congenital anomalies of kidney and urinary tract 1

Congenital anomalies of kidney and urinary tract 1 is a condition characterized by developmental abnormalities affecting the kidneys and urinary tract that are present from birth. The disorder is caused by a mutation in the DSTYK gene, which plays a role in developmental signaling pathways. It is typically identified in infancy or early childhood when anatomical anomalies are detected. Although precise prevalence data is not available, the condition is recognized as an important contributor to congenital kidney and urinary tract malformations.

Individuals with this condition may present with a range of kidney and urinary tract anomalies. Characteristic clinical features include renal hypoplasia, stage 5 chronic kidney disease, vesicoureteral reflux, unilateral renal agenesis, and ureteropelvic junction obstruction, each observed in varying frequencies. Many affected individuals are diagnosed after presenting with signs of impaired kidney function or urinary tract issues, and there can be a progressive decline in renal function over time in some cases. Not all individuals experience all features, and severity varies considerably.

The condition is caused by a pathogenic variant in the DSTYK gene, which is critical for normal kidney and urinary tract formation. It follows an autosomal dominant pattern of inheritance, meaning that having one copy of the altered gene can lead to the condition. Because the clinical presentation can vary even within the same family, not all individuals who inherit the mutation display the same severity of symptoms. These differences in expressivity emphasize the importance of genetic counseling for affected families so they can understand potential recurrence risks and variability in outcomes. Associated genes include DSTYK.