Perinatal Otopsilerde Üriner Sistem Anomalileri ve Eşlik Eden Böbrek Dışı Anomaliler

Abstract

Pediatric developmental and genetic renal anomalies are a known cause of mortality in the perinatal/neonatal period. These anomalies are associated with a wide range of extrarenal congenital malformations that influence the outcome of patients. For this purpose, we reviewed the perinatal autopsies performed at Hacettepe University Faculty of Medicine Pediatric and Perinatal Pathology Unit, from January 2000 to December 2012. We analyzed the incidence of congenital urinary system anomalies, correlation between prenatal ultrasound findings and postmortem autopsy findings, chromosomal test results, the spectrum of developmental and genetic renal lesions and associated congenital malformations. A total of 1412 perinatal autopsies were evaluated and 113 cases (8,0%) with urinary system anomalies were found. These 113 cases were grouped as developmental (89 cases) and genetic renal anomalies (24 cases). There was a male predominance and the age range was from 13 weeks of gestation to 1 month of life. Renal agenesis was the commonest developmental renal anomaly. It was followed by renal dysplasia, congenital hydronephrosis, renal hypoplasia, renal ectopia and horseshoe kidney anomaly. Autosomal recessive polycystic kidney disease was the commonest genetic lesion. Others were Meckel-Gruber syndrome, Joubert syndrome, Fryns syndrome, Zellweger syndrome and trisomy 13 and 18. Ductal plate malformation seen in liver was found in autosomal recessive polycystic kidney disease, as well as in other syndromic cases such as Meckel-Gruber syndrome, Joubert syndrome, renal-hepatic-pancreatic dysplasia and glutaric aciduria type II. We found a good correlation between the prenatal ultrasound and autopsy results in 51,3% of the cases. Chromosomal abnormality (trisomy 13, trisomy 18, unbalanced translocation, Turner syndrome) was detected in 9 of the cases (8%). They were associated with renal agenesis, renal dysplasia and horseshoe kidney. Associated congenital malformations were seen in 95,5% of the cases. So a thorough search for them is mandatory. The role of fetal autopsy remains very important in order to clearly identify some other associated anomalies in terminated fetuses due to urinary system malformations.