Regarding pathophysiology, TSC inactivation and mTOR activation in renal tubular epithelial cells are associated with tubular dedifferentiation, interstitial fibrosis, and cyst formation.7, 8, 9 As in nephronophthisis, inflammatory mediators secreted by tubular cells can trigger the recruitment of immune cells in response to mTOR activation.S3 We observed a strong expression of phosphorylated S6 ribosomal protein in dystrophic tubular epithelial cells, suggesting an overactivation of the mTOR pathway in this tubular cells. Here, TSC1 is linked to nephronophthisis.