CAKUT in Children and Adolescents: Towards Better Understanding of Impact and Risk Reduction

Congenital anomalies of kidney and urinary tract (CAKUT) are common congenital malformations that are among the leading causes of end-stage kidney disease (ESKD) in the pediatric population. CAKUT is a very broad and diverse entity ranging from mild asymptomatic congenital anomalies to complex cases associated with significant health burden. CAKUT may be present as a sole congenital malformation or be a part of a genetic syndrome affecting other organ systems. Genetic abnormalities are expected to play a relatively important role in the development of CAKUT, but genetic background remains largely unknown in majority of cases. Long-term relevance of CAKUT is based on its potential effects on kidney function and the associated risk of developing chronic kidney disease (CKD) or arterial hypertension and subsequently early cardiovascular disease.

CAKUT represents a significant health, socioeconomic and psychological burden to patients, their parents and the health system. The goal of this Research Topic is to explore current advances in the understanding of molecular basis of CAKUT, advances and strategies in risk stratification with regards to relevant complications (kidney injury, cardiovascular disease) and potential preventive approaches. Thus, the collection would cover the genetic background and additional value of metabolomic studies in patients with CAKUT, identification of biomarkers that would aid in the detection and risk prediction of kidney damage, development of CKD and cardiovascular comorbidity. Additionally, strategies to reduce the risk of CAKUT complications, such as UTI, would be explored, along with their relevance for the long-term kidney health. The collection would put additional focus on the more frequent congenital anomalies, such as vesicoureteral reflux (VUR), hydronephrosis and posterior urethral valves (PUV), solitary functioning kidney (SFK) and kidney dysplasia.

The primary scope of the collection is to provide novel information on strategies for better risk stratification of patients with CAKUT, including the use of traditional routine clinical parameters, novel biomarkers (urine or blood), and omics data. Research should encompass outcomes related to long-term morbidity, such as the risk of kidney damage, development of CKD or ESKD and cardiovascular disease. In addition, data related to the genetic basis of CAKUT and the role of genetics in predicting long-term risks, as well as strategies to stratify and/or reduce risk of other relevant complications of CAKUT, such UTI, could be covered.