Renal cystic disease in tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is associated with TSC1 or TSC2 gene mutations resulting in hyperactivation of the mTORC1 pathway. This mTORC1 activation is associated with abnormal tissue development and proliferation such that in the kidney there are both solid tumors and cystic lesions. This review summarizes recent advances in tuberous sclerosis complex nephrology and focuses on the genetics and cell biology of tuberous sclerosis complex renal disease, highlighting a role of extracellular vesicles and the innate immune system in disease pathogenesis.

Automated summary

Tuberous sclerosis complex (TSC) is linked to TSC1 or TSC2 gene mutations, which lead to overactivation of the mTORC1 pathway, resulting in abnormal tissue development and proliferation in the kidney, including both solid tumors and cystic lesions. Recent research in TSC nephrology highlights the role of extracellular vesicles and the innate immune system in disease pathogenesis.