PMID- 33816078
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210406
IS  - 1311-0160 (Print)
IS  - 2199-5761 (Electronic)
IS  - 1311-0160 (Linking)
VI  - 23
IP  - 2
DP  - 2020 Nov
TI  - Bilateral Renal Angiomyolipomas and Subependymal Giant Cell Astrocytoma 
      Associated with Tuberous Sclerosis Complex: a Case Report and Review of The 
      Literature.
PG  - 93-98
LID - 10.2478/bjmg-2020-0017 [doi]
AB  - Tuberous sclerosis complex (TSC) is an autosomal-dominant 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.
CI  - (c) 2020 Rambabova Bushljetik I, Lazareska M, Barbov I, Stankov O, Filipce V, 
      Spasovski G, published by Sciendo.
FAU - Rambabova Bushljetik, I
AU  - Rambabova Bushljetik I
AD  - University Clinic of Nephrology, Skopje, Republic of North Macedonia.
FAU - Lazareska, M
AU  - Lazareska M
AD  - Institute of Radiology, Skopje, Republic of North Macedonia.
FAU - Barbov, I
AU  - Barbov I
AD  - University Clinic of Neurology, Skopje, Republic of North Macedonia.
FAU - Stankov, O
AU  - Stankov O
AD  - University Clinic of Urology, Skopje, Republic of North Macedonia.
FAU - Filipce, V
AU  - Filipce V
AD  - University Clinic of Neurosurgery, Skopje, Republic of North Macedonia.
FAU - Spasovski, G
AU  - Spasovski G
AD  - University Clinic of Nephrology, Skopje, Republic of North Macedonia.
LA  - eng
PT  - Journal Article
DEP - 20210323
PL  - Poland
TA  - Balkan J Med Genet
JT  - Balkan journal of medical genetics : BJMG
JID - 9806959
PMC - PMC8009567
OTO - NOTNLM
OT  - Angiomyolipoma (AML)
OT  - Everolimus (EVE)
OT  - Subependymal giant cell astrocytoma (SEGA)
OT  - Tuberous sclerosis complex (TSC)
EDAT- 2021/04/06 06:00
MHDA- 2021/04/06 06:01
PMCR- 2021/03/23
CRDT- 2021/04/05 06:06
PHST- 2021/04/05 06:06 [entrez]
PHST- 2021/04/06 06:00 [pubmed]
PHST- 2021/04/06 06:01 [medline]
PHST- 2021/03/23 00:00 [pmc-release]
AID - bjmg-2020-0017 [pii]
AID - 10.2478/bjmg-2020-0017 [doi]
PST - epublish
SO  - Balkan J Med Genet. 2021 Mar 23;23(2):93-98. doi: 10.2478/bjmg-2020-0017. 
      eCollection 2020 Nov.