ABSTRACT
Objective To study the correlation between VDR gene polymorphism and the transformation of bone markers in children with nephrotic syndrome and to observe whether active intervention treatment of vitamin D with nephrotic syndrome is influenced by VDR gene polymorphism. Methods We used polymerase chain reaction restriction fragment length polymorphism (PCR- RFLP) technology to detect the VDR genotypes of 70 children with nephrotic syndrome (one group received hormone for 2 weeks and the other received no hormone therapy) . Then we detected bone metabolism index among patients with nephrotic syndrome and 30 normal children (control group) and compared the index between the two groups with and without hormone therapy.We divided 70 children with nephrotic syndrome into the AA+Aa genotype group and the aa genotype group to study the difference between various genotypes of bone metabolism indexes. After retesting bone metabolism index of those children receiving the same dose of calcitriol therapy after 2 weeks, we divided them into three groups AA genotype, Aa genotype and aa genotype to detect the changes of bone metabolism index in different genotypes.Results (1) The calcitonin and serum phosphorus of children with AA+Aa genotype were significantly lower than those of childrenwith aa genotype (P＜ 0.05);25 (OH) D3 of children with aa genotype was significantly lower than that of ones with Aa + Aa genotype (P＜ 0.05) . (2) The changes of bone metabolism index in children with nephrotic syndrome after receiving the same dose of calcitriol for 2 weeks: the calcitonin and 25 (OH) D3 in AA+Aa genotype group were significantly higher after treatment (P＜0.05) .Conclusions Vitamin D receptor gene ApaⅠpolymorphism may be a genetic susceptibility factors affecting bone metabolic abnormalities. AA and Aa genotype may be a protective factor of bone metabolic abnormalities.The AA+Aa genetype of Vitamin D receptor gene ApaⅠpolymorphism response to treatment of calcitriol is positive.
ABSTRACT
Background & Objectives: It has been noted that certain factors like diet, malnutrition, genetic traits etc., are known to alter the frequency and severity of lipid pattern. The Indian patient has a different dietary, constitutional and genetic background. Hence, we undertook a study to determine the spectrum of lipid abnormalities in children with nephrotic syndrome. An attempt was also made to correlate the degree of proteinuria and hypoproteinemia, with the rise in serum lipid values in cases of nephrotic syndrome. Methods: Twenty cases of Nephrotic Syndrome, 7 age and sex matched controls were studied. The samples were analysed for Protein profile and Lipid Profile. Lipid profile was measured 8-10 days after treatment of Nephrotic syndrome with initial levels measured within 24 hours of admission to the hospital. Results: There was a significant increase in Total cholesterol, LDLC, VLDL, Non-HDLC, serum phospholipids and triglycerides levels in Nephrotic syndrome patients when compared to normal controls (P<0.0001). There was significant decrease in Total protein, serum albumin and HDL-C in Nephrotic patients when compared to Controls. There was a significant difference between the initial and follow-up Lipid profile levels in these patients (p <0.001). Interpretation & Conclusion: Our study concludes that, in nephrotic syndrome, there is generalized hyperlipidemia (except HDL) and hypoalbuminemia. The serum cholesterol level in first episode nephrotic syndrome reaches normal at the end of steroid therapy. Hence there is a rationale for treatment.