Toll-like receptor 4 mediates vascular remodeling in hyperhomocysteinemia |
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Authors: | Anastasia Familtseva Nevena Jeremic George H. Kunkel Suresh C. Tyagi |
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Affiliation: | 1.Department of Pediatric Nephrology, Institute of Child Health and Hospital for Children,Madras Medical College,Chennai,India;2.Department of Medical Genetics,The Tamil Nadu Dr. M.G.R. Medical University,Chennai,India;3.Department of Biotechnology & Genetic Engineering, School of Biotechnology,Bharathidasan University,Tiruchirappalli,India;4.Department of Pediatric Nephrology,Dr. Mehta’s Children’s Hospital,Chennai,India |
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Abstract: | Nephrotic syndrome (NS) is a kidney disease predominantly present in children with idiopathic condition; final stage of the disease progresses into end-stage renal disease. Generally, NS is treated using standard steroid therapy, however; most of the children are steroid sensitive and about 15–20% are non-responders (SRNS). Non-responsiveness of these children would be a risk with the possibility of mutational changes in podocyte genes (NPHS1, NPHS2, WT1, PLCE1). The mutation in podocyte genes is associated with SRNS. NPHS1, NPHS2, and WT1 genes are identified/directly linked to SRNS. The present study is a surveillance on the mutation analysis of WT1 (exons 8 and 9) and NPHS2 (exons 1–8) gene in SRNS followed by clinical management. In the present study, we analyzed these two genes in a total of 117 SRNS (73 boys and 44 girls) children. A total of five mutations were detected in six children. First, WT1 mutation was detected at 9th intron-IVS 9 + 4C > T position in one SRNS female patient. This WT1 mutation was identified in a girl having Frasier Syndrome (FS) with focal segmental glomerulosclerosis and a complete sex reversal found through molecular and karyological screening. In NPHS2, missense mutations of P20L (in two children), P316S, and p.R229Q, and a frame shift mutation of 42delG were detected. Thus, applying molecular investigation helped us to decide on treatment plan of SRNS patients, mainly to avoid unnecessary immunosuppressive treatment. |
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