Treatment of Renal Angiomyolipoma in Tuberous Sclerosis Complex (TSC) Patients

Overview

Journal Pediatr Nephrol

Specialties Nephrology
Pediatrics

Date 2016 Sep 3

PMID 27585680

Citations 10

Authors

S Brakemeier

F Bachmann

K Budde

Affiliations

Soon will be listed here.

Abstract

In adult tuberous sclerosis complex (TSC) patients, renal complications are the leading cause of death. Beginning in childhood, up to 80 % of patients develop renal angiomyolipoma characterized by a size-dependent risk of life-threatening bleeding. After discovery of the two causative genes, TSC1 and TSC2, and the role of mammalian target of rapamycin (mTOR) regulation in the pathogenesis of TSC, an increasing number of clinical studies evaluating mTOR inhibition in TSC patients have shown impressive results in many organ manifestations, such as brain, lung, and kidney. For renal angiomyolipoma, mTOR inhibitor treatment fundamentally changed the approach from preventive embolization or even partial nephrectomy to everolimus treatment in order to preserve kidney function.

Citing Articles

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A case of tuberous sclerosis complex revealed by epilepsy.

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Chemical Biology Screening Identifies a Vulnerability to Checkpoint Kinase Inhibitors in TSC2-Deficient Renal Angiomyolipomas.

Vaughan R, Kordich J, Chan C, Sasi N, Celano S, Sisson K Front Oncol. 2022; 12:852859.

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New Trends and Evidence for the Management of Renal Angiomyolipoma: A Comprehensive Narrative Review of the Literature.

Restrepo J, Millan D, Sabogal C, Bernal A, Donoso W J Kidney Cancer VHL. 2022; 9(1):33-41.

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