URINARY-TRACT ABNORMALITIES (UTA) AND ASSOCIATED MALFORMATIONS - DATAOF THE EMILIA-ROMAGNA REGISTRY

An epidemiological study on the urinary tract anomalies (UTA) associat ed with other congenital malformations or syndromes ascertained by the Emilia-Romagna Registry on Congenital Malformations (IMER) among 209, 882 consecutive births monitored during the period 1981-1990 is presen ted. UTA were ascertained in 349 infants for a rate at birth of 16.6 p er 10,000 total births, or one case for every 600 births. The occurren ce rate of UTA increased significantly during the ten years of monitor ing passing from 6.1 per 10,000 in 1981-1982 to 25.1 in 1989-1990 (r = 0.85; p < 0.001). This increase is in connection with a progressively higher notification of isolated cases of UTA, directly related to the impact of the prenatal diagnosis. Among the 349 cases, 106 (30.4%) we re associated with other conditions, including 18 who had chromosomal aberrations (ChrA). The incidence in the total number of the ChrA regi stered was 43.6 per 1,000. Genetic syndromes (GS) in 33 cases with a s pecific rate of 150 per 1,000, and 55 cases of multiples with a specif ic rate of 205.2 per 1,000. In multiples we observed some preferential associations of UTA with intestinal defects and severe ear defects (p < 0.001) and for Central Nervous System and heart defects (p < 0.05). UTA are often associated with other extrarenal defects and sometimes are a component of syndromes that are difficult to identify and for wh ich genetic implications are great and genetic counselling necessary. Pediatricians need to be aware of the possible involvement of the kidn ey in specific and rare syndromes, and pediatric nephrologists must re cognize the association of renal diseases with abnormalities in other physiological systems.