Recent Advances in Congenital Anomalies of the Kidneys and Urinary Tract (CAKUT)

Dear Colleagues,

Congenital anomalies of the kidneys and urinary tract (CAKUT) are common malformations and may produce variable kidney damage, which, in some cases, leads to end-stage renal disease (ESRD). CAKUT constitute a frequent cause of birth defects (approximately three to six per 1000 live births). CAKUT may occur either as an isolated condition or as part of a syndromic disorder. CAKUT account for 20%–30% of congenital malformations and produce about 40% of cases of ESRD within the first three decades of life. Monogenic mutations are responsible of CAKUT in 10–15 % of cases; new genetic studies, including whole-exome sequencing, provide an etiologic diagnosis for many patients. Hereditary cystic kidney diseases comprise a complex group of genetic disorders including autosomal recessive polycystic kidney disease, neph-ronophthisis, Bardet–Biedl syndrome, and hepatocyte nuclear factor-1beta nephropathy; progress in the molecular understanding of hereditary cystic kidney diseases has been made in recent years. Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure in adults, but it is well known that the disease course begins in childhood; however, we ignore how to manage and approach children diagnosed with or at risk of ADPKD. Vesicoureteral reflux (VUR) is defined as the retrograde movement of urine from the bladder into the ureter(s); several studies published in the past ten years have questioned the traditional diagnostic and therapeutic recommendations of VUR. Children may present with a solitary functioning kidney (SFK) as a consequence of a congenital non-functioning kidney, or after nephrectomy, SFK may lead to renal injury that may end in end-stage renal disease (ESRD). According to the hyperfiltration hypothesis, an SFK may lead to glomerular damage with hypertension, albuminuria, and progression towards end-stage renal disease, but other factors may play a role.

Prof. Dr. Velibor Tasic
Prof. Dr. Marcin Tkaczyk
Dr. Silvio Maringhini
Guest Editors

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• genetics of CAKUT
• prenatal diagnosis and fetal surgery in CAKUT
• single kidney—long-term consequences for children and adolescents
• ADPKD in childhood and adolescence
• vesicoureteral reflux (VUR) and kidney disease
• progression of renal disease in CAKUT