Katja Jarc Georgiev
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Matjaž Kopač
Klinični oddelek za nefrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Sara Bertok
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

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.

Key words: congenital anomalies of the kidney and urinary tract, genetic testing, next-generation sequencing