Abstract

Congenital anomalies of the kidneys and urinary tract (CAKUT) are found in 3-6 out of 1000 of the newborns or according to some statistics they are represented in 0.5% of all pregnancies. Congenital abnormalities of the kidneys and urinary tract present a family of diseases of various anatomic spectrums, including renal anomalies, and anomalies of the bladder and urethra. This paper is motivated from the awareness that so far in Macedonia there has been no major or serious study prepared in relation to congenital kidney and urinary tract anomalies. The study was retrospective – prospective which means that it included newly diagnosed patients suffering from CAKUT, as well as those patients with already diagnosed and well defined CAKUT on the basis of imaging studies which have been processed according to the protocol for this study. A series of 749 pediatric patients with diagnosed congenital anomaly of the kidneys and urinary tract (CAKUT) has been analyzed at the Pediatric Clinic in the period from 2010 until 2015. In 25% CAKUT has been detected by prenatal ultrasound screening. The molecular diagnosis of patients with renal hypo dysplasia and renal agenesis can be achieved with copy number variation analysis in 10% of the patients. With this study we created a database of patients with syndromic and non-syndromic CAKUT, identified an unambiguous existence of the genetic factor through the familial ultrasound screening and existence of extrarenal abnormalities, thus enabling participation in future multicentric studies.