Congenital urinary tract obstruction (diagnosed antenatally by ultrasound screening) is one of the main causes of end-stage kidney disease in children. The extent of kidney injury in early gestation and the resultant abnormality in kidney development determine fetal outcome and postnatal renal function. Unfortunately, the current approach to diagnostic evaluation of the severity of injury has inherently poor diagnostic and prognostic value because it is based on the assessment of fetal tubular function from fetal urine samples rather than on estimates of the dysplastic changes in the injured developing kidney. To improve the outcome in children with congenital urinary tract obstruction, new biomarkers reflecting these structural changes are needed. Genomic and proteomic techniques that have emerged in the past decade can help identify the key genes and proteins from biological fluids, including amniotic fluid, that might reflect the extent of injury to the developing kidney.
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http://dx.doi.org/10.1038/pr.2012.113 | DOI Listing |
J Med Genet
December 2024
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
Introduction: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. However, its significant phenotypic heterogeneity often delays the diagnosis. Here, we undertake the first comprehensive characterisation of NBCCS and congenital urinary tract anomalies.
View Article and Find Full Text PDFCureus
November 2024
Pediatrics, Kagoshima University Hospital, Kagoshima, JPN.
Background Children with Down syndrome (DS) often have hypoplastic kidneys and urinary tract malformations that increase their renal dysfunction risk. They also have a higher congenital heart disease (CHD) rate, requiring cardiac surgery during infancy. Renal dysfunction in such patients may be associated with the development of cardiac surgery-associated acute kidney injury (CS-AKI), but this remains unclear.
View Article and Find Full Text PDFTurk J Med Sci
December 2024
Department of Medical Genetics, Faculty of Medicine, Başkent University, Ankara, Turkiye.
Background/aim: Congenital anomalies of the kidney and urinary tract (CAKUT) are characterized by renal developmental disorders in the embryonic period. STAT3 is a member of the STAT protein family. The members of this protein family play roles in various cellular mechanisms, such as the early stages of embryonic development, kidney development, and renal diseases.
View Article and Find Full Text PDFJ Pediatr Urol
December 2024
Department of Urology, Gaziosmanpasa Training and Research Hospital, Istanbul, Türkiye.
Introduction: Posterior urethral valve (PUV) is a congenital condition marked by obstructing persistent urogenital membrane, leading to urinary tract infections, bladder dysfunction, and kidney damage. It affects males only, mostly suspected antenatally and confirmed in early infancy. It requires early diagnosis and intervention to prevent long-term complications.
View Article and Find Full Text PDFJAMA Pediatr
December 2024
Department of Pharmacy, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
Importance: Gestational exposure to nonsteroidal anti-inflammatory drugs (NSAIDs) may increase the risk of adverse fetal kidney outcomes. However, details regarding timing, specific NSAIDs, and long-term childhood kidney outcomes are limited.
Objective: To evaluate the association between gestational exposure to NSAIDs and the risk of chronic kidney disease (CKD) in childhood.
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