Abstract
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
Highlights
We present a case of a young woman with chronic kidney disease, with a history of seizures, episodes of spontaneous pneumothorax and left nephrectomy
A síndrome do gene contíguo (SGC) TSC2/PKD1 consiste em deleções afetando conjuntamente esses genes no cromossomo 16, sendo os casos em sua grande maioria esporádicos.[2,3,4,8,9,10,11] Estima-se que represente até 3% das esclerose tuberosa (ET).[4] Caracteriza-se por manifestações precoces das doença renal policística autossômica dominante (DRPAD) e ET, ocasionando pior prognóstico devido ao efeito sinérgico/aditivo de ambas.[4,9,10,11] Devese suspeitar em casos de ET ou DRPAD que evoluem rapidamente para doença renal crônica (DRC) antes dos 30 anos.[4,8,9,10,11] A apresentação na infância ou até mesmo da fase intra-útero de rins de dimensões acentuadamente aumentadas, exibindo 50% ou mais do parênquima substituído por pelo menos 15 cistos é altamente sugestivo da SGC.[12,13] Os cistos renais e o aumento das dimensões dos rins também estão presentes em portadores de ET, entretanto tais achados são detectados geralmente na fase adulta e evoluem progressivamente.[12,13]
Summary
We present a case of a young woman with chronic kidney disease, with a history of seizures, episodes of spontaneous pneumothorax and left nephrectomy.
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