Work

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

Year: 2025

Type: article

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.

Source: Bioinformation

DOI: 10.6026/973206300211705

Authors: Pushpendra Singh Sengar, Amit Saxena, Anurag Jain

Institution: Bundelkhand Medical College

Language: English

Topic: Tuberous Sclerosis Complex Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4412048230