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Abstract Background The study aims to investigate the clinical characteristics of early postnatal period in children with prenatal hydronephrosis (HN) in our single center for 8 years. Study design The clinical data of 1137 children with prenatal HN from 2012 to 2020 were retrospectively analyzed in our center. Variables of our study mainly included different malformations and urinary tract dilation (UTD) classification, and main outcomes were recurrent hospitalization, urinary tract infection (UTI), jaundice, and surgery. Results Among the 1137 children with prenatal HN in our center, 188 cases (16.5%) were followed-up in early postnatal period, and 110 cases (58.5%) were found malformations. The incidence of recurrent hospitalization (29.8%) and UTI (72.5%) were higher in malformation, but the incidence of jaundice (46.2%) was higher in non-malformation(P

Abstract Background Congenital nephrotic syndrome (CNS) is characterised by increased proteinuria, hypoproteinemia, and edema beginning in the first 3 months of life. Recently, molecular genetic studies have identified several genes involved in the pathogenesis of CNS. A systematic investigation of the genes for CNS in China has never been performed; therefore, we conducted a mutational analysis in 12 children with CNS,with the children coming from 10 provinces and autonomous regions in China. Methods Twelve children with CNS were enrolled from 2009 to 2016. A mutational analysis was performed in six children by Sanger sequencing in eight genes (NPHS1, NPHS2, PLCE1, WT1, LAMB2, LMXIB, COQ6 and COQ2) before 2014, and whole-exome sequencing was used from 2014 to 2016 in another six children. Significant variants that were detected by next generation sequencing were confirmed by conventional Sanger sequencing in the patients’ families. Results Of the 12 children, eight patients had a compound heterozygous NPHS1 mutation, one patient had a de novo mutation in the WT1 gene, and another patient with extrarenal symptoms had a homozygous mutation in the COQ6 gene. No mutations were detected in genes NPHS2, PLCE1, LAMB2, LMXIB, and COQ2 in the 12 patients. Conclusions This study demonstrates that the majority of CNS cases (67%, 8/12 patients) are caused by genetic defects, and the NPHS1 mutation is the most common cause of CNS in Chinese patients. A mutational analysis of NPHS1 should be recommended in Chinese patients with CNS in all exons of NPHS1 and in the intron-exon boundaries.

To explore the prevalence of hematuria or proteinuria in school children in Shanghai and to evaluate the screening methods, we conducted urine screening in more than 40,000 school children between 2003 and 2005. Children were tested with dipsticks read manually (method A) or dipsticks read by machines (method B) combined with a sulfosalicylic acid test or microscopy. Some children were tested once, and others who had abnormal results in the first screening were tested again 2 weeks later. The prevalence of urine abnormalities in the first screening was more than 5.00% and of the second screening about 1.00%. Either method B or testing two urine samples for each child had higher specificity. As to the direct cost, that of screening twice with method A was lower than just screening once with method B. So using method A to screen twice for each child was not only convenient and economical, but also could reduce the false positive rate effectively. More than 10 months of follow-up diagnosed two cases of IgA nephropathy. Asymptomatic chronic renal diseases in school children could be detected through school urine screening. For Shanghai, China, screening twice using method A might be the best choice. [ABSTRACT FROM AUTHOR]