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논문분류 춘계학술대회 초록집
제목 KIDNEY FAILURE AS INITIAL PRESENTATION OF TUBEROUS SCLEROSIS IN A 42-YEAR OLD FILIPINO
저자 Ray Alexandra Consuelo Salazar, Amerigo Jr. Bautista
출판정보 2019; 2019(1):
키워드 polycystic kidneys, | renal angiomyolipoma | tuberous sclerosis complex
초록 Tuberous sclerosis complex (TSC) is a rare genetic disorder that involves many organs. It usually presents as a learning disability or a seizure disorder in a child. Classic skin lesions herald the condition. Few cases are reported in adults and fewer still present initially as kidney failure.  We report a previously well 42-year old woman who presented with dyspnea, easy fatigability, a generalized seizure, and classic skin lesions of TSC. The baseline serum creatinine was markedly elevated and the CT scan revealed polycystic kidneys and an angiomyolipoma on the left kidney.  She underwent hemodialysis and was eventually discharged.  It is rare for TSC to manifest with polycystic kidneys and renal angiomyolipoma (RAML) leading to end-stage renal disease. Prompt recognition of TSC with kidney failure avoids delay in the initiation of life-saving renal replacement therapy.
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