Tuberous Sclerosis Complex–Associated Tubulointerstitial Kidney Disease
Year: 2025
Type: article
Abstract: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease caused by TSC1 or TSC2 mutations, leading to mammalian target of rapamycin (mTOR) overactivation.1 It is characterized by various benign tumors. Renal involvement mainly includes angiomyolipomas (AMLs) or renal cysts. Chronic kidney disease (CKD) in patients with TSC is rare and is usually attributed to nephron reduction related to AML size, ablative therapy, or surgery.2-4 According to various cohorts, the prevalence of stage 2 CKD is 25% and that of stage 3 CKD approximately 7%, with a median age of onset of renal failure in the fourth decade of life.
Source: Kidney International Reports
Institutions: Hôpital Necker-Enfants Malades, Université Paris Cité, Assistance Publique – Hôpitaux de Paris, Inserm, Aix-Marseille Université, Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement, Hôpital de la Conception, Centre de Recherche en CardioVasculaire et Nutrition
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,800
OpenAlex ID: W4409236047