Nephrotic Syndrome in a Child with R138Q NPHS2 Mutation
- Pediatric Nephrology - II
November 03, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Pediatric Nephrology
- 1900 Pediatric Nephrology
- Tollaksen, Ross A., Tulane University School of Medicine, New Orleans, Louisiana, United States
- Yosypiv, Ihor V., Tulane University School of Medicine, New Orleans, Louisiana, United States
Steroid resistant nephrotic syndrome (SRNS) accounts for 30% of all cases of nephrotic syndrome (NS) in children and frequently leads to end stage kidney disease (ESKD). 30% of children with SRNS demonstrate identifiable causative mutations in podocyte-associated genes. Early identification of genetic forms of SRNS is critical to avoid potentially harmful immunosuppressive therapy.
A 2-year-old male patient with NS (plasma creatinine of 0.7 mg/dL, serum albumin of 0.6 g/dL, urine protein/creatinine ratio of 18.0 mg/mg) and negative family history of renal disease did not respond to 4-week steroid treatment. Infectious and immune workup for secondary NS was negative. Kidney biopsy showed mesangial proliferative glomerulonephritis, focal membranoproliferative pattern, global glomerulosclerosis (3/50), mild interstitial fibrosis, foot process fusion and basement membrane dysmorphism. Tacrolimus and lisinopril were added to therapy pending results of genetic testing. Genetic panel showed NPHS2 c.413G>A (p.Arg138Gln) homozygous pathogenic variant. A diagnosis of autosomal-recessive form of nonsyndromic SRNS due to NPHS2 causative variant was made. Immunosuppressive therapy was stopped, lisinopril dose was increased and weekly infusions of albumin/furosemide were initiated to manage edema.
A diagnosis of SRNS due to NPHS2 causative variant was made. Immunosuppressive therapy was stopped, and lisinopril dose was increased. Weekly infusions of albumin/furosemide were initiated to manage edema and prevent complications from hypoalbuminemia. The patient is being managed expectantly until a time when a kidney transplant is necessary. This case demonstrates the importance of early genetic testing in children with SRNS to avoid prolonged potentially harmful immunosuppressive therapy, provide timely genetic family counseling and discuss considerations for future living related donor kidney transplantation.