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Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic dysplastic kidney

Jing Xu1, Dong-Ping Chen1, Zhi-Guo Mao1, He-Feng Huang2, Chen-Ming Xu2, Cong-Rong Wang3, Wei-Ping Jia3 and Chang-Lin Mei1*

Author Affiliations

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’s Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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BMC Nephrology 2013, 14:38  doi:10.1186/1471-2369-14-38

Published: 17 February 2013



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.


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.

Autosomal dominant polycystic kidney disease; Ectopia; Multicystic dysplasia; Unilateral