The prospect of novel orphan therapeutic protocol for TSC2/PKD1 contiguous gene syndrome: a case report
This case illustrates the importance of recognizing overlapping genetic disorders, and providing insights into an innovative therapeutic approach. By integrating detailed clinical assessment with genetic testing, the diagnosis was clarified, and targeted therapies can be selected to address the dual impact of ADPKD and TSC; however, further studies are needed to evaluate the efficacy and safety of this approach. We also emphasize the need to recognize other cases of renal polycystic disease associated with angiomyolipomas and cutaneous manifestations.
Authors
- Gianina Dodi (ORCID: https://orcid.org/0000-0002-5551-6077)
- Racoviță Stela (ORCID: https://orcid.org/0000-0002-0900-0096)
- Adrian Covic (ORCID: https://orcid.org/0000-0002-9985-2486)
- Radu Cristian Costache
- Luanda Irina Mititiuc (ORCID: https://orcid.org/0009-0002-1173-2824)
- Bogdan Dumitru Agavriloaei (ORCID: https://orcid.org/0009-0007-4376-2880)
- Ramona G. Babici (ORCID: https://orcid.org/0009-0001-0767-3692)
Institutions
- Grigore T. Popa University of Medicine and Pharmacy (RO)
- Nicolae Testemițanu State University of Medicine and Pharmacy (MD)
- Spitalul Clinic Dr. C. I. Parhon (RO)
Publication Details
- Journal
- BMC Nephrology
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1186/s12882-025-04088-1
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00