Title

Tuberous sclerosis presenting along with autosomal dominant polycystic kidney disease (ADPKD): A rare presentation

Authors

Pushpendra Singh Sengar*, Amit Saxena & Anurag Jain

Affiliation

Department of Medicine, Bundelkhand Medical College and Hospital, Sagar, Madhya Pradesh, India; *Corresponding author

Email

Pushpendra Singh Sengar - E-mail: sengarpraveen007@gmail.com
Amit Saxena - E-mail: drsaxenaamit04@gmail.com
Anurag Jain - E-mail: navokaranu92@gmail.com
 

Article Type

Views

Date

Received May 1, 2025; Revised May 31, 2025; Accepted May 31, 2025, Published May 31, 2025

Abstract

Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two different genetic diseases. Although these two diseases are associated very rarely, the association is well recognized. This occurs due to a large deletion involving both PKD-1 and TSC-2 genes on chromosome 16. This is also known as TSC-2/PKD-1 contiguous gene syndrome. We present a case of a 19-year-old male, presenting with hematuria and tuberous sclerosis phenotype whose USG abdomen and CT scan of head and abdomen revealed bilateral multiple renal cysts and sub-ependymal nodules suggestive of having Tuberous sclerosis along with ADPKD.

Keywords

Tuberous sclerosis complex (TSC), autosomal dominant polycystic kidney disease (ADPKD), TSC2-PKD1 contiguous gene syndrome, renal manifestation, genetic syndromes, neurocutaneous syndromes, renal cysts

Citation

Sengar et al. Bioinformation 21(5): 1705-1708 (2025)

Edited by

Neelam Goyal & Shruti Dabi

ISSN

0973-2063

Publisher

Biomedical Informatics

License

This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.