ESPN 53rd Annual Meeting

ESPN 2021


 
Frequently Relapsing Nephrotic Syndrome in a -11-year old boy with heterozygosity for two variants in NPHS1 gene.
MARTINE DOCX 1 SEGERS NATHALIE 1 VANDE JOHAN 2

1- DEPARTMENT OF CHRONIC PAEDIATRIC DISEASES AND NEPHROLOGY QUEEN PAOLA CHILDRENS HOSPITAL ANTWERP BELGIUM
2- DEPARTMENT OF PAEDIATRIC NEPHROLOGY AND RHEUMATOLOGY UNIVERSITY HOSPITAL GHENT BELGIUM
 
Abstract:

 Objectives: An international research collaboration recently found that NPHS1 is also known as disease-susceptibility gene for steroid-sensitive nephrotic syndrome. Mutations in NPHS1 gene could occur in both SRNS and SSNS patients.

Methods: We report on a 11-year old Surinamese-Creole male patient who presented since the age of 2 11/12 years with a steroid sensitive frequently relapsing nephrotic syndrome (SSFRNS). Kidney biopsy showed minimal change disease (MCD). He was treated first with the classical schedule steroids with tapering. After a steroid-free period of 6 months he developed 4 flares, for which cyclosporine was added . He remained without relapses for 2 years. Then frequent relapses were seen on tapering off his medication. Rituximab was started. Patient remained in remission for 14 months and then 2 flare-ups occurred each time after a viral infection. Steroids and cyclosporine were restarted. A second rituximab treatment was given at the age of 10 with subsequent tapering of steroids and retention of cyclosporine. Currently: (GFR: 101.9 ml/min/1.73 m²), no hematuria, normal C3 and C4.

Results: Because of the SSFRN a genetic study was carried out. A heterozygosity was found for 2 variants in NPHS1: c.2734 G>A(p.(Ala912Thr)) and c.1747 G>A(p.(Gluc583Lys)).

Conclusions: The association of these variants has been previously reported as novel and potentially pathogenic  variants by Bierzynska A. et al in 2017. Variations in heterozygous variants are not adequate to make structural damage and so are manifested with a milder phenotype. To conclude it is advisable to perform a genetic analysis, especially in SRNS, in familial cases of NS, but also in SSFRNS like in our case.