Posterior urethral valve in thai boys

Abstract Background Posterior urethral valve (PUV) is the most common congenital bladder outlet obstruction in boys, causing renal damage beginning in utero. There are scarce data from Thailand regarding the long-term outcomes of PUV in boys, thus the aim of this study was to examine the presentation, clinical course, complications, outcomes and renal survival in PUV boys. Methods We reviewed the medical records of PUV boys treated at the Pediatric Nephrology Clinic, Prince of Songkla University, Thailand, over a 30-year-period. Results Seventy-seven PUV boys were identified, with a median age at diagnosis of 4.8 months. The most common presentations were urinary tract infection (UTI), poor urine stream and urinary dribbling in 26 (33.8%), 19 (24.7%) and 11 (14.3%) boys, respectively. Renal ultrasound results in 70 boys showed 8 (11.4%) unilateral and 56 (80%) bilateral hydronephroses. Of 72 voiding cystourethrograms, 18 (25.0%) showed unilateral and 22 (30.6%) bilateral vesicoureteral refluxes. 99mTc dimercaptosuccinic acid renal scans in 30 boys showed 12 (40%) unilateral and 8 (26.7%) bilateral renal damage. Fifty-nine (76.6%) boys had 149 UTIs; 42 (54.4%) had recurrent UTI. Forty-eight boys had valve ablation at the median age of 30.3 months. 22 boys (28.6%) developed chronic kidney disease (CKD) at a median age of 15.0 years. Conclusion Of 77 PUV Thai boys, UTI was the most common presentation. Recurrence of UTI and CKD was the most common consequence. Lifelong follow-up for renal and bladder functions is essential for all PUV patients

Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional independent risk loci. But the genetic architecture of pSSNS, and its genetically driven pathobiology, is largely unknown. Here, we conduct a multi-population GWAS meta-analysis in 38,463 participants (2440 cases). We then conduct conditional analyses and population specific GWAS. We discover twelve significant associations—eight from the multi-population meta-analysis (four novel), two from the multi-population conditional analysis (one novel), and two additional novel loci from the European meta-analysis. Fine-mapping implicates specific amino acid haplotypes in HLA-DQA1 and HLA-DQB1 driving the HLA Class II risk locus. Non-HLA loci colocalize with eQTLs of monocytes and numerous T-cell subsets in independent datasets. Colocalization with kidney eQTLs is lacking but overlap with kidney cell open chromatin suggests an uncharacterized disease mechanism in kidney cells. A polygenic risk score (PRS) associates with earlier disease onset. Altogether, these discoveries expand our knowledge of pSSNS genetic architecture across populations and provide cell-specific insights into its molecular drivers. Evaluating these associations in additional cohorts will refine our understanding of population specificity, heterogeneity, and clinical and molecular associations