Preview

Urology Herald

Advanced search

Tuberous sclerosis with kidneys angiomyolipomas: a family case

https://doi.org/10.21886/2308-6424-2023-11-1-165-170

Abstract

Tuberous sclerosis is one of the forms of monogenic hereditary pathology related to neurocutaneous diseases (phacomatoses). Diagnostic difficulties are associated with pronounced clinical polymorphism and age-dependent onset of symptoms. The article presents current data on the prevalence and clinical manifestations of tuberous sclerosis. A clinical case of tuberous sclerosis is given in several generations of the same family. 

About the Authors

A. A. Keln
Tyumen State Medical University; Multidisciplinary Clinical Medical Center "Medical City"
Russian Federation

Artyom A. Keln — M.D., Cand.Sc.(Med); Assoc.Prof., Dept. of Oncology with a Course in Urology;

Oncourologist, Polyclinic Division,

Tyumen



E. V. Semenova
Tyumen State Medical University
Russian Federation

Ekaterina V. Semenova — M.D., Cand.Sc.(Med); Assoc. Prof., Dept. of Pediatric Diseases, Institute of Motherhood and Childhood,

Tyumen



O. L. Keln
Enterprise group "Mother and Child"
Russian Federation

Olga L. Keln — M.D.; Neurologist, Clinical Hospital, Enterprise group "Mother and Child",

Tyumen



M. S. Shvedskyi
Tyumen State Medical University
Russian Federation

Maxim S. Shvedskyi — Student, Institute of Clinical Medicine,

Tyumen



References

1. Roach ES. Applying the Lessons of Tuberous Sclerosis: The 2015 Hower Award Lecture. Pediatr Neurol. 2016;63:6-22. DOI: 10.1016/j.pediatrneurol.2016.07.003

2. Yevtushenko S.K., Hahara D.A. Tuberous Sclerosis As An Interdisciplinary Problem In Neuropediatrics (Scientific Review And Personal Observations). International neurological journal. 2015;(6):12-22. (In Russian). eLIBRARY ID: 25848748; EDN: TPCEDN

3. Sadowski K, Kotulska K, Schwartz RA, Jóźwiak S. Systemic effects of treatment with mTOR inhibitors in tuberous sclerosis complex: a comprehensive review. J Eur Acad Dermatol Venereol. 2016;30(4):586-94. DOI: 10.1111/jdv.13356

4. DiMario FJ Jr, Sahin M, Ebrahimi-Fakhari D. Tuberous sclerosis complex. Pediatr Clin North Am. 2015;62(3):633-48. DOI: 10.1016/j.pcl.2015.03.005

5. Curatolo P. Tuberous Sclerosis Complex: from basic science to clinical phenotypes. Developmental Medicine & Child Neurology. 2005;47:189-189. DOI: 10.1111/j.1469-8749.2005.tb01114.x

6. O'Callaghan FJ, Shiell AW, Osborne JP, Martyn CN. Prevalence of tuberous sclerosis estimated by capturerecapture analysis. Lancet. 1998;351(9114):1490. DOI: 10.1016/S0140-6736(05)78872-3

7. Keln A, Schmidt S, Alifov DG. Observation of radiopaque renal lesions. Journal of endourology. 2021;35(S1): MP07‐18. DOI: 10.1089/end.2021.35001.abstracts

8. Curatolo P. Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy. Pediatr Neurol. 2015;52(3):281-9. DOI: 10.1016/j.pediatrneurol.2014.10.028

9. Keln A.A., Schmidt S.S., Kupchin A.V., Berdichevsky B.A. Active monitoring of contrast-accumulating kidney tumours. Urology Herald. 2020;8(4):53-61. (In Russian). DOI: 10.21886/2308-6424-2020-8-4-53-61

10. Shelkovskiy V.I., Studenikin V.M., Maslova O.l. Tuberous sclerosis: peculiarities of clinical manifestations, diagnosis and treatment in children. Current pediatrics (Moscow). 2003:2(6):46-52. (In Russian). eLIBRARY ID: 17911322; EDN: PBYUJZ

11. Wataya-Kaneda M, Uemura M, Fujita K, Hirata H, Osuga K, Kagitani-Shimono K, Nonomura N; Tuberous Sclerosis Complex Board of Osaka University Hospital. Tuberous sclerosis complex: Recent advances in manifestations and therapy. Int J Urol. 2017;24(9):681-691. DOI: 10.1111/iju.13390

12. Zapardiel I, Delafuente-Valero J, Bajo-Arenas JM. Renal angiomyolipoma during pregnancy: review of the literature. Gynecol Obstet Invest. 2011;72(4):217-9. DOI: 10.1159/000329328

13. Nese N, Martignoni G, Fletcher CD, Gupta R, Pan CC, Kim H, Ro JY, Hwang IS, Sato K, Bonetti F, Pea M, Amin MB, Hes O, Svec A, Kida M, Vankalakunti M, Berel D, Rogatko A, Gown AM, Amin MB. Pure epithelioid PEComas (socalled epithelioid angiomyolipoma) of the kidney: A clinicopathologic study of 41 cases: detailed assessment of morphology and risk stratification. Am J Surg Pathol. 2011;35(2):161-76. DOI: 10.1097/PAS.0b013e318206f2a9

14. Henske EP. The genetic basis of kidney cancer: why is tuberous sclerosis complex often overlooked? Curr Mol Med. 2004;4(8):825-31. DOI: 10.2174/1566524043359610

15. Yang P, Cornejo KM, Sadow PM, Cheng L, Wang M, Xiao Y, Jiang Z, Oliva E, Jozwiak S, Nussbaum RL, Feldman AS, Paul E, Thiele EA, Yu JJ, Henske EP, Kwiatkowski DJ, Young RH, Wu CL. Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol. 2014;38(7):895-909. DOI: 10.1097/PAS.0000000000000237

16. Jimenez RE, Eble JN, Reuter VE, Epstein JI, Folpe AL, de Peralta-Venturina M, Tamboli P, Ansell ID, Grignon DJ, Young RH, Amin MB. Concurrent angiomyolipoma and renal cell neoplasia: a study of 36 cases. Mod Pathol. 2001;14(3):157-63. DOI: 10.1038/modpathol.3880275


Review

For citations:


Keln A.A., Semenova E.V., Keln O.L., Shvedskyi M.S. Tuberous sclerosis with kidneys angiomyolipomas: a family case. Urology Herald. 2023;11(1):165-170. (In Russ.) https://doi.org/10.21886/2308-6424-2023-11-1-165-170

Views: 2249


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2308-6424 (Online)