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15.02.2017 | Original Article

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

verfasst von: 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 Ding, Friedhelm Hildebrandt

Erschienen in: Pediatric Nephrology | Ausgabe 7/2017

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Abstract

Background

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.

Methods

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.

Results

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.

Conclusions

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.

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Titel: Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome
verfasst von: 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 Ding
Friedhelm Hildebrandt
Publikationsdatum: 15.02.2017
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 7/2017
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-017-3590-y

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

Abstract

Background

Methods

Results

Conclusions

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