Renal manifestations of tuberous sclerosis complex.

Renal manifestations of tuberous sclerosis complex.

Nair N;Chakraborty R;Mahajan Z;Sharma A;Sethi SK;Raina R

Journal Of Kidney Cancer And VHL

2020

2020-08-27

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. (Copyright: Nair N et al.)

angiomyolipoma; autosomal polycystic kidney disease; renal cystic disease; tuberous sclerosis; Von Hippel–Lindau disease

Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).

journalArticle

5-19

3

7

2203-5826

NEOMED College of Graduate Studies

NEOMED College of Medicine

Department of Internal Medicine

NEOMED Student Publications

September 2020 List

Cleveland Clinic Akron General Hospital