Pediatric Nephrology

, Volume 32, Issue 7, pp 1181–1192 | Cite as

Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome

  • Fang Wang
  • Yanqin Zhang
  • Jianhua Mao
  • Zihua Yu
  • Zhuwen Yi
  • Li Yu
  • Jun Sun
  • Xiuxiu Wei
  • Fangrui Ding
  • Hongwen Zhang
  • Huijie Xiao
  • Yong Yao
  • Weizhen Tan
  • Svjetlana Lovric
  • Jie DingEmail author
  • Friedhelm HildebrandtEmail author
Original Article



The aim of this study was to elucidate whether genetic screening test results of pediatric patients with steroid-resistant nephrotic syndrome (SRNS) vary with ethnicity.


Using high-throughput DNA sequencing, 28 nephrotic syndrome-related genes were analyzed in 110 chil-dren affected by SRNS and 10 children with isolated proteinuria enrolled by 5 centers in China (67 boys, 53 girls). Their age at disease onset ranged from 1 day to 208 months (median, 48.8 months). Patients were excluded if their age at onset of disease was over 18 years or if they were diagnosed as having Alport syndrome.


A genetic etiology was identified in 28.3% of our cohort and the likelihood of establishing a genetic diagnosis decreased as the age at onset of nephrotic syndrome increased. The most common mutated genes were ADCK4 (6.67%), NPHS1 (5.83%), WT1 (5.83%), and NPHS2 (3.33%), and the difference in the frequencies of ADCK4 and NPHS2 mutations between this study and a study on monogenic causes of SRNS in the largest international cohort of 1,783 different families was significant. A case of congenital nephrotic syndrome was attributed to a homozygous missense mutation in ADCK4, and a de novo missense mutation in TRPC6 was detected in a case of infantile nephrotic syndrome.


Our results showed that, in the first and the largest multicenter cohort of Chinese pediatric SRNS reported to date, ADCK4 is the most common causative gene, whereas there is a low prevalence of NPHS2 mutations. Our data indicated that the genetic testing results for pediatric SRNS patients vary with different ethnicities, and this information will help to improve management of the disease in clinical practice.


Children Chinese Gene Steroid-resistant nephrotic syndrome 



We thank all patients and their families for participating in this study. This work was supported by National "Twelfth Five-Year" Science and Technology Support Project (No. 2012BAI03B02).

Compliance with ethical standards

The procedures were approved by the ethics committees of the five centers. After receiving informed consent from the patients or their family members, blood samples and comprehensive clinical data were collected and analyzed.

Conflicts of interest

The authors declare that they have no conflicts of interest.

Supplementary material

467_2017_3590_MOESM1_ESM.docx (23 kb)
ESM 1 (DOCX 23 kb)
467_2017_3590_MOESM2_ESM.docx (22 kb)
(DOCX 21 kb)


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Copyright information

© IPNA 2017

Authors and Affiliations

  • Fang Wang
    • 1
  • Yanqin Zhang
    • 1
  • Jianhua Mao
    • 2
  • Zihua Yu
    • 3
  • Zhuwen Yi
    • 4
  • Li Yu
    • 5
  • Jun Sun
    • 6
    • 7
  • Xiuxiu Wei
    • 6
    • 7
  • Fangrui Ding
    • 1
  • Hongwen Zhang
    • 1
  • Huijie Xiao
    • 1
  • Yong Yao
    • 1
  • Weizhen Tan
    • 8
  • Svjetlana Lovric
    • 8
  • Jie Ding
    • 1
    Email author
  • Friedhelm Hildebrandt
    • 8
    Email author
  1. 1.Department of PediatricsPeking University First HospitalBeijingPeople’s Republic of China
  2. 2.Department of NephrologyThe Children Hospital of Zhejiang University School of MedicineHangzhouPeople’s Republic of China
  3. 3.Department of PediatricsFuzhou Dongfang HospitalFuzhouPeople’s Republic of China
  4. 4.Department of Pediatrics, The Second Xiangya HospitalCentral South UniversityChangshaPeople’s Republic of China
  5. 5.Department of PediatricsGuangzhou First People’s HospitalGuangzhouPeople’s Republic of China
  6. 6.Binhai Genomics InstituteTianjin Translational Genomics Center, BGI-Tianjin, BGI-shenzhenTianjinPeople’s Republic of China
  7. 7.BGI-ShenzhenShenzhenPeople’s Republic of China
  8. 8.Division of Nephrology, Boston Children’s HospitalHarvard Medical SchoolBostonUSA

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