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Association of multiple retinal nodular hamartomas and "confetti" skin lesions with end-stage renal disease in patients with tuberous sclerosis

  • Nephrology - Original Paper
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Abstract

Purpose

The main purpose of this study is to explore characteristics of patients with chronic kidney disease in tuberous sclerosis (TSC) and to underline differences in clinical characteristics between end-stage renal disease (ESRD) patients and patients in earlier stages of chronic kidney disease.

Methods

This multicentric, retrospective study included data for 48 patients from seven South-Eastern European countries (Albania, Bosnia and Herzegovina, Croatia, Greece, Montenegro, Serbia, Slovenia) in the period from February to August 2020. Researchers collected data from local and national nephrological and neurological registries and offered clinical and laboratory results from medical histories in follow-up periods.

Results

This study enrolled 48 patients with a median age of 32.3 years (range, 18–46 years), and predominant female gender (60.45%). The percentage of patients with chronic kidney disease (CKD) diagnosis of the total number of patients was 66.90%, with end-stage renal disease development in 39.6%. The most prevalent renal lesions leading to chronic kidney disease were angiomyolipomas (AMLs) in 76.6%, while multiple renal cysts were present in 42.6% of patients. Nephrectomy was performed in 43% of patients, while the mTOR inhibitors were used in 18 patients (37.5%). The majority of patients had cutaneous manifestations of tuberous sclerosis—83.30% had hypomelanotic cutaneous lesions, and 68.80% had angiofibromas. Multiple retinal nodular hamartomas and "confetti" skin lesions were more frequent in end-stage renal disease (ESRD) than in patients with earlier stages of chronic kidney disease (p-0.033 and 0.03, respectively).

Conclusion

Our study has also shown that retinal hamartomas and "confetti" skin lesions are more frequent in end-stage renal diseases (ESRD) patients than in other chronic kidney disease (CKD) patients. Usage of mTOR inhibitors can also reduce the number of complications and associated with tuberous sclerosis, such as dermatological manifestations and retinal hamartoma, which are more common in the terminal stage of chronic kidney disease.

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Funding

This study was not funded by grant.

Author information

Authors and Affiliations

  1. Department of Nephrology, Clinical Center of Montenegro, Ljubljanska bb, 81000, Podgorica, Montenegro

    Vladimir Prelevic & Danilo Radunovic

  2. Department of Nephrology, Arterial Hypertension, Dialysis and Kidney Transplantation, University Hospital Center Zagreb, Zagreb, Croatia

    Ivana Juric & Nikolina Basic- Jukic

  3. Department of Nephrology and Clinic for pediatrics, University Medical Center Maribor, Maribor, Slovenia

    Sebastijan Bevc & Natasa Marcun-Varda

  4. Department of Nephrology and Hemodialysis, University Clinical Center Tuzla, Tuzla, Bosnia and Herzegovina

    Mirna Aleckovic-Halilovic & Enisa Mesic

  5. Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia

    Hrvoje Bilic

  6. Department of Nephrology with Plasmapheresis, University Clinical Center of the Republic of Srpska, Republic of Srpska, Banja Luka, Bosnia and Herzegovina

    Milorad Grujicic

  7. Department of Nephrology, General Hospital Koprivnica, Koprivnica, Croatia

    Igor Zabic

  8. Department of Nephrology, University Hospital Clinical Center “Sestre Milosrdnice”, Zagreb, Croatia

    Josipa Josipovic

  9. Department of Nephrology, Clinical Hospital Center Rijeka, Rijeka, Croatia

    Bozidar Vujicic

  10. Department of Nephrology, Laiko University General Hospital, Athens, Greece

    Smaragdi Marinaki

  11. General Hospital “MediGroup”, Belgrade, Serbia

    Sanja Simic-Ogrizovic

  12. Clinic of Nephrology, Clinical Center of Serbia, Belgrade, Serbia

    Marija Milinkovic

  13. Clinic of Nephrology and Clinical Immunology, Clinical Center Vojvodina, Novi Sad, Serbia

    Tijana Azasevac

  14. Department of Nephrology, University Hospital Center Tirana, Tirana, Albania

    Alma Idrizi

  15. Department of Nephrology, University Medical Center Ljubljana, Ljubljana, Slovenia

    Miha Arnol

  16. Center for Laboratory Diagnostic, Clinical Center of Montenegro, Podgorica, Montenegro

    Tanja Antunovic

Authors
  1. Vladimir Prelevic
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  2. Ivana Juric
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  3. Sebastijan Bevc
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  4. Natasa Marcun-Varda
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  5. Mirna Aleckovic-Halilovic
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  6. Enisa Mesic
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  7. Hrvoje Bilic
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  8. Milorad Grujicic
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  9. Igor Zabic
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  10. Josipa Josipovic
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  11. Bozidar Vujicic
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  12. Smaragdi Marinaki
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  13. Sanja Simic-Ogrizovic
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  14. Marija Milinkovic
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  15. Tijana Azasevac
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  16. Alma Idrizi
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  17. Miha Arnol
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  18. Danilo Radunovic
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  19. Tanja Antunovic
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  20. Nikolina Basic- Jukic
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Corresponding author

Correspondence to Vladimir Prelevic.

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All authors declare that they have no conflict of interests.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Prelevic, V., Juric, I., Bevc, S. et al. Association of multiple retinal nodular hamartomas and "confetti" skin lesions with end-stage renal disease in patients with tuberous sclerosis. Int Urol Nephrol 55, 477–482 (2023). https://doi.org/10.1007/s11255-022-03352-9

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  • DOI: https://doi.org/10.1007/s11255-022-03352-9

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