Litcius/Paper detail

Renal Manifestations of Tuberous Sclerosis Complex

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

2020Journal of Kidney Cancer and VHL43 citationsDOIOpen Access PDF

Abstract

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.

Topics & Concepts

Tuberous sclerosisTSC1TSC2MedicineAngiomyolipomaPathologyNeurocognitiveDiseaseKidney diseaseKidneyBiologyInternal medicineGeneticsApoptosisCognitionPsychiatryPI3K/AKT/mTOR pathwayTuberous Sclerosis Complex ResearchRenal cell carcinoma treatmentGenetic and Kidney Cyst Diseases