Publications by authors named "Yi-nv Gong"
Background: Primary vesicoureteral reflux (VUR) is a common congenital anomaly of the kidney and urinary tract (CAKUT) in childhood. The present study identified the possible genetic contributions to primary VUR in children.
Methods: Patients with primary VUR were enrolled and analysed based on a national multi-center registration network (Chinese Children Genetic Kidney Disease Database, CCGKDD) that covered 23 different provinces/regions in China from 2014 to 2019.
Article Synopsis
- This study examined the impact of various risk factors on the loss of residual renal function (RRF) in children undergoing automated peritoneal dialysis (APD), particularly focusing on those treated between January 2008 and December 2016.
- The research included 66 children who had a baseline urine volume of at least 100 ml/m and tracked their RRF over at least 12 months of APD therapy.
- Results indicated that 43.9% of the children experienced RRF loss after a year, with factors such as low initial urine volume, high glucose exposure, and high ultrafiltration volume increasing the risk, while diuretic use was linked to better preservation of RRF.
Background: Primary hyperoxaluria type 1 is a rare autosomal recessive disease of glyoxylate metabolism caused by a defect in the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT) that leads to hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis.
Methods: Two unrelated patients with recurrent urolithiasis, along with members of their families, exhibited mutations in the AGXT gene by PCR direct sequencing.
Results: Two heterozygous mutations that predict truncated proteins, p.