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Kidney Week

Abstract: FR-PO976

Renal Involvement in Tuberous Sclerosis Complex

Session Information

Category: Genetic Diseases of the Kidney

  • 1001 Genetic Diseases of the Kidney: Cystic

Authors

  • Cerkauskaite, Agne, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Lithuania, Vilnius, Lithuania
  • Miglinas, Marius, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Lithuania, Vilnius, Lithuania
  • Jonuskaite, Dovile, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Lithuania, Vilnius, Lithuania
  • Patasius, Ausvydas, National Cancer Institute, Faculty of Medicine, Vilnius University, Lithuania, Vilnius, Lithuania
  • Jankauskiene, Augustina, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Lithuania, Vilnius, Lithuania
  • Cerkauskiene, Rimante, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Lithuania, Vilnius, Lithuania
Background

Tuberous sclerosis complex (TSC) is a rare, genetic disorder caused by alterations in tumor suppresor proteins such as hamartin or tuberin leading to uncontrolled activity of the mTOR pathway and, consequently, to the development of the tumors, known as hemartomas. TSC manifestation is multisystemic including renal, cardiac, pulmonologic, neurological, cutaneous lesions and can differ depending on disease related genetic variants. Mutations of at least two different genes, the TSC1 gene or the TSC2 gene, are known to cause TSC. We analyzed clinically or genetically diagnosed TSC with different TSC gene mutations and disease manifestations, focusing on renal findings: renal cysts (RC), angiomyolipomas (AML) or renocellular carcinoma (RCC).

Methods

A retrospective data analysis of the clinical and radiographic (CT or MRI) records of the patients with TSC was made.

Results

25 patients (14 children and 11 adults), 13 females and 12 males were included. Diagnosis was genetically confirmed in 56% patients, with TSC2 and TSC1 genes 64,3%, 35,7% respectively. All patients had more than one organ involvement. Renal lesions were seen in 72 % of patients with an average age at diagnosis 25,3 years ( 2 – 60 y). AML occurred in 72,2%, bilateral RC - in 44,44%, while no RCC was observed. Both cysts and AML were significantly more frequent and more numerous in TSC2 comparing with TSC1. Bilateral renal cysts were presented in 50% of all AML cases. TSC2 gene mutation was not more common in patients with combination of AML and renal cysts than in those with AML as would be expected. Two patients with bilateral AML underwent nephrectomy before systemic disease was suspected. Disease progression correlated with the age (p<0.05). Everolimus was introduced in 4 patients, 1 of them had TSC, 2 patients had TSC2 mutations and 1 was not genetically confirmed. Response to the treatment was successful in 89% at 6 months period and did not differ between different mutation types (p<0.01).

Conclusion

Renal involvement is high and significantly associated with genotype, TSC2 mutation has more severe manifestation. Everolimus showed effectiveness in reducing angiomyolipoma in all types of mutations.