Login Register Cart 0
Generic placeholder image

Current Reviews in Clinical and Experimental Pharmacology

Editor-in-Chief

ISSN (Print): 2772-4328
ISSN (Online): 2772-4336

Back
Journal Home About Journal Editorial Board Current Issue Volumes/Issues
Subscribe
Case Report

A Case Report of Tuberous Sclerosis and Autosomal Dominant Polycystic Kidney Disease in the Era of Tolvaptan

Author(s): Xavier E. Guerra-Torres*

Volume 18, Issue 3, 2023

Published on: 22 August, 2022

Page: [284 - 290] Pages: 7

DOI: 10.2174/2772432817666220517162012

Price: $65

Abstract

Background: Autosomal dominant polycystic kidney disease (ADPKD) may coexist with other genetic disorders, such as tuberous sclerosis, when deletion in TSC2/PKD1 genes occurs. Recently, the effect of tolvaptan has been explored in ADPKD patients alone, but its safety and efficacy on TSC2/PKD1 contiguous gene syndrome are unknown.

Case Presentation: This report describes the case of an asymptomatic patient with TSC2/PKD1 contiguous gene syndrome that fulfills the imaging criteria for initiating the treatment with tolvaptan. After twelve months, the patient did not exhibit severe adverse effects and blood pressure control improved.

Conclusion: In this TSC2/PKD1 contiguous gene syndrome single case report, tolvaptan was safe and well-tolerated. More extensive experimental studies are needed to deeply understand the therapeutic implications of vasopressin V2-receptor inhibition in the TSC2/PKD1 contiguous gene syndrome patients.

Keywords: Autosomal dominant polycystic kidney disease, tuberous sclerosis, tuberous sclerosis complex, TSC2/PKD1 contiguous gene syndrome, tolvaptan, vasopressin antagonist.

« Previous Next »
Graphical Abstract

[1]
Ars E, Bernis C, Fraga G, et al. Spanish guidelines for the management of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 2014; 29 (Suppl. 4): iv95-iv105.
[http://dx.doi.org/10.1093/ndt/gfu186] [PMID: 25165191]
[2]
Iglesias CG, Torres VE, Offord KP, Holley KE, Beard CM, Kurland LT. Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota: 1935-1980. Am J Kidney Dis 1983; 2(6): 630-9.
[http://dx.doi.org/10.1016/S0272-6386(83)80044-4] [PMID: 6846334]
[3]
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 1994; 77(6): 881-94.
[http://dx.doi.org/10.1016/0092-8674(94)90137-6] [PMID: 8004675]
[4]
Ma M, Tian X, Igarashi P, Pazour GJ, Somlo S. Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease. Nat Genet 2013; 45(9): 1004-12.
[http://dx.doi.org/10.1038/ng.2715] [PMID: 23892607]
[5]
Porath B, Gainullin VG, Cornec-Le , et al. Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease. Am J Hum Genet 2016; 98(6): 1193-207.
[http://dx.doi.org/10.1016/j.ajhg.2016.05.004] [PMID: 27259053]
[6]
Mochizuki T, Wu G, Hayashi T, et al. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996; 272(5266): 1339-42.
[http://dx.doi.org/10.1126/science.272.5266.1339] [PMID: 8650545]
[7]
Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008; 372(9639): 657-68.
[http://dx.doi.org/10.1016/S0140-6736(08)61279-9] [PMID: 18722871]
[8]
Portocarrero LKL, Quental KN, Samorano LP, Oliveira ZNP, Rivitti-Machado MCDM. Tuberous sclerosis complex: Review based on new diagnostic criteria. An Bras Dermatol 2018; 93(3): 323-31.
[http://dx.doi.org/10.1590/abd1806-4841.20186972] [PMID: 29924239]
[9]
Dixon BP, Hulbert JC, Bissler JJ. Tuberous sclerosis complex renal disease. Nephron, Exp Nephrol 2011; 118(1): e15-20.
[http://dx.doi.org/10.1159/000320891] [PMID: 21071977]
[10]
De Waele L, Lagae L, Mekahli D. Tuberous sclerosis complex: The past and the future. Pediatr Nephrol 2015; 30(10): 1771-80.
[http://dx.doi.org/10.1007/s00467-014-3027-9] [PMID: 25533384]
[11]
Robert A, Leroy V, Riquet A, Gogneaux L, Boutry N, Avni FE. Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions. Radiol Med (Torino) 2016; 121(5): 402-8.
[http://dx.doi.org/10.1007/s11547-015-0572-7] [PMID: 26219723]
[12]
Torres VE, Chapman AB, Devuyst O, et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med 2012; 367(25): 2407-18.
[http://dx.doi.org/10.1056/NEJMoa1205511] [PMID: 23121377]
[13]
Torres VE, Chapman AB, Devuyst O, et al. Tolvaptan in later-stage autosomal dominant polycystic kidney disease. N Engl J Med 2017; 377(20): 1930-42.
[http://dx.doi.org/10.1056/NEJMoa1710030] [PMID: 29105594]
[14]
Irazabal MV, Rangel LJ, Bergstralh EJ, et al. Imaging classification of autosomal dominant polycystic kidney disease: A simple model for selecting patients for clinical trials. J Am Soc Nephrol 2015; 26(1): 160-72.
[http://dx.doi.org/10.1681/ASN.2013101138] [PMID: 24904092]
[15]
Longa L, Scolari F, Brusco A, et al. A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 1997; 12(9): 1900-7.
[http://dx.doi.org/10.1093/ndt/12.9.1900] [PMID: 9306341]
[16]
Mancino C, Balducci A. Tuberous sclerosis complex and early-onset autosomal dominant polycystic kidney disease as a ‘contiguous gene’ syndrome: Report of a case. Contrib Nephrol 1997; 122: 96-7.
[17]
Dhakal M, Dhakal OP, Bhandari D. Polycystic kidney disease and chronic renal failure in tuberous sclerosis. Case Rep 2013; 2013(oct021): bcr2013200711.
[18]
Bisceglia M, Galliani C, Carosi I, Simeone A, Ben-Dor D. Tuberous sclerosis complex with polycystic kidney disease of the adult type: The TSC2/ADPKD1 contiguous gene syndrome. Int J Surg Pathol 2008; 16(4): 375-85.
[http://dx.doi.org/10.1177/1066896908319578] [PMID: 18611938]
[19]
Santos SF, Francisco T, Cordeiro AI, Lopes MJP. Beyond polycystic kidney disease. BMJ Case Rep 2017; 2017: bcr-2017-220766.
[http://dx.doi.org/10.1136/bcr-2017-220766] [PMID: 28978585]
[20]
Culty T, Molinie V, Lebret T, et al. TSC2/PKD1 contiguous gene syndrome in an adult. Minerva Urol Nefrol 2006; 58(4): 351-4.
[PMID: 17268401]
[21]
Mayo Foundation and Medical Education and Research. Classification of Typical ADPKD Calculator Available from: https://www.mayo.edu/research/documents/pkd-center-adpkd-classification/doc-20094754 Accessed on Apr 14, 2021.
[22]
Müller R-U, Benzing T. Cystic kidney diseases from the adult nephrologist’s point of view. Front Pediatr 2018; 6: 65.
[http://dx.doi.org/10.3389/fped.2018.00065] [PMID: 29623269]
[23]
Rakowski SK, Winterkorn EB, Paul E, Steele DJR, Halpern EF, Thiele EA. Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors. Kidney Int 2006; 70(10): 1777-82.
[http://dx.doi.org/10.1038/sj.ki.5001853] [PMID: 17003820]
[24]
Sampson JR, Maheshwar MM, Aspinwall R, et al. Renal cystic disease in tuberous sclerosis: Role of the polycystic kidney disease 1 gene. Am J Hum Genet 1997; 61(4): 843-51.
[http://dx.doi.org/10.1086/514888] [PMID: 9382094]
[25]
Hartman TR, Liu D, Zilfou JT, et al. The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. Hum Mol Genet 2009; 18(1): 151-63.
[http://dx.doi.org/10.1093/hmg/ddn325] [PMID: 18845692]
[26]
Bonnet CS, Aldred M, von Ruhland C, Harris R, Sandford R, Cheadle JP. Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. Hum Mol Genet 2009; 18(12): 2166-76.
[http://dx.doi.org/10.1093/hmg/ddp149] [PMID: 19321600]
[27]
Cabrera-López C, Bullich G, Martí T, et al. Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated. BMC Med Genet 2015; 16(1): 39.
[http://dx.doi.org/10.1186/s12881-015-0185-y] [PMID: 26077033]
[28]
Dere R, Wilson PD, Sandford RN, Walker CL. Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR. PLoS One 2010; 5(2): e9239.
[http://dx.doi.org/10.1371/journal.pone.0009239] [PMID: 20169078]

Rights & Permissions Print Cite
Article Metrics
4
© 2024 Bentham Science Publishers | Privacy Policy