Open AccessTuberous sclerosis associated with autosomal dominant polycystic kidney disease: Case report about of the TSC2/PKD1 contiguous gene syndrome
Author(s) -
Rodolfo Mendes Queiroz,
Maria de Lourdes Contente Gomes,
Marcus Vinícius Nascimento Valentin,
Cecília Hissae Miyake,
Lucas Giansante Abud,
Marcio de Castro e Silva
Publication year - 2016
Publication title -
medicina
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.104
H-Index - 10
eISSN - 2176-7262
pISSN - 0076-6046
DOI - 10.11606/issn.2176-7262.v49i6p583-586
Subject(s) - tuberous sclerosis , pkd1 , medicine , tsc2 , autosomal dominant polycystic kidney disease , polycystic kidney disease , pathology , kidney disease , nephrectomy , tsc1 , kidney , lung , disease , gastroenterology , biology , apoptosis , biochemistry , pi3k/akt/mtor pathway
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/PKD1