Vladimir Prelevic1, Ivana Juric2, Sebastijan Bevc3, Natasa Marcun-Varda3, Mirna Aleckovic-Halilovic4, Enisa Mesic4, Hrvoje Bilic5, Milorad Grujicic6, Igor Zabic7, Josipa Josipovic8, Bozidar Vujicic9, Smaragdi Marinaki10, Sanja Simic-Ogrizovic11, Marija Milinkovic12, Tijana Azasevac13, Alma Idrizi14, Miha Arnol15, Danilo Radunovic16, Tanja Antunovic17, Nikolina Basic- Jukic2. 1. Department of Nephrology, Clinical Center of Montenegro, Ljubljanska bb, 81000, Podgorica, Montenegro. vladimir.scopheurope@gmail.com. 2. Department of Nephrology, Arterial Hypertension, Dialysis and Kidney Transplantation, University Hospital Center Zagreb, Zagreb, Croatia. 3. Department of Nephrology and Clinic for pediatrics, University Medical Center Maribor, Maribor, Slovenia. 4. Department of Nephrology and Hemodialysis, University Clinical Center Tuzla, Tuzla, Bosnia and Herzegovina. 5. Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia. 6. Department of Nephrology with Plasmapheresis, University Clinical Center of the Republic of Srpska, Republic of Srpska, Banja Luka, Bosnia and Herzegovina. 7. Department of Nephrology, General Hospital Koprivnica, Koprivnica, Croatia. 8. Department of Nephrology, University Hospital Clinical Center "Sestre Milosrdnice", Zagreb, Croatia. 9. Department of Nephrology, Clinical Hospital Center Rijeka, Rijeka, Croatia. 10. Department of Nephrology, Laiko University General Hospital, Athens, Greece. 11. General Hospital "MediGroup", Belgrade, Serbia. 12. Clinic of Nephrology, Clinical Center of Serbia, Belgrade, Serbia. 13. Clinic of Nephrology and Clinical Immunology, Clinical Center Vojvodina, Novi Sad, Serbia. 14. Department of Nephrology, University Hospital Center Tirana, Tirana, Albania. 15. Department of Nephrology, University Medical Center Ljubljana, Ljubljana, Slovenia. 16. Department of Nephrology, Clinical Center of Montenegro, Ljubljanska bb, 81000, Podgorica, Montenegro. 17. Center for Laboratory Diagnostic, Clinical Center of Montenegro, Podgorica, Montenegro.
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.
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.
Authors: John J Bissler; Klemens Budde; Matthias Sauter; David N Franz; Bernard A Zonnenberg; Michael D Frost; Elena Belousova; Noah Berkowitz; Antonia Ridolfi; J Christopher Kingswood Journal: Nephrol Dial Transplant Date: 2019-06-01 Impact factor: 5.992
Authors: John C Kingswood; Guillaume B d'Augères; Elena Belousova; José C Ferreira; Tom Carter; Ramon Castellana; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Petrus J de Vries; Martha Feucht; Carla Fladrowski; Gabriella Gislimberti; Christoph Hertzberg; Sergiusz Jozwiak; John A Lawson; Alfons Macaya; Rima Nabbout; Finbar O'Callaghan; Mirjana P Benedik; Jiong Qin; Ruben Marques; Valentin Sander; Matthias Sauter; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; Anna C Jansen Journal: Orphanet J Rare Dis Date: 2017-01-05 Impact factor: 4.123
Authors: Johann Philipp Zöllner; David Neal Franz; Christoph Hertzberg; Rima Nabbout; Felix Rosenow; Matthias Sauter; Susanne Schubert-Bast; Adelheid Wiemer-Kruel; Adam Strzelczyk Journal: Orphanet J Rare Dis Date: 2020-01-21 Impact factor: 4.123