Nephrotic Syndrome in a Child With NPHS2 Mutation
Ross Tollaksen1, Randall D Craver2, Ihor V Yosypiv1
1Departments of Pediatrics, Section of Pediatric Nephrology, Tulane University Health Sciences Center, New Orleans, LA, USA.
Summary
Early genetic testing for steroid-resistant nephrotic syndrome (SRNS) in children is crucial. Identifying NPHS2 gene variants avoids unnecessary immunosuppression and guides appropriate treatment for this kidney disease.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
Background:
- Steroid-resistant nephrotic syndrome (SRNS) affects 30% of pediatric nephrotic syndrome (NS) cases, often progressing to end-stage kidney disease (ESKD).
- Approximately 30% of pediatric SRNS cases are linked to mutations in podocyte-associated genes, highlighting the role of genetics.
Observation:
- A 2-year-old boy presented with NS unresponsive to steroids, exhibiting mesangial proliferative glomerulopathy and basement membrane dysmorphism on biopsy.
- Genetic analysis revealed a homozygous pathogenic NPHS2 variant (c.413G>A, p.Arg138Gln), a known founder mutation in European populations.
Findings:
- The patient was diagnosed with autosomal-recessive nonsyndromic SRNS due to the NPHS2 variant.
- Treatment was adjusted by discontinuing immunosuppressants, increasing lisinopril, and initiating albumin/furosemide infusions for edema management.
Implications:
- Early genetic testing in pediatric SRNS prevents prolonged, potentially harmful immunosuppressive therapy.
- Genetic diagnosis facilitates timely family counseling and earlier planning for kidney transplantation, improving patient outcomes.
Keywords:
NPHS2 gene variantchildrengene mutationkidney biopsynephrotic syndromesteroid resistant nephrotic syndromeMore Related Videos
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