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Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome
- Source :
- Pediatric Nephrology. 32:1181-1192
- Publication Year :
- 2017
- Publisher :
- Springer Science and Business Media LLC, 2017.
-
Abstract
- 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.
- Subjects :
- Male
0301 basic medicine
Nephrology
China
Pediatrics
medicine.medical_specialty
Nephrotic Syndrome
Adolescent
DNA Mutational Analysis
Drug Resistance
Mutation, Missense
030232 urology & nephrology
Article
Cohort Studies
03 medical and health sciences
0302 clinical medicine
Asian People
Internal medicine
TRPC6 Cation Channel
medicine
Humans
Genetic Predisposition to Disease
Genetic Testing
Age of Onset
Child
WT1 Proteins
Glucocorticoids
business.industry
Homozygote
Infant, Newborn
Intracellular Signaling Peptides and Proteins
High-Throughput Nucleotide Sequencing
Infant
Membrane Proteins
Sequence Analysis, DNA
medicine.disease
Steroid-resistant nephrotic syndrome
Genetic screening test
Proteinuria
030104 developmental biology
Child, Preschool
Pediatrics, Perinatology and Child Health
Female
business
Protein Kinases
Nephrotic syndrome
Subjects
Details
- ISSN :
- 1432198X and 0931041X
- Volume :
- 32
- Database :
- OpenAIRE
- Journal :
- Pediatric Nephrology
- Accession number :
- edsair.doi.dedup.....fdff53ceae449301f5554a2f4862d235