Matching clinical and genetic data in pediatric patients at risk of developing cystic kidney disease
This study suggests that cystic kidney disease may develop since the very early stages of life and that screening programs based on ultrasound scans and genetic testing play a critical role in diagnosis, allowing for better clinical management and tailored genetic counseling to the family.
Authors
- Vitor Hugo Martins
- Licia Peruzzi (ORCID: https://orcid.org/0000-0002-5704-3867)
- Tiziana Vaisitti (ORCID: https://orcid.org/0000-0002-3375-6985)
- Carmelo Maria Romeo
- Angelo Corso Faini (ORCID: https://orcid.org/0000-0003-2193-4577)
- Roberta Camilla (ORCID: https://orcid.org/0000-0001-6441-8957)
- Antonio Amoroso (ORCID: https://orcid.org/0000-0002-9437-9407)
- Fiorenza Mioli
- Valeria Bracciamà
- Martina Migliorero
- Francesca Arruga (ORCID: https://orcid.org/0000-0001-5298-9314)
- Giulia Margherita Brach Del Prever (ORCID: https://orcid.org/0009-0004-8155-0449)
- Silvia Deaglio (ORCID: https://orcid.org/0000-0003-0632-5036)
- Diana Carli (ORCID: https://orcid.org/0000-0001-5690-6504)
- Pietro Lonardi
- Silvia Pieretti
- Francesca Mattozzi
- Claudia Saglia (ORCID: https://orcid.org/0009-0009-1564-0389)
- Maria Luca (ORCID: https://orcid.org/0009-0006-1239-0829)
Institutions
- Department of Medical Sciences (RU)
- University of Turin (IT)
Publication Details
- Journal
- Pediatric Nephrology
- Published
- 2024-10-10
- DOI
- https://doi.org/10.1007/s00467-024-06548-6
- Citations
- 2
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Ministero dell’Istruzione, dell’Università e della Ricerca
- Università degli Studi di Torino