SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract

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• 作者：Susanna Negrisolo ; Sonia Centi ; Elisa Benetti ; Giulia Ghirardo&#8230
• 关键词：CAKUT ; Children ; Kidney and urinary tract congenital anomalies ; Renal transplant recipients ; SIX1 gene
• 刊名：Journal of Nephrology
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：27
• 期：6
• 页码：667-671
• 全文大小：
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• 作者单位：Susanna Negrisolo (1)
  Sonia Centi (1)
  Elisa Benetti (2)
  Giulia Ghirardo (2)
  Manuela Della Vella (1)
  Luisa Murer (2)
  Lina Artifoni (1)
  
  1. Laboratory of Immunopathology and Molecular Biology of the Kidney, Women鈥檚 and Children鈥檚 Health Department, University of Padua, Via Giustiniani 3, 35128, Padua, Italy
  2. Pediatric Nephrology, Dialysis and Transplant Unit, Women鈥檚 and Children鈥檚 Health Department, University of Padua, Via Giustiniani 3, 35128, Padua, Italy
  
• 刊物类别：Nephrology; Urology;
• 刊物主题：Nephrology; Urology;
• 出版者：Springer International Publishing
• ISSN：1724-6059

文摘

Background Mutations in human SIX1 gene cause branchiootorenal or branchiootic syndrome. Six1 deficient mice exhibit uni- or bilateral renal hypoplasia or kidney agenesis. Furthermore a lack of Six1 gene in the ureter leads to hydroureter and hydronephrosis. These murine malformations resemble human kidney and urinary tract congenital anomalies (CAKUT), a group of diseases with a diverse anatomical spectrum which includes duplex collecting system as much as urethra kidney and ureteropelvic anomalies. Our study focuses on whether mutations or deletion of this gene may be associated with nonsyndromic CAKUT.