Renal Manifestations of Tuberous Sclerosis Complex.

Nikhil Nair,Aditya Sharma,Rupesh Raina,Sidharth K Sethi,Ronith Chakraborty,Zubin Mahajan

doi:10.15586/jkcvhl.2020.131

Abstract

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.

Highlights

Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease, characterized by lesions that involve multiple organs of the body and variable clinical manifestations
It has been observed in a systemic analysis by Seyam et al that there is a higher frequency of AML manifestations in patients with no identified mutations (NIM) than those with TSC1 mutations. These differences have not been observed between NIM and TSC2 [13]. These findings suggest that the renal manifestation of patients with NIM most closely resemble that of TSC2 instead of TSC1
According to the kidney-related surveillance and management recommendations by the International Tuberous Sclerosis Complex Consensus Group, magnetic resonance imaging (MRI) is the preferred modality for detection of renal cysts of autosomal dominant polycystic kidney disease (ADPKD) and TSC-associated AML, which is supplemented with frequent blood pressure screening and glomerular filtration rate (GFR) estimation [11]

Summary

Introduction

Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease, characterized by lesions that involve multiple organs of the body and variable clinical manifestations. Renal AMLs are the most common benign tumors observed in TSC patients. The presentation of AMLs has been reported in 75–85% of TSC patients with renal lesions and

Results

Conclusion