Publications by authors named "J P Schanstra"
Background: There are proposed roles for inflammation in the development of congenital obstructive uropathy in the setting of posterior urethral valves (PUV). However, the value of inflammatory proteins as predictive markers of postnatal kidney function, key in the management of fetuses with PUV, has not been explored. We screened fetal urine of fetuses with PUV with a panel of inflammatory proteins to determine their predictive value of postnatal kidney function.
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- - CAKUT (Congenital Anomalies of the Kidney and Urinary Tract) is a major cause of chronic kidney diseases in both children and adults, with its development influenced by genetic and environmental factors, though the exact mechanisms remain unclear.
- - Researchers analyzed the omics data (miRNome, peptidome, and proteome) from over 30 amniotic fluid samples of patients with varying severity of CAKUT, making this data FAIR for better integration with external resources.
- - Using bioinformatics, the study highlighted the significance of collagen and the PI3K-AKT signaling pathway in CAKUT, identifying key genes and microRNAs, and developed workflows that can be used for studying other rare
Article Synopsis
- - The study focuses on the impact of Hepatocyte Nuclear Factor 1-beta (HNF1B) gene variants and chromosome 17q12 deletion (17q12del) on kidney disease progression, particularly chronic kidney disease (CKD), in a large cohort of 521 patients.
- - Findings reveal that patients with the 17q12del experience a significant delay in the progression to CKD stage 3 compared to those with other HNF1B variants, with specific mutations in the DNA-binding domains correlating with even better outcomes.
- - Additionally, the 17q12del is linked to lower magnesium levels (hypomagnesemia) and higher likelihood of elevated uric acid levels (hyperuric
Background And Hypothesis: Congenital anomalies of the kidney and the urinary tract (CAKUT), often discovered in utero, cover a wide spectrum of outcomes ranging from normal postnatal kidney function to fetal death. The current ultrasound workup does not allow for an accurate assessment of the outcome. The present study aimed to significantly improve the ultrasound-based prediction of postnatal kidney survival in CAKUT.
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