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Arch Iran Med. 2012;15(6): 0.
PMID: 22642252
Scopus ID: 84863102859
  Abstract View: 2183
  PDF Download: 1093

Case Report

Tuberous Sclerosis Presented With Polycystic Kidney Disease and Acute Renal Failure

Ahmet Engin Atay*, Suleyman Ozupekce, Halit Akbas, Murat Acar, Semir Pasa, Memduh Oruc
*Corresponding Author: Email: aeatay@hotmail.com

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomatous involvement of multiple organs such as the skin, central nervous system, kidneys, lungs, and heart. A linkage has been found with a locus on the long arm of chromosome 9 (9q34) and with a locus on the short arm of chromosome 16 (16p13). TSC has a birth incidence of 1/6000. Children with TSC are almost universally born with normal kidneys, but cystic disease and angiomyolipomas develop with increasing age. Angiomyolipomas, renal cysts, and renal cell carcinoma are classical features of renal involvement in TSC. Renal complications are the most common cause of death in adult TSC patients, thus renal involvement has a crucial importance on the course of this disease. We present a 27-year-old patient previously diagnosed as tuberous sclerosis complex and referred with acute renal failure and polycystic kidney disease.

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ePublished: 01 Jun 2012
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