Oxygen glucose deprivation/re-oxygenation (OGD/R)-mediated ischemia of kidney is frequently leads to enhanced apoptosis and amplified inflammatory response. Sappanchalcone (Sap) is a flavonoid compound that extracted from Caesalpinia sappan L. with a range of cell-protective activities. Herein, we primarily reconnoitered the influence of Sap in HK-2 cells under OGD/R treatment. In this research, the consequence revealed that Sap might linked with ischemia of kidney. Besides, Sap lessened OGD/R-mediated HK-2 cell injury by boosting cell viability, inhibiting apoptosis and inflammation. In addition, Sap hindered activation of the TNFRSF1A/NF-kB signaling. Moreover, upregulation of TNFRSF1A diminished the repressive influence of Sap on OGD/R-mediated apoptosis and inflammation. In conclusion, Sap declined the OGD/R-induced HK-2 cell injury by downregulation of TNFRSF1A/NF-kB signaling, thereby offered a theoretical basis for the handling of ischemia of kidney.

Alport syndrome (AS) is a genetic kidney disease of basement membrane collagen disorder accounting for approximately 2% of ESRD patients. Next-generation and whole-exome sequencing methods are increasingly frequently used as an efficient tool not only for the diagnosis of AS but also for the establishment of genotype–phenotype correlation. We herein report the identification of a novel heterozygous missense mutation in COL4A3 gene (c.G3566A: p.G1189E) causing variable phenotypes in an ADAS Family based on the combination of clinical, histologic, pedigree, and genetic sequencing information. The proband is a 48-year-old Chinese woman suffering from persistent subnephrotic proteinuria and intermittent hematuria without renal function impairment over a 10-year time-span. Renal biopsy showed diffuse thin basement membrane and focal interstitial foam cell infiltration. The proband’s mother progressed to end-stage renal failure and the proband’s sister presented with subnephrotic proteinuria and intermittent hematuria as well. AS was highly suspected and confirmed by exome sequencing which revealed a novel heterozygous missense mutation in COL4A3 gene (c.G3566A: p.G1189E) in all the affected family members, although their current medical conditions vary significantly. Our present finding emphasizes the significance of next-generation sequencing technology for genetic screening which gives us an accurate clinical diagnosis of ADAS patients. The identification of c.G3566A as a new ADAS-related mutation contributes to both genetic diagnosis of ADAS and further functional study of COL4A3. The variable phenotypes from the same genotype of our case also provide more information to genotype–phenotype correlation study.