Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic dysplastic kidney

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• 作者：Jing Xu (1)
  Dong-Ping Chen (1)
  Zhi-Guo Mao (1)
  He-Feng Huang (2)
  Chen-Ming Xu (2)
  Cong-Rong Wang (3)
  Wei-Ping Jia (3)
  Chang-Lin Mei (1)
  
• 关键词：Autosomal dominant polycystic kidney disease ; Ectopia ; Multicystic dysplasia ; Unilateral
• 刊名：BMC Nephrology
• 出版年：2013
• 出版时间：December 2013
• 年：2013
• 卷：14
• 期：1
• 全文大小：217KB
• 参考文献：1. Alam A, Perrone RD: Management of ESRD in patients with autosomal dominant polycystic kidney disease. / Adv Chronic Kidney Dis 2010, 17:164鈥?72. CrossRef
  2. Poster D, Kistler AD, Krauer F, Blumenfeld JD, Rennert H, Weishaupt D, W眉thrich RP, Serra AL: Kidney function and volume progression in unilateral autosomal dominant polycystic kidney disease with contralateral renal agenesis or hypoplasia: a case series. / Am J Kidney Dis 2009, 54:450鈥?58. CrossRef
  3. Schreuder MF, Westland R, van Wijk JA: Unilateral multicystic dysplastic kidney: a meta-analysis of observational studies on the incidence, associated urinary tract malformations and the contralateral kidney. / Nephrol Dial Transplant 2009, 24:1810鈥?818. CrossRef
  4. Grantham JJ, Torres VE, Chapman AB, Guay-Woodford LM, Bae KT, King BF Jr, Wetzel LH, Baumgarten DA, Kenney PJ, Harris PC, Klahr S, Bennett WM, Hirschman GN, Meyers CM, Zhang X, Zhu F, Miller JP, CRISP Investigators: Volume progression in polycystic kidney disease. / N Engl J Med 2006, 354:2122鈥?130. CrossRef
  5. Aslam M, Watson AR, Trent & Anglia MCDK Study Group: Unilateral multicystic dysplastic kidney: long term outcomes. / Arch Dis Child 2006, 91:820鈥?23. CrossRef
  6. Nakayama M, Nozu K, Goto Y, Kamei K, Ito S, Sato H, Emi M, Nakanishi K, Tsuchiya S, Iijima K: HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. / Pediatr Nephrol 2010, 25:1073鈥?079. CrossRef
  7. Weber S, Moriniere V, Kn眉ppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskien茅 A, Mir S, Montini G, Peco-Antic A, W眉hl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R: Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. / J Am Soc Nephrol 2006, 17:2864鈥?870. CrossRef
  8. Hains DS, Bates CM, Ingraham S, Schwaderer AL: Management and etiology of the unilateral multicystic dysplastic kidney: a review. / Pediatr Nephrol 2009, 24:233鈥?41. CrossRef
  9. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2369/14/38/prepub
  
• 作者单位：Jing Xu (1)
  Dong-Ping Chen (1)
  Zhi-Guo Mao (1)
  He-Feng Huang (2)
  Chen-Ming Xu (2)
  Cong-Rong Wang (3)
  Wei-Ping Jia (3)
  Chang-Lin Mei (1)
  
  1. Division of Nephrology, Kidney Institute of CPLA, Changzheng Hospital, Second Military Medical University, 415 Fengyang Rd, 200003, Shanghai, China
  2. Zhejiang University affiliated Gynecology and Obstetrics Hospital, Key Laboratory of Reproductive Genetics, Zhejiang University, Hangzhou, China
  3. Division of Endocrinology, Shanghai Diabetes Institute, Shanghai Sixth People鈥檚 Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
  

文摘

Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder. In most cases, ADPKD similarly affects bilateral kidneys. Case presentation Among the 605 ADPKD patients that were followed up by our center, we identified two male patients with unilateral ADPKD. The cases were remarkable because the patients also had ectopia and multicystic dysplasia in the contralateral kidney, which are generally sporadic disease conditions. Both patients tested positive for polycystic kidney disease 1 mutation, but negative for hepatocyte nuclear factor 1 beta mutation. Moreover, the deterioration of their kidney function seemed to be quicker than their age- and sex-matched controls and siblings. Both patients had started a long-term hemodialysis in their 40s. Conclusion Anatomical and genetic abnormality in patients with ADPKD may be more frequent and complex than previously believed. The compensatory capacity in patients with ADPKD is fragile, and missing one kidney could accelerate the deterioration of renal function.