Angiomyolipomas of kidneys in children with tuberous sclerosis — current state of the problem
S.L. MOROZOV1,2, O.R. PIRUZIEVA1, M.YU. DOROFEEVA1, O.V. TARASOVA2, V.V. DLIN1
1Veltischev Research and Clinical Institute for Pediatrics, Moscow
2Pirogov Russian National Research Medical University, Moscow
Contact details:
Morozov S.L. — PhD (medicine), Leading Researcher of the Department of Hereditary and Acquired Kidney Diseases named after M.S. Ignatova, Associate Professor of the Department of Hospital Therapy No. 2 of the Pediatrics Faculty
Address: 2 Taldomskaya St., Moscow, Russian Federation, 125412, tel.: +7-903-138-77-32, e-mail: mser@list.ru
Tuberous sclerosis is a rare multisystem disease with autosomal dominant inheritance, characterized by the formation of hamartomas in many organs and tissues, including skin, brain, kidneys, lungs and heart, with a variety of clinical manifestations. One of the largest problems in patients with tuberous sclerosis is renal angiomyolipomas, which are the most common manifestation of the disease. An important point in the course of tuberous sclerosis with kidney damage is the formation of secondary complications that occur against the background of the underlying disease. The present review shows the relevance of the problem of angiomyolipomas in tuberous sclerosis, considers the pathogenesis of the disease, and presents the basic principles of treatment.
Key words: children, tuberous sclerosis, angiomyolipomas, vascular tumor, rapamycin, everalimus.
REFERENCES
- Uysal S.P., Şahin M. Tuberous sclerosis: a review of the past, present, and future. Turk J Med Sci, 2020, vol. 50 (SI-2), pp. 1665–1676. DOI:10.3906/sag-2002-133
- Morozov S.L., Piruzieva O.R., Dlin V.V. Effectiveness of targeted therapy for kidney damage in tuberous sclerosis in a child (clinical case). Nefrologiya, 2021, no. 25 (4), pp. 90–94 (in Russ.). doi: 10.36485/1561-6274-2021-25-4-90-94
- Kingswood J.C., Belousova E., Benedik M.P., Carter T., Cottin V., Curatolo P. et al. Renal Manifestations of Tuberous Sclerosis Complex: Key Findings from the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas. Front Neurol, 2020, vol. 11, p. 972. DOI: 10.3389/fneur.2020.00972
- Ebrahimi-Fakhari D., Mann L.L., Poryo M., Graf N., von Kries R., Heinrich B. et al. Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. Orphanet J Rare Dis, 2018, vol. 13 (1), p. 117. DOI: 10.1186/s13023-018-0870-y
- Zoncu R., Bar-Peled L., Efeyan A., Wang S., Sancak Y., Sabatini D.M. mTORC1 senses lysosomal amino acids through an inside-out mechanism that requires the vacuolar H(+)-ATPase. Science, 2011, vol. 334 (6056), pp. 678–683. DOI: 10.1126/science.1207056
- Dixon B.P., Hulbert J.C., Bissler J.J. Tuberous sclerosis complex renal disease. Nephron Exp Nephrol, 2011, vol. 118 (1), pp. e15–20. doi: 10.1159/000320891
- Kobayashi T., Hirayama Y., Kobayashi E., Kubo Y., Hino O. A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer. Nat Genet, 1995, vol. 9 (1), pp. 70–74. DOI: 10.1038/ng0195-70
- Au K.S., Williams A.T., Roach E.S., Batchelor L., Sparagana S.P., Delgado M.R. et al. Genotype / phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med, 2007, vol. 9 (2), pp. 88–100. DOI: 10.1097/gim.0b013e31803068c7
- Crino P.B. mTOR: A pathogenic signaling pathway in developmental brain malformations. Trends Mol Med, 2011, vol. 17 (12), pp. 734–742. DOI: 10.1016/j.molmed.2011.07.008
- Zhang Y., Gao X., Saucedo L.J., Ru B., Edgar B.A., Pan D. Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins. Nat Cell Biol, 2003, vol. 5 (6), pp. 578–581. DOI: 10.1038/ncb999
- Guertin D.A., Sabatini D.M. Defining the role of mTOR in cancer. Cancer Cell, 2007, vol. 12 (1), pp. 9–22. DOI: 10.1016/j.ccr.2007.05.008
- Yang H., Rudge D.G., Koos J.D., Vaidialingam B., Yang H.J., Pavletich N.P. mTOR kinase structure, mechanism and regulation. Nature, 2013, vol. 497 (7448), pp. 217–223. DOI: 10.1038/nature12122
- Zderkiewicz W. Functional value of the injured hand. Chir Narzadow Ruchu Ortop Pol., 1967, vol. 32 (3), pp. 321–327.
- Piruzieva O.R. The structure of kidney pathology in children with tuberous sclerosis. Rossiyskiy vestnik perinatologii i pediatrii, 2020, no. 65 (4), pp. 280 (in Russ.).
- Kingswood J.C., Belousova E., Benedik M.P., Carter T., Cottin V., Curatolo P. et al. Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. Nephrol Dial Transplant, 2019, vol. 34 (3), pp. 502–508. DOI: 10.1093/ndt/gfy063
- Budde K., Gaedeke J. Tuberous sclerosis complex-associated angiomyolipomas: focus on mTOR inhibition. Am J Kidney Dis, 2012, vol. 59 (2), pp. 276–283. DOI: 10.1053/j.ajkd.2011.10.013
- Dorofeeva M.Yu. Tuberoznyy skleroz [Tuberous sclerosis]. Moscow: ADARE; 2017.
- Janssens P., Van Hoeve K., De Waele L., De Rechter S., Claes K.J., Van de Perre E. et al. Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study. Pediatr Nephrol, 2018, vol. 33 (11), pp. 2085–2093. DOI: 10.1007/s00467-018-4003-6
- Siroky B.J., Yin H., Bissler J.J. Clinical and molecular insights into tuberous sclerosis complex renal disease. Pediatr Nephrol, 2011, vol. 26 (6), pp. 839–852. DOI: 10.1007/s00467-010-1689-5
- Nelson C.P., Sanda M.G. Contemporary diagnosis and management of renal angiomyolipoma. J Urol, 2002, vol. 168 (4 Pt 1), pp. 1315–1325. DOI: 10.1097/01.ju.0000028200.86216.b2
- Sooriakumaran P., Gibbs P., Coughlin G., Attard V., Elmslie F., Kingswood C. et al. Angiomyolipomata: challenges, solutions, and future prospects based on over 100 cases treated. BJU Int, 2010, vol. 105 (1), pp. 101–106. doi: 10.1111/j.1464-410X.2009.08649.x
- Krueger D.A., Northrup H. International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol, 2013, vol. 49 (4), pp. 255–265. doi: 10.1016/j.pediatrneurol.2013.08.002