The prospect of novel orphan therapeutic protocol for TSC2/PKD1 contiguous gene syndrome: a case report

The prospect of novel orphan therapeutic protocol for TSC2/PKD1 contiguous gene syndrome: a case report

Abstract Background Autosomal dominant polycystic kidney disease (ADPKD, OMIM # 601313, # 173900) and tuberous sclerosis complex (TSC2, OMIM # 191092, #613254) are inherited multisystemic diseases that rarely associate. Large deletion on chromosome 16 can result in TSC2/PKD1 contiguous gene (deletio...

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Bibliographic Details
Main Authors: Bogdan D. Agavriloaei, Radu C. Costache, Ramona G. Babici, Stela Racoviță, Gianina Dodi, Adrian C. Covic, Irina L. Mititiuc
Format: Article
Language:English
Published: BMC 2025-04-01
Series:BMC Nephrology
Subjects:
Case report
TSC2/PKD1 contiguous gene deletion syndrome (PKDTS)
Autosomal dominant polycystic kidney disease (ADPKD)
Tuberous sclerosis complex (TSC)
Tolvaptan therapy
Everolimus therapy
Online Access:https://doi.org/10.1186/s12882-025-04088-1
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https://doi.org/10.1186/s12882-025-04088-1

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