GENETIC APPROACH IN THE DIAGNOSIS OF CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT

Abstract

Congenital anomalies of the kidney and urinary tract represent a wide range of malformations that result from inadequate embryonic development and can often present as part of a syndrome. Although the aetiology of anomalies appears to be multifactoral in the majority of cases, a small proportion can be associated with monogenic or chromosomic variation, such as mutations in a specific gene or chromosome. A higher diagnostic yield of genetic testing is associated with severe anomalies affecting both renal parenchymas, a family history of kidney disease, and the presence of extrarenal features. Next-generation sequencing is increasingly being recognized as an important method in diagnosing congenital anomalies of the kidney and urinary tract. When there are concomitant multiple congenital malformations, development delay and/or dysmorphic features, microarray based genetic testing is advised.

Keywords

• congenital anomalies of the kidney and urinary tract
• genetic testing
• next-generation sequencing