Polycystic kidney disease and chronic renal failure in tuberous sclerosis

Dhakal, Mona; Dhakal, Om Prakash; Bhandari, Dhurba

doi:10.1136/bcr-2013-200711

Cited by 7 publications

(6 citation statements)

References 21 publications

(24 reference statements)

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“…Encroachment into the normal renal tissue, leading to renal failure may occur; but in most patients, as in our case, renal failure was due to PKD or loss of normal renal tissue due to multiple interventions to treat hemorrhage. 9 …”

Section: Discussionmentioning

confidence: 99%

Renal Angiomyolipomatosis and Bleeding Aneurysms in a Tuberous Sclerosis Context: Selective Artery Embolization in a Girl with End-Stage Renal Failure

Pelizzo

Vallone²,

Milazzo

et al. 2020

Pediatric Reports

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Recent developments in endovascular radiological techniques and devices have rendered embolization a major therapeutic option prior to surgery in many renal vascular or neoplastic diseases. A 19-yearold female patient, with a diagnosis of tuberous sclerosis complex (TSC) in childhood, was admitted with severe anemia. Polycystic kidney disease in end-stage renal failure appeared four years before and the patient has been undergoing peritoneal dialysis. The patient’s medical history also included bilateral renal angiomyolipomas (AMLs). One year earlier, a unilateral endovascular embolization was performed to repair a bleeding aneurysm at the right renal upper pole. A second bilateral ruptured renal aneurysm was diagnosed at admission. To continue with peritoneal dialysis and prevent intrarenal hemorrhage and intraperitonal bleeding, an urgent bilateral renal AE was performed. Two months later she underwent a bilateral retroperitoneal nephrectomy. The posterior surgical approach, preserved the peritoneal surface area and adequate conditions to continue dialysis. At histology, bilateral AMLs were confirmed and a renal cell carcinoma of the right kidney was concurrently discovered. She undergoes continuous peritoneal dialysis. Urgent selective renal AE represents a feasible treatment for bilateral AML bleeding. It is safe and feasible before performing nephrectomy in patients with end-stage renal failure.

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Section: Discussionmentioning

confidence: 99%

Renal Angiomyolipomatosis and Bleeding Aneurysms in a Tuberous Sclerosis Context: Selective Artery Embolization in a Girl with End-Stage Renal Failure

Pelizzo

Vallone²,

Milazzo

et al. 2020

Pediatric Reports

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“…The majority of patients (more than 80%) with TSC develop some form of kidney disease during their lifetime 10. Angiomyolipoma and cystic kidney diseases are among the common renal manifestations of TSC, with ADPKD occurring only in about 2% of TSC cases 4. The classic ADPKD renal phenotype may occur in the context of TSC disease as a result of large deletions involving the PKD1 and TSC2 genes present on the chromosome 16p13.…”

Section: Discussionmentioning

confidence: 99%

“…Abdominal distention and hypertension are common manifestations of ADKPD in these cases 6. Progression to end-stage renal disease (ESRD) has been noted in early ages, even as early as the third decade in some cases, and requires renal replacement therapy 4 11 17 21 22. According to Sampson et al , most patients with non-mosaic deletions in TSC1/PKD2 gene were found to have enlarged cystic kidneys during infancy or childhood with features of advanced ADPKD at the time of diagnosis, but other patients had variable degrees of renal involvement.…”

Section: Discussionmentioning

confidence: 99%

Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo

Rijal

Dhakal²,

Giri³

et al. 2014

BMJ Case Reports

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Tuberous sclerosis complex (TSC) is an autosomal dominant condition characterised by the presence of multiple hamartomas in various organ systems in the body. The kidneys are affected in 80% of patients, usually in the form of renal angiomyolipomas, renal cysts or renal cell carcinoma. Although extremely rare, TSC and autosomal dominant polycystic kidney disease (ADPKD) can co-exist in the same patient as a result of concurrent deletion of both polycystic kidney disease (PKD) 1 and TSC2 genes present on the chromosome 16p13.3. These patients develop end-stage renal disease at an earlier age and have an increased risk of malignancy. We present a case of a 30-year-old man with a history of tuberous sclerosis, presenting with loin pain and subsequently diagnosed to have ADPKD.

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“…ADPKD accounts for fewer than 2% of TSC cases ( 33 , 34 ). The phenotypic intersection between TSC and ADPKD cases indicate the existence of a functional relationship between the respective genes that have been recently identified as the mTOR signal pathway ( 35 ).…”

Section: Pathophysiologymentioning

confidence: 99%

Renal Manifestations of Tuberous Sclerosis Complex

Nair

Chakraborty

Mahajan

et al. 2020

jkcvhl

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Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors, and seizures. TSC can manifest in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts, and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

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Polycystic kidney disease and chronic renal failure in tuberous sclerosis

Cited by 7 publications

References 21 publications

Renal Angiomyolipomatosis and Bleeding Aneurysms in a Tuberous Sclerosis Context: Selective Artery Embolization in a Girl with End-Stage Renal Failure

Renal Angiomyolipomatosis and Bleeding Aneurysms in a Tuberous Sclerosis Context: Selective Artery Embolization in a Girl with End-Stage Renal Failure

Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo

Renal Manifestations of Tuberous Sclerosis Complex

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