ASN's Mission

ASN leads the fight to prevent, treat, and cure kidney diseases throughout the world by educating health professionals and scientists, advancing research and innovation, communicating new knowledge, and advocating for the highest quality care for patients.

learn more

Contact ASN

1401 H St, NW, Ste 900, Washington, DC 20005

email@asn-online.org

202-640-4660

The Latest on Twitter

Kidney Week

Abstract: FR-PO975

Manifestations of Renal Disease in Adult Patients with Tuberous Sclerosis Complex–Reference Center Experience

Session Information

Category: Genetic Diseases of the Kidney

  • 1001 Genetic Diseases of the Kidney: Cystic

Authors

  • Tarasewicz, Agnieszka, Medical University of Gdansk, Gdansk, Poland
  • Debska-Slizien, Alicja, Medical University of Gdansk, Gdansk, Poland
  • Rutkowska, Beata, Medical University of Gdansk, Gdansk, Poland
  • Szurowska, Edyta, Medical University of Gdansk, Gdansk, Poland
  • Marcinkowska, Anna Barbara, Medical University of Gdansk, Gdansk, Poland
  • Matuszewski, Marcin, Medical University of Gdansk, Gdansk, Poland
Background

Renal involvement is a considerable cause of mortality and morbidity in tuberous sclerosis complex (TSC) patients and include angiomyolipomas (AMLs), cysts and malignant tumors. Surgical treatment of life-threatening bleeding from AMLs additionally impairs kidney function, while treatment with mammalian target of rapamycin inhibitor (mTORI) is effective in preventing bleeding complications and preserving renal function. However, data concerning proteinuria, albuminuria and hypertension in TSC patients, as possibly modifiable risk factors of chronic kidney failure (CKF) is limited.

Methods

The initial assessment was performed in 32 TSC patients admitted to reference academic TSC center from 03/2016 to 01/2018. Study group consisted of 15 men and 17 women in the mean age of 32±11.6 yrs. Prevalence of renal manifestations, CKF, hypertension, proteinuria (urinary protein-to-creatinine ratio;uPCR) and albuminuria (urinary albumin-to-creatinine ratio;uACR) were studied.

Results

TSC renal manifestations were: AMLs (29/32; 91%), cysts (17/32; 53%) and renal cell carcinoma (1/32; 3%). 25% patients were previously nephrectomised due to complications related to AMLs. eGFR<60 mL/min was found in 19% individuals. The incidence of proteinuria (uPCR>150mg/g), albuminuria (uACR>30mg/g) and hypertension were 41%, 44% and 34%, respectively. TSC patients after nephrectomy in comparison with non-nephrectomised patients had statistically significant decline of kidney function-higher creatinine level (1.48±0.52mg/dL vs 0.97±0.63mg/dL) and lower eGFR (52.5±21.4mL/min vs 93.67±30.91mL/min) and also higher albuminuria (uACR 346.7±677.6mg/g vs 49.41±90.27mg/g);(p<0.05). The differences in prevalence of hypertension (50% in patients after nephrectomy vs 29% in non-nephrectomised;p=0.397) and quantity of proteinuria (uPCR 579.3±1003.2mg/g vs 263.8±516.7mg/g;p=0.25) were insignificant.

Conclusion

The incidence of renal manifestations was consistent with previous reports. Adult TSC patients have relatively high prevalence of CKF as well as its potentially modifiable risk factors, hypertension, proteinuria, albuminuria. The previous nephrectomy seems to have a significant impact on kidney function, that supports the invaluable role of pre-emptive treatment of AMLs with mTORI to prevent need of surgery.