2016, Cilt 25, Sayı 0, Sayfa(lar) 200-202
Tuberous Sclerosis Complex Mimicking Autosomal Dominant Polycystic Kidney Disease: A Case Report
DOI 10.5262/tndt.2016.50
Kübra AYDIN BAHAT1, Abdullah ÖZKÖK1, Yeşim ÖNAL1, Nazlı DİZMAN1, Banu ŞAHİN YILDIZ1, Gülşah ŞAŞAK1, Sabahat ALIŞIR1, Tevfik ECDER2, Ali Rıza ODABAŞ1
1İstanbul Medeniyet Üniversitesi, Göztepe Eğitim Araştırma Hastanesi, Nefroloji Bölümü, İstanbul, Türkiye
2İstanbul Bilim Üniversitesi Tıp Fakültesi, Nefroloji Bilim Dalı, İstanbul, Türkiye
Keywords: Tuberous sclerosis complex, Autosomal dominant polycystic kidney disease, Hematuria, Epilepsy, Angiofibromas, Hypomelanotic macule

A 22 year-old-male was admitted with macroscopic hematuria. He had a diagnosis of tuberous sclerosis complex (TSC). On physical examination, angiofibromas were observed in the nasolabial folds and hypomelanotic macules were present on the lower extremities. Abdominal computed tomography revealed that both kidneys were extremely enlarged with numerous cysts resembling autosomal dominant polycystic kidney disease (ADPKD). The hematuria was considered to be caused by hemorrhagic renal cysts or undetected angiomyolipomas. At follow-up, end-stage renal disease developed and hemodialysis was started.

TSC is an autosomal dominant disease in which hamartomas and cysts may develop in the brain, lungs, kidneys, heart and skin. TSC is caused by inactivating mutations in TSC1 on chromosome 9q32-q34 or TSC2 on chromosome 16p13, adjacent to the PKD1 gene. Large deletions involving both PKD1 and TSC2 may lead to the PKD1/TSC2 contiguous gene deletion syndrome that may cause an overlap syndrome having the clinical features of both TSC and ADPKD, as in this case.


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