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Application of whole exome sequencing in childhood refractory nephrotic syndrome and novel discovery of gene mutation

Application of whole exome sequencing in childhood refractory nephrotic syndrome and novel discovery of gene mutation

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR1800015997
Enrollment
Unknown
Registered
2018-05-05
Start date
2019-01-01
Completion date
Unknown
Last updated
2018-05-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Primary Nephrotic Syndrome

Interventions

Case series:NA

Sponsors

Children's Hospital of Chongqing Medical University
Lead Sponsor

Eligibility

Sex/Gender
All
Age
No minimum to 18 Years

Inclusion criteria

Inclusion criteria: 1) children with refractory nephrotic syndrome with obvious family history of heredity, primary nephrotic syndrome diagnostic criteria: massive proteinuria: 24h proteinuria or morning urine protein / creatinine (mg/mg) more than 2.0,1 weeks 3 morning urine protein qualitative (+ + + + + +); hypoalbuminemia: serum albumin lower than 25g/L; hyperlipidemia: Serum gallbladder Sterol is higher than 5.7mmol/L; edema in varying degrees. In the above 4 items, 1 and 2 are the necessary conditions for the diagnosis. Hormone sensitive NS: pretreated with prednisone with 2mg/ (kg.d) or 60mg/ (m2.d) for 4 weeks. Hormone resistant NS: with prednisone full treatment for more than 4 weeks of urinary protein still positive, it is divided into primary and late drug resistance, the latter refers to hormone therapy for more than 4 weeks after 1 or multiple remission. Hormone dependent NS: hormone sensitive, but two times reduction or withdrawal within 2 weeks; 2) the negative result of gene detection for renal related diseases.

Exclusion criteria

Exclusion criteria: Elimination of chronic kidney disease caused by secondary factors such as purpura, lupus, hepatitis B and diabetes mellitus.

Design outcomes

Primary

MeasureTime frame
whole exome sequencing;

Countries

China

Contacts

Public ContactQiu Li

Children's Hospital of Chongqing Medical University

liqiu809@126.com+86 15215150041

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026