The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype
نویسندگان
چکیده
منابع مشابه
Concurrent hepatic and ruptured renal angiomyolipoma in tuberous sclerosis complex.
Angiomyolipoma of the liver or kidney is one of the clinical manifestations of tuberous sclerosis complex. However, concurrence of angiomyolipoma in both liver and kidney associated with tuberous sclerosis complex is a rare entity. Renal angiomyolipomas with large aneurysms confer a higher probability of rupture as compared to small aneurysms. Herein, we document a case of tuberous sclerosis co...
متن کاملTuberous sclerosis with bilateral renal angiomyolipoma.
Tuberous sclerosis is 2nd most common neurocutaneous syndrome. Bilateral renal angiomyolipoma in tuberous sclerosis is a rare entity. Reporting two cases of tuberous sclerosis with bilateral renal angiomyolipomas.
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In The Lancet, John Bissler and colleagues report the fi rst randomised, double-blind, placebo-controlled, phase 3 trial of everolimus, an inhibitor of mammalian target of rapamycin (mTOR), in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis, and angiomyolipoma. Their fi ndings suggest a clear advantage for everolimus over placebo in reducing angiomyolipoma volume w...
متن کاملGenotype and psychological phenotype in tuberous sclerosis.
T uberous sclerosis complex (TSC, MIM 191090 and 191100) is an autosomal dominant, multisystem disorder characterised by the development of a variety of hamartomatous growths. The TSC phenotype includes renal involvement (in over 80% of patients) with angiomyolipomas and cysts; skin involvement with facial angiofibromas, hypomelanotic macules, shagreen patches, and periungual fibromas; and card...
متن کاملGenotype-phenotype correlations in tuberous sclerosis.
EDITOR—Van Slegtenhorst et al reported a mutational analysis of 225 patients with tuberous sclerosis (TSC) and concluded that there was no evidence for genotypephenotype correlation. At virtually the same time, Jones et al from CardiV published supportive evidence for genotype-phenotypic correlation in their comprehensive mutational analysis of TSC1 and TSC2 in 150 families. How can such confli...
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ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2021
ISSN: 1664-8021
DOI: 10.3389/fgene.2020.575750