Cystic Renal Involvement in Tuberous Sclerosis

Yu, Diana T.; Sheth, Kumudchandra J.

doi:10.1177/000992288502400108

Cited by 23 publications

(4 citation statements)

References 13 publications

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“…Out of 45 patients who had a test for serum urea and creatinine, only four had elevated levels—three of them had cysts with or without AML lesions and one had only AML. The authors suggested that the presence of renal cysts contributed to the renal dysfunction, which was also endorsed by previous reports ( 116 , 117 ). A possible mechanism is the concomitant deletions affecting the TSC2 and PKD1 genes on chromosome 16p ( 118 ).…”

Section: Renal Impairmentsupporting

confidence: 70%

The Risks of Renal Angiomyolipoma: Reviewing the Evidence

Seyam

Alkhudair

Kattan

et al. 2017

jkcvhl

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Renal angiomyolipoma (RAML), though a rare benign tumor, may impose a significant morbidity or even mortality due to its unique characteristics and the complications subsequent to its treatment. The classic tumor variant is composed of smooth muscular, vascular, and fatty components. The most straightforward diagnosis is when the fat component is abundant and gives a characteristic appearance on different imaging studies. In fat-poor lesions, however, the diagnosis is difficult and presumed a renal cell carcinoma. Yet, some variants of RAML, though rare, express an aggressive behavior leading to metastasis and mortality. The challenge lies in the early detection of benign variants and identifying aggressive lesions for proper management. Another challenge is when the vascular tissue component predominates and poses a risk of hemorrhage that may extend to the retroperitoneum in a massive life-threatening condition. The predicament here is to identify the characteristics of tumors at risk of bleeding and provide a prophylactic treatment. According to the clinical presentation, different treatment modalities, prophylactic or therapeutic, are available that span the spectrum of observation, embolization, or surgery. Renal impairment may result from extensive tumor burden or as a complication of the management itself. Improvement of diagnostic techniques, super-selective embolization, nephron-sparing surgery, and late treatment with the mammalian target of rapamycin inhibitors have provided more effective and safe management strategies. In this review, we examine the evidence pertaining to the risks imposed by RAML to the patients and identify merits and hazards associated with different treatment modalities.

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Section: Renal Impairmentsupporting

confidence: 70%

The Risks of Renal Angiomyolipoma: Reviewing the Evidence

Seyam

Alkhudair

Kattan

et al. 2017

jkcvhl

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“…2 The kidneys of patients with tuberous sclerosis are known to have angiomyolipomas and/or renal cysts in 40% to 80% of cases. 3,4 The infant in our case presented because of massive bilateral flank masses that were found to be massively enlarged cystic kidneys bilaterally on sonography. The work-up of the large kidneys with innumerable cysts involved careful evaluation of clinical, genetic, and radiological data.…”

Section: Discussionmentioning

confidence: 79%

Tuberous sclerosis presenting as bilateral flank masses in an infant

Wheeler

Rosenfeld

Vates

et al. 1997

J. Clin. Ultrasound

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“…A CT scan or an ultrasound of the abdomen is almost always sufficient to diagnose polycystic kidney disease due presence of some specific features. This also differentiates cystic renal lesions from angiomyolipomas 24. ACE inhibitors are preferred antihypertensive drugs in these patients due to their renoprotective effect.…”

Section: Discussionmentioning

confidence: 92%

Polycystic kidney disease and chronic renal failure in tuberous sclerosis

Dhakal¹,

Dhakal²,

Bhandari

2013

BMJ Case Reports

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Tuberous sclerosis is a rare genetic disease which leads to formation of benign tumours in the brain and other organs of the body. It is a multisystem disease with various clinical manifestations. Renal angiomyolipomas are the most common renal manifestations whereas renal cell carcinoma is the least. Renal cysts are found in around 20% of the patients but polycystic kidney disease is present in less than 2% cases and is relatively rare manifestation of the disease. We present a case of tuberous sclerosis in a 60-year-old man who presented to the medicine outpatient department for routine evaluation of his hypertension. He was diagnosed as tuberous sclerosis. His ultrasound and CT scan of abdomen revealed polycystic kidney disease. His kidney function test and urine analysis were suggestive of chronic kidney disease.

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Cystic Renal Involvement in Tuberous Sclerosis

Cited by 23 publications

References 13 publications

The Risks of Renal Angiomyolipoma: Reviewing the Evidence

The Risks of Renal Angiomyolipoma: Reviewing the Evidence

Tuberous sclerosis presenting as bilateral flank masses in an infant

Polycystic kidney disease and chronic renal failure in tuberous sclerosis

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