Abstract
Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal survival and improved quality of life for the TSC patient. This review specifically addresses some of the major renal manifestations of this disease.
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References
1.
Crino P, Nathanson K, Henske E: The tuberous sclerosis complex. N Engl J Med 2006;355:1345–1356.
[PubMed]
2.
Yates J: Tuberous sclerosis. Eur J Hum Genet 2006;14:1065–1073.
[PubMed]
3.
Curatolo P: Tuberous Sclerosis Complex: From Basic Science to Clinic Phenotypes. London, Mac Keith Press, 2003.
4.
Shepherd CW, Gomez MR, Lie JT, Crowson CS: Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991;66:792–796.
[PubMed]
5.
Dabora SL, Jozwiak S, Franz DN, et al: Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001;68:64–80.
[PubMed]
6.
Ewalt DH, Sheffield E, Sparagana SP, Delgado MR, Roach ES: Renal lesion growth in children with tuberous sclerosis complex. J Urol 1998;160:141–145.
[PubMed]
7.
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;70:1777–1782.
[PubMed]
8.
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;61:843–851.
[PubMed]
9.
Bissler JJ, Siroky BJ, Yin H: Glomerulocystic kidney disease. Pediatr Nephrol 2010;25:2049–2056; quiz 2056–2059.
[PubMed]
10.
Patel V, Li L, Cobo-Stark P, et al: Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia. Hum Mol Genet 2008;17:1578–1590.
[PubMed]
11.
de Chadarevian JP, Legido A, Miles DK, Katsetos CD: Epilepsy, atherosclerosis, myocardial infarction, and carbamazepine. J Child Neurol 2003;18:150–151.
[PubMed]
12.
Siroky B, Yin H, Bissler J: Insights into tuberous sclerosis complex renal disease. Pediatr Nephrol 2010, in press.
13.
O’Callaghan FJ, Harris T, Joinson C, et al: The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex. Arch Dis Child 2004;89:530–533.
[PubMed]
14.
Ou YC, Wu HC, Yang CR, Chang CL, Hwang TI, Chang CH: Renal angiomyolipoma: experience of 23 patients. Chung Hua I Hsueh Tsa Chih (Taipei) 1991;48:217–223.
15.
Bissler JJ, Racadio J, Donnelly LF, Johnson ND: Reduction of postembolization syndrome after ablation of renal angiomyolipoma. Am J Kidney Dis 2002;39:966–971.
[PubMed]
16.
Casper KA, Donnelly LF, Chen B, Bissler JJ: Tuberous sclerosis complex: renal imaging findings. Radiology 2002;225:451–456.
[PubMed]
17.
Adler J, Greweldinger J, Litzky G: ‘Macro’ aneurysm in renal angiomyolipoma: two cases, with therapeutic embolization in one patient. Urol Radiol 1984;6:201–203.
[PubMed]
18.
Kessler OJ, Gillon G, Neuman M, Engelstein D, Winkler H, Baniel J: Management of renal angiomyolipoma: analysis of 15 cases. Eur Urol 1998;33:572–575.
[PubMed]
19.
Mouded IM, Tolia BM, Bernie JE, Newman HR: Symptomatic renal angiomyolipoma: report of 8 cases, 2 with spontaneous rupture. J Urol 1978;119:684–688.
[PubMed]
20.
Pode D, Meretik S, Shapiro A, Caine M: Diagnosis and management of renal angiomyolipoma. Urology 1985;25:461–467.
[PubMed]
21.
Yamakado K, Tanaka N, Nakagawa T, Kobayashi S, Yanagawa M, Takeda K: Renal angiomyolipoma: relationships between tumor size, aneurysm formation, and rupture. Radiology 2002;225:78–82.
[PubMed]
22.
Fox CH, Voleti V, Khan LS, Murray B, Vassalotti J: A quick guide to evidence-based chronic kidney disease care for the primary care physician. Postgrad Med 2008;120:E01–E06.
23.
Williams JM, Racadio JM, Johnson ND, Donnelly LF, Bissler JJ: Embolization of renal angiomyolipomata in patients with tuberous sclerosis complex. Am J Kidney Dis 2006;47:95–102.
[PubMed]
24.
Patel U, Simpson E, Kingswood JC, Saggar-Malik AK: Tuberose sclerosis complex: analysis of growth rates aids differentiation of renal cell carcinoma from atypical or minimal-fat-containing angiomyolipoma. Clin Radiol 2005;60:665–673; discussion 3–4.
[PubMed]
25.
Eble JN, Amin MB, Young RH: Epithelioid angiomyolipoma of the kidney: a report of five cases with a prominent and diagnostically confusing epithelioid smooth muscle component. Am J Surg Pathol 1997;21:1123–1130.
[PubMed]
26.
Mai KT, Perkins DG, Collins JP: Epithelioid cell variant of renal angiomyolipoma. Histopathology 1996;28:277–280.
[PubMed]
27.
Karbowniczek M, Yu J, Henske EP: Renal angiomyolipomas from patients with sporadic lymphangiomyomatosis contain both neoplastic and non-neoplastic vascular structures. Am J Pathol 2003;162:491–500.
[PubMed]
28.
Lin CN, Chiang HS, Hsu SI, Huang AH, Chuang SS: Renal angiomyolipoma with a prominent angiomatous component and extramedullary hematopoiesis: a case report. Chung Hua I Hsueh Tsa Chih (Taipei) 1994;53:185–187.
29.
Tweeddale DN, Dawe CJ, McDonald JR: Angiolipoleiomyoma of the kidney: report of a case with observations on histogenesis. Cancer 1955;8:764–770.
[PubMed]
30.
Obuz F, Karabay N, Secil M, Igci E, Kovanlikaya A, Yorukoglu K: Various radiological appearances of angiomyolipomas in the same kidney. Eur Radiol 2000;10:897–899.
[PubMed]
31.
Wong AL, McGeorge A, Clark AH: Renal angiomyolipoma: a review of the literature and a report of 4 cases. Br J Urol 1981;53:406–411.
[PubMed]
32.
Eble JN: Angiomyolipoma of kidney. Semin Diagn Pathol 1998;15:21–40.
[PubMed]
33.
Bjornsson J, Short MP, Kwiatkowski DJ, Henske EP: Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. Am J Pathol 1996;149:1201–1208.
[PubMed]
34.
Hardman JA, McNicholas TA, Kirkham N, Fletcher MS: Recurrent renal angiomyolipoma associated with renal carcinoma in a patient with tuberous sclerosis. Br J Urol 1993;72:983–984.
[PubMed]
35.
Aydin H, Magi-Galluzzi C, Lane BR, et al: Renal angiomyolipoma: clinicopathologic study of 194 cases with emphasis on the epithelioid histology and tuberous sclerosis association. Am J Surg Pathol 2009;33:289–297.
[PubMed]
36.
Saito K, Fujii Y, Kasahara I, Kobayashi N, Kasuga T, Kihara K: Malignant clear cell ‘sugar’ tumor of the kidney: clear cell variant of epithelioid angiomyolipoma. J Urol 2002;168:2533–2534.
[PubMed]
37.
Pea M, Bonetti F, Martignoni G, et al: Apparent renal cell carcinomas in tuberous sclerosis are heterogeneous: the identification of malignant epithelioid angiomyolipoma. Am J Surg Pathol 1998;22:180–187.
[PubMed]
38.
Kim JK, Park SY, Shon JH, Cho KS: Angiomyolipoma with minimal fat: differentiation from renal cell carcinoma at biphasic helical CT. Radiology 2004;230:677–684.
[PubMed]
39.
Jinzaki M, Tanimoto A, Narimatsu Y, et al: Angiomyolipoma: imaging findings in lesions with minimal fat. Radiology 1997;205:497–502.
[PubMed]
40.
Hafron J, Fogarty JD, Hoenig DM, Li M, Berkenblit R, Ghavamian R: Imaging characteristics of minimal fat renal angiomyolipoma with histologic correlations. Urology 2005;66:1155–1159.
[PubMed]
41.
Mitchell DG, Crovello M, Matteucci T, Petersen RO, Miettinen MM: Benign adrenocortical masses: diagnosis with chemical shift MR imaging. Radiology 1992;185:345–351.
[PubMed]
42.
Israel GM, Hindman N, Hecht E, Krinsky G: The use of opposed-phase chemical shift MRI in the diagnosis of renal angiomyolipomas. AJR Am J Roentgenol 2005;184:1868–1872.
[PubMed]
43.
Young LR, Franz DN, Nagarkatte P, et al: Utility of [18F]2-fluoro-2-deoxyglucose-PET in sporadic and tuberous sclerosis-associated lymphangioleiomyomatosis. Chest 2009;136:926–933.
[PubMed]
44.
Jiang X, Kenerson H, Aicher L, et al: The tuberous sclerosis complex regulates trafficking of glucose transporters and glucose uptake. Am J Pathol 2008;172:1748–1756.
[PubMed]
45.
Bissler JJ, McCormack FX, Young LR, et al: Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med 2008;358:140–151.
[PubMed]
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