BILATERAL RENAL ANGIOMYOLIPOMAS AND
SUBEPENDYMAL GIANT CELL ASTROCYTOMA
ASSOCIATED WITH TUBEROUS SCLEROSIS COMPLEX:
A CASE REPORT AND REVIEW OF THE LITERATURE
Rambabova Bushljetik I, Lazareska M, Barbov I, Stankov O, Filipce V, Spasovski G
*Corresponding Author: Rambabova Bushljetik I, M.D., Ph.D., University Clinic of Nephrology,
Vodnjanska 17, 1000 Skopje, Republic of North Macedonia. Tel.: +389-214-7191. Mobile: +389-72-
216-581. Fax: +389-231-1188. E-mail: irambabova@yahoo.com
page: 93
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Abstract
Tuberous sclerosis complex (TSC) is an autosomaldominant
multi system disorder. The genetic basis of the
disorder is mutations in the TSC1 or TSC2 gene, which
leads to over activation of the mammalian target of rapamycin
(mTOR) protein complex and results in development
of benign tumors in different body systems such as
brain, skin, lungs and kidney. The mTOR inhibitors are
presently the main treatment option for patients with TSC.
We here report a 21-year female patient with large bilateral
angiomyolipoma (AML) in both kidneys with longest
diameter more than 12.3 cm and subependymal giant cell
astrocytoma (SEGA). Treatment with everolimus (EVE)
was initiated at a dose of 10.0 mg/day and continued during
the following 3 years. Magnetic resonance imaging
(MRI) was performed before treatment with everolimus
was initiated, and consequently at 12 and 36 months for
follow-up of the efficacy of the treatment. After 3 years,
the total size of largest AML decreased by ~24.0% in the
longest diameter. A reduction of the total size of SEGA was
also observed. The most common adverse effect of treatment
was stomatitis grades 3 to 4 and one febrile episode
associated with skin rash that required a reduced dose of
EVE. In conclusion, the everolimus treatment improved
even such a large renal AML and the effect persisted during
the long-term administration with a small number of
adverse effects. A positive effect was observed on the brain
tumor as well.
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