Open AccessRenal Manifestations of Tuberous Sclerosis Complex
Author(s) -
Nikhil Nair,
Ronith Chakraborty,
Zubin Mahajan,
Aditya Sharma,
Sidharth Kumar Sethi,
Rupesh Raina
Publication year - 2020
Publication title -
journal of kidney cancer and vhl
Language(s) - English
Resource type - Journals
ISSN - 2203-5826
DOI - 10.15586/jkcvhl.2020.131
Subject(s) - tuberous sclerosis , tsc1 , tsc2 , medicine , angiomyolipoma , pathology , neurocognitive , disease , kidney disease , kidney , biology , genetics , apoptosis , cognition , pi3k/akt/mtor pathway , psychiatry
Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors, and seizures. TSC can manifest in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts, and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.