Background
Nephrotic syndrome is characterized by proteinuria, hyperlipidemia, and edema. The annual incidence of nephrotic syndrome is 2–7 cases/100,000 children.
Methods and results
The present study included 32 control, 32 steroid-sensitive nephrotic syndrome cases, and 32 steroid-resistant nephrotic syndrome cases aged ≤ 17 years. Serum samples were handled to check serum albumin, creatinine, calcium, and total cholesterol in SSNS and SRNS. Pearson’s correlation test was performed to investigate the relationship between the parameters. The independent sample t-test was done to compare the mean differences between two parameters by SPSS (Statistical Package for the Social Sciences). We found a significant positive correlation in SSNS in serum albumin, creatinine, calcium, and total cholesterol. In SRNS, we did not find a correlation between serum calcium and total cholesterol.
Conclusions
The combination of serum albumin, creatinine, and total cholesterol with serum calcium improves the diagnostic sensitivity of SSNS and SRNS. Thus, serum calcium may be used as an equivalent marker in the early diagnosis and treatment of nephrotic syndrome in children.
Objective: Nephrotic syndrome defines as a disorder with a group of symptoms like proteinuria, hypoalbuminemia, hyperlipidemia, and edema. PMM2 encodes phosphomannosemutase protein enzyme involved in the synthesis of N-glycan. Methods: Different Insilico analysis tools: SIFT, PolyPhen, PROVEAN, SNPandGO, MetaSNP, PhDSNP, MutPred, I-Mutant, STRUM, PROCHECK-Ramachandran, COACH and ConSurf, were used to check the effect of nsSNP on protein structure and function. Results: The genetic polymorphism in the PMM2 gene was retrieved from NCBI ClinVar and UniProtKB. Total 20 SNPs were predicted most significant and responsible for disease-causing and decrease protein stability. Conclusion: This study helps to discover disease-causing deleterious SNPs with different computational tools and gives information about potent SNPs.
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