Tuberous sclerosis associated with autosomal dominant polycystic kidney disease: Case report about of the TSC2/PKD1 contiguous gene syndrome
DOI:
https://doi.org/10.11606/issn.2176-7262.v49i6p583-586Keywords:
Tuberous Sclerosis. Chronic Kidney Disease. Polycystic Kidney, Autosomal DominantAbstract
We present a case of a young woman with chronic kidney disease, with a history of seizures, episodes of spontaneous pneumothorax and left nephrectomy. The retrospective study of the image exams showed liver, kidney and lung cysts; in addition to cortical tubers and subependymal nodules in the brain. The pathologic evaluation of kidney surgically removed characterised adult renal polycystic disease. The clinical review also with these tests revealed the diagnosis of tuberous sclerosis, and autosomal dominant polycystic kidney disease, suggesting contiguous gene syndrome TSC2/PKD1Downloads
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2016-12-08
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Queiroz RM, Gomes MP, Valentin MVN, Miyake CH, Abud LG, Silva M de C e. Tuberous sclerosis associated with autosomal dominant polycystic kidney disease: Case report about of the TSC2/PKD1 contiguous gene syndrome. Medicina (Ribeirão Preto) [Internet]. 2016 Dec. 8 [cited 2024 Jul. 18];49(6):583-6. Available from: https://revistas.usp.br/rmrp/article/view/127452