Tuberous sclerosis complex-associated renal angiomyolipomas: A single center study of 17 consecutive cases

Wang, Hang; Long, Qilai; Wang, Yiwei; Liu, Li; Zhou, Lin; Guo, Jianming

doi:10.3892/ol.2016.4766

Cited by 2 publications

(5 citation statements)

References 27 publications

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“… 13 It is a technically feasible and minimally invasive procedure for controlling severe hemorrhage, improving clinical symptoms and preventing tumor progression in patients with renal AMLs. 13 , 17 , 26-27 We confirmed the feasibility of this approach also under urgent conditions and when renal failure was present. The risk of AML rupture is not exclusively associated with the lesion size; however, to limit the risk of retroperitoneal haemorrhage, prophylactic immunosuppressive interventions are recommended for AML with a diameter of >3 cm.…”

Section: Discussionsupporting

confidence: 71%

“…The blood vessels within AMLs are abnormal with no internal elastic lamina and the smooth muscle is replaced by fibrous tissue making the vessels rigid, tortuous and prone to aneurysm formation and rupture. 17 The main morbidity associated with AML is spontaneous life-threatening hemorrhage, which can be retroperitoneal or present with visible hematuria. 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.…”

Section: Discussionmentioning

confidence: 99%

“…These renal tumors are classically identified by the characteristic presence of fat observed with computed tomography (CT), magnetic resonance imaging or ultrasonography. 17-18 …”

Section: Discussionmentioning

confidence: 99%

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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: Discussionsupporting

confidence: 71%

Section: Discussionmentioning

confidence: 99%

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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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“…In most cases, however, the involvement of lungs is diffuse and bilateral, which should be taken as an argument against T2SM. The same is true for the TSC‐associated angiomyolipomas of kidneys . The involvement is likewise bilateral in most cases.…”

Section: Disorders Of Connective Tissue or Bonesmentioning

confidence: 63%

“…The same is true for the TSC-associated angiomyolipomas of kidneys. 138,139 The involvement is likewise bilateral in most cases. On the other hand, a giant aneurysm arising from such angiomyolipoma ( Fig.…”

Section: (A) (B) (C)mentioning

confidence: 99%

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Happle

2018

Acad Dermatol Venereol

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In autosomal dominant skin disorders, the well-known type 1 segmental mosaicism reflects heterozygosity for a postzygotic new mutation. By contrast, type 2 segmental mosaicism originates in a heterozygous embryo from an early postzygotic mutational event giving rise to loss of the corresponding wild-type allele, which results in a pronounced segmental involvement being superimposed on the ordinary, non-segmental phenotype. Today, this concept has been proven by molecular analysis in many cutaneous traits. The purpose of this review was to seek publications of cases suggesting an extracutaneous manifestation of type 2 segmental mosaicism. Case reports documenting a pronounced extracutaneous segmental involvement were collected from the literature available in PubMed and from personal communications to the author. Pertinent cases are compared to the description of cutaneous segmental mosaicism of type 1 or type 2 as reported in a given trait. In total, reports suggesting extracutaneous type 2 segmental mosaicism were found in 14 different autosomal dominant skin disorders. In this way, clinical evidence is accumulated that extracutaneous type 2 segmental mosaicism does likewise occur in many autosomal dominant skin disorders. So far, however, molecular proof of this particular form of mosaicism is lacking. The present review may stimulate readers to inform colleagues of other specialties on this new concept, in order to initiate further research in this particular field of knowledge that has important implications for diagnosis, treatment and genetic counselling.

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Tuberous sclerosis complex-associated renal angiomyolipomas: A single center study of 17 consecutive cases

Cited by 2 publications

References 27 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

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

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