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Renal manifestations of tuberous sclerosis complex

Vicente E Torres, MD
William M Bennett, MD
Section Editor
Ronald D Perrone, MD
Deputy Editor
Alice M Sheridan, MD


Tuberous sclerosis complex (TSC) is a genetic disease with autosomal dominant inheritance. It is caused by mutations in either the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome 16. The gene product of TSC1 is hamartin, and the gene product of TSC2 is tuberin. (See "Tuberous sclerosis complex: Genetics, clinical features, and diagnosis", section on 'Genetics'.)

TSC2 mutations generally produce a more severe phenotype than TSC1 mutations [1]. This includes a higher frequency and severity of renal angiolipomas and renal cysts and a higher risk for the development of renal cell carcinoma (RCC). (See 'Epidemiology' below and "Tuberous sclerosis complex: Genetics, clinical features, and diagnosis", section on 'Genotype-phenotype correlations'.)

The estimated prevalence of TSC ranges from 1 in 10,000 to 1 in 30,000 individuals in different studies [2-4]. However, it has been estimated that more than one-half of patients with TSC mutations are not detected [2] and that the birth incidence is higher, ranging from 1 in 5000 to 1 in 10,000 individuals [4].

This topic will review the renal manifestations of TSC, which include angiomyolipomas (AMLs), renal cysts, RCC, and other, less common manifestations. Sporadic renal AMLs and renal AMLs associated with sporadic pulmonary lymphangiomyomatosis are discussed elsewhere (see "Renal angiomyolipomas"). The clinical features, diagnosis, and management of TSC are also discussed in detail elsewhere. (See "Tuberous sclerosis complex: Genetics, clinical features, and diagnosis" and "Tuberous sclerosis complex associated lymphangioleiomyomatosis in adults" and "Tuberous sclerosis complex: Management and prognosis".)


The most common renal lesions associated with tuberous sclerosis complex (TSC) are angiomyolipomas (AMLs), cysts, and renal cell carcinoma (RCC). Less common renal manifestations include oncocytoma, interstitial disease, focal segmental glomerulosclerosis (FSGS), and other renal lesions (table 1).

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Literature review current through: Nov 2017. | This topic last updated: Mar 16, 2016.
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