ESPN 51th Annual Meeting

ESPN 2018


 
NPHS2 gene mutations in Azerbaijan children with steroid-resistant nephrotic syndrome
RAUF BAYLAROV 1 ÖZGÜR ŞENOL 2 MERVE ATAN 2 AFİG BERDELİ 2

1- AZERBAIJAN STATE MEDICAL UNIVERSITY PEDATRIC DEPARTMENT, PEDIATRIC NEPHROLOGY DIVISION BAKU-AZERBAIJAN
2- EGE UNIVERSITY MEDICAL FACULTY PEDIATRIC DEPARTMENT MOLECULAR MEDICINE LABORATORY.IZMIR-TURKIYE
 
Introduction:

Nephrotic syndrome is the commonest etiology of proteinuria in children. Steroid-resistant nephrotic syndrome (SRNS) is defined by resistance to standard steroid therapy, and it continues to be one of the most persistent etiologies of  chronic renal failure. Molecular studies discovered specialized molecules in podocytes different regions that play a role in proteinuria. Mutations in NPHS2 that encodes for podocin constitute a frequent cause of SRNS worldwide. This study aimed to screen for podocin mutations in Azerbaijan SRNS  patients.

Material and methods:

Our study included patients from 10 unrelated Egyptian families diagnosed with SRNS. Our study included 21 pediatric patients with steroid resistant NS between 0-18 years of age and the same number of healthy control groups were included.  Mutational analysis of the NPHS2 gene was performed by Sanger direct sequencing methods.

Results:

Disease causing mutations in the NPHS2 gene were detected in 8 (38%) patients . 13 (62%) patients have without diseae causing NPHS2 mutations . Two patients had  Val290Met homozygous mutation, two Arg229Gln homozygous mutations, one Pro20Leu homozygote, one Leu169Pro homozygote, one Arg138Gln homozygote and one Arg168His homozygous mutation.  . When we compared the NPHS2 mutation status with the disease progression, there was  significant increase in serum creatinine, proteinuria and serum albumin values of NPHS2 gene mutations compared to the group without mutation (p <0,05).Disease progression were significantly higher in patients with R168H;L169P and R138H mutation compared with other mutations with detected in this study group.

Conclusions:

Our study concludes that mutations of the NPHS2 gene (38%)are heterogeneous in Azerbaijan  SRNS patients. Based on our results, we support a model in which ethnicity plays an important role in certain NPHS2 mutations. NPHS2 mutation analysis may help to better predict the course of the disease, remove unnecessary long-term immunosuppressive therapy, and develop specific therapeutic interventions for future mutations.