.
"Tuberous sclerosis complex (TSC) is
a multi-organ, genetic disease that affects an estimated up to 1 million people
worldwide. (1,2) TSC causes nonmalignant
tumors to form in multiple organs, including subependymal giant cell
astrocytoma (SEGA), which occurs in the brain, and angiomyolipoma in the
kidneys.(3)Renal angiomyolipoma occurs in up to 80% of patients with TSC;
several studies suggest that the incidence increases in frequency with age.(4)
References:
References:
1.
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Budde K, Gaedeke J. Tuberous
sclerosis complex-associated angiomyolipomas: focus on mTOR inhibition. Am J
Kidney Dis. 2012;59(2):276-283.
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2.
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Tuberous sclerosis fact sheet.
National Institute of Neurological Disorders and Stroke Web site. http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_
tuberous_sclerosis.htm. Accessed March 23, 2012.
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3.
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Crino PB, Nathanson KL, Henske EP.
The tuberous sclerosis complex. N Engl J Med. 2006;355:1345-1356.
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4.
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Ewalt DH, Sheffield E, Sparagana
SP, et al. Renal lesion growth in children with tuberous sclerosis complex. J
Urol. 1998;160:141-145."
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Admittedly, my practice is limited
to pediatrics. Of the many (and I do mean many) patients I have seen with
tuberous sclerosis since 1984, none to date has had a symptomatic angiomyolipoma. A colleague has a 17 year old patient with
multiple angiomyolipomas. The most
recent abdominal MRI showed ‘interval increase in size of complex heterogeneous
lesion involving the midportion of the right kidney which now measures 4.1 cm
maximum diameter.” There is a hemangioma
of the right lobe of the liver, as well.
The patient is “closely followed by urology”. Another 28 year old patient of the same
colleague, for whom I provided pediatric neurology care in the remote past, has
renal angiomyolipomas. He has had one or
several episodes of hematuria. He is “followed
closely”, as well. I have never had a
patient who underwent surgical intervention for tuberous sclerosis related
renal disease nor at present do I know of any such patient treated by my
colleagues locally, and I am a pretty nosy guy.
Regarding renal angiomyolipomas and other renal manifestations of tuberous sclerosis, in a catchment of patients ranging in age from 1 month to 59 years with a mean of 15.7 years and SD of 14.4: "Our results suggest that renal lesions in TSC are infrequently symptomatic and rarely fatal. Nine (9.4%) of 96 patients with known renal lesions had undergone biopsy or nephrectomy for AML or renal cell carcinoma. Six (6.3%) had hemorrhagic episodes. One patient died of renal cell carcinoma. None had end-stage renal disease while being followed in this practice. Therefore, we emphasize that, although close follow-up is critical for all patients with renal involvement, the rate of significant renal morbidity in the overall TSC population is low." Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA. Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors. Kidney Int. 2006 Nov;70(10):1777-82.
ReplyDeleteI received a letter regarding a patient with tuberous sclerosis from a nephrologist who has been following her for many years for renal cysts. On the latest renal ultrasound, the bilateral cysts were either diminished or unchanged in size. Follow-up in 2 years proposed. The story of my life with renal disease in tuberous sclerosis.
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