RO)
Publication Details
- Journal
- Genes
- Published
- 2025-04-27
- DOI
- https://doi.org/10.3390/genes16050501
- Citations
- 3
- Primary Topic
- Kidney Stones and Urolithiasis Treatments
- Type
- article
- Field-Weighted Citation Impact
- 4.56