ESPN 51th Annual Meeting

ESPN 2018


 
Childhood onset nephrotic syndrome with heterozygous mutation in NPHS1 gene: three cases and review of the literature
BAHRIYE ATMIS 1 ANIL ATMIS 2 O─×UZHAN YARALI 3 PELIN ESMERAY 2 ATILLA GEMICI 1

1- ERZURUM REGION TRAINING AND RESEARCH HOSPITAL,DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- ERZURUM REGION TRAINING AND RESEARCH HOSPITAL,DEPARTMENT OF PEDIATRICS
3- ERZURUM REGION TRAINING AND RESEARCH HOSPITAL,DEPARTMENT OF MEDICAL GENETICS
 
Introduction:

 Mutations in NPHS1 gene, which encodes nephrin, cause congenital nephrotic syndrome of Finnish type within the first 3 months of life. 

Material and methods:

 Herein,  we reported three patients who had idiopathic nephrotic syndrome with heterozygous mutation in NPHS1 gene at the age of 2,4 and 10 years old, respectively.

Results:

 First patient was 2 years old boy, presented with edema, hypoalbuminemia and proteinuria. He diagnosed with nephrotic syndrome and started steroid treatment. Genetic counseling was requested because the patient had down syndrome stigmats. The heterozygous p.T294I(c.881C>T)  mutation in the NPHS1 gene and normal NPHS2,WT1 genes were detected in the genetic analysis. He enter in  remission within four weeks after starting steroid treatment and continued tapering of the steroid and discontinued within 4 months. After 2 months following discontinuation of the steroid he was relapsed. Second patient was 3 years old boy, he had steroid resistant nephrotic syndrome. His renal biopsy showed that focal segmental glomerulosclerosis. The heterozygous mutation p.E117K(c.349 G>A) in NPHS1 gene and normal NPHS2, WT1 genes were detected. He is still in remission with cyclosporine treatment. Third patient was 10 years old and had steroid resistant nephrotic syndrome. His renal biopsy showed that focal segmental glomerulosclerosis. The heterozygous mutation p.N10778(c.3230 A>G) in NPHS1 gene and normal NPHS2,WT1 genes were detected. He did not achive the remission with cyclosporine treatment.

Conclusions:

  The childhood-onset and even adult-onset SRNS may rarely carry NPHS1 mutations. Three cases with heterozygous mutation in the NPHS1 gene, normal NPHS2 gene and different clinical course were. These genetic mutations may be responsible for SRNS and we presented three cases by reviewing the literature.