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. 1996 Jun;33(6):480–484. doi: 10.1136/jmg.33.6.480

A cross sectional study of renal involvement in tuberous sclerosis.

J A Cook 1, K Oliver 1, R F Mueller 1, J Sampson 1
PMCID: PMC1050634  PMID: 8782048

Abstract

Renal disease is a frequent manifestation of tuberous sclerosis (TSC) and yet little is known about its true prevalence or natural history. We reviewed the notes of 139 people with TSC, who had presented without renal symptoms, but who had been investigated by renal ultrasound. Information on the frequency, type, and symptomatology of renal involvement was retrieved. The prevalence of renal involvement was 61%. Angiomyolipomas were detected in 49%, renal cysts in 32%, and renal carcinoma in 2.2%. The prevalence of angiomyolipoma was positively correlated with age, compatible with a two hit aetiology. Renal cysts were the commoner lesion in young children, and their prevalence did not appear to be age related. Renal investigation in people with TSC had been inconsistent and limited. We suggest guidelines for renal investigation in those with TSC.

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Selected References

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  1. Balligand J. L., Pirson Y., Squifflet J. P., Cosyns J. P., Alexandre G. P., van Ypersele de Strihou C. Outcome of patients with tuberous sclerosis after renal transplantation. Transplantation. 1990 Mar;49(3):515–518. doi: 10.1097/00007890-199003000-00008. [DOI] [PubMed] [Google Scholar]
  2. Blethyn J., Jones A., Sullivan B. Prenatal diagnosis of unilateral renal disease in tuberous sclerosis. Br J Radiol. 1991 Feb;64(758):161–164. doi: 10.1259/0007-1285-64-758-161. [DOI] [PubMed] [Google Scholar]
  3. Brook-Carter P. T., Peral B., Ward C. J., Thompson P., Hughes J., Maheshwar M. M., Nellist M., Gamble V., Harris P. C., Sampson J. R. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Nat Genet. 1994 Dec;8(4):328–332. doi: 10.1038/ng1294-328. [DOI] [PubMed] [Google Scholar]
  4. Green A. J., Smith M., Yates J. R. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet. 1994 Feb;6(2):193–196. doi: 10.1038/ng0294-193. [DOI] [PubMed] [Google Scholar]
  5. McCullough D. L., Scott R., Jr, Seybold H. M. Renal angiomyolipoma (hamartoma): review of the literature and report of 7 cases. J Urol. 1971 Jan;105(1):32–44. doi: 10.1016/s0022-5347(17)61455-1. [DOI] [PubMed] [Google Scholar]
  6. Moss J. G., Hendry G. M. The natural history of renal cysts in an infant with tuberous sclerosis: evaluation with ultrasound. Br J Radiol. 1988 Nov;61(731):1074–1076. doi: 10.1259/0007-1285-61-731-1074. [DOI] [PubMed] [Google Scholar]
  7. Nellist M., Brook-Carter P. T., Connor J. M., Kwiatkowski D. J., Johnson P., Sampson J. R. Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1). J Med Genet. 1993 Mar;30(3):224–227. doi: 10.1136/jmg.30.3.224. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Oesterling J. E., Fishman E. K., Goldman S. M., Marshall F. F. The management of renal angiomyolipoma. J Urol. 1986 Jun;135(6):1121–1124. doi: 10.1016/s0022-5347(17)46013-7. [DOI] [PubMed] [Google Scholar]
  9. Okada R. D., Platt M. A., Fleishman J. Chronic renal failure in patients with tuberous sclerosis. Association with renal cysts. Nephron. 1982;30(1):85–88. doi: 10.1159/000182439. [DOI] [PubMed] [Google Scholar]
  10. Ravine D., Gibson R. N., Donlan J., Sheffield L. J. An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases. Am J Kidney Dis. 1993 Dec;22(6):803–807. doi: 10.1016/s0272-6386(12)70338-4. [DOI] [PubMed] [Google Scholar]
  11. Shepherd C. W., Gomez M. R., Lie J. T., Crowson C. S. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc. 1991 Aug;66(8):792–796. doi: 10.1016/s0025-6196(12)61196-3. [DOI] [PubMed] [Google Scholar]
  12. Stapleton F. B., Johnson D., Kaplan G. W., Griswold W. The cystic renal lesion in tuberous sclerosis. J Pediatr. 1980 Oct;97(4):574–579. doi: 10.1016/s0022-3476(80)80011-4. [DOI] [PubMed] [Google Scholar]
  13. Stillwell T. J., Gomez M. R., Kelalis P. P. Renal lesions in tuberous sclerosis. J Urol. 1987 Sep;138(3):477–481. doi: 10.1016/s0022-5347(17)43234-4. [DOI] [PubMed] [Google Scholar]
  14. Washecka R., Hanna M. Malignant renal tumors in tuberous sclerosis. Urology. 1991 Apr;37(4):340–343. doi: 10.1016/0090-4295(91)80261-5. [DOI] [PubMed] [Google Scholar]
  15. Webb D. W., Fryer A. E., Osborne J. P. On the incidence of fits and mental retardation in tuberous sclerosis. J Med Genet. 1991 Jun;28(6):395–397. doi: 10.1136/jmg.28.6.395. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Webb D. W., Kabala J., Osborne J. P. A population study of renal disease in patients with tuberous sclerosis. Br J Urol. 1994 Aug;74(2):151–154. doi: 10.1111/j.1464-410x.1994.tb16577.x. [DOI] [PubMed] [Google Scholar]
  17. Webb D. W., Osborne J. P. New research in tuberous sclerosis. BMJ. 1992 Jun 27;304(6843):1647–1648. doi: 10.1136/bmj.304.6843.1647. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Webb D. W., Super M., Normand I. C., Osborne J. P. Tuberous sclerosis and polycystic kidney disease. BMJ. 1993 May 8;306(6887):1258–1259. doi: 10.1136/bmj.306.6887.1258. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Yu D. T., Sheth K. J. Cystic renal involvement in tuberous sclerosis. Clin Pediatr (Phila) 1985 Jan;24(1):36–39. doi: 10.1177/000992288502400108. [DOI] [PubMed] [Google Scholar]
  20. van Baal J. G., Smits N. J., Keeman J. N., Lindhout D., Verhoef S. The evolution of renal angiomyolipomas in patients with tuberous sclerosis. J Urol. 1994 Jul;152(1):35–38. doi: 10.1016/s0022-5347(17)32809-4. [DOI] [PubMed] [Google Scholar]

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