Urinary tract abnormalities (UTA) and associated malformations: Data of the Emilia-Romagna Registry
Urinary tract abnormalities (UTA) and associated malformations: Data of the Emilia-Romagna Registry
复制标题
尿路异常 (UTA) 和相关畸形：艾米利亚-罗马涅登记处的数据
DOI：
10.1007/bf00144002
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发表时间：
1996
影响因子：
13.6
通讯作者：
Imer Group
中科院分区：
文献类型：
--
作者：
G. Cocchi;C. Magnani;M. Morini;G. Garani;M. Milan;E. Calzolari;Imer Group
对1981-1990年间监测的209,882例连续出生的新生儿进行了埃米利亚-罗马尼亚先天性畸形登记处(IMER)确诊的与其他先天性畸形或综合征相关的尿路畸形(UTA)流行病学研究。对349例新生儿进行了UTA检查，其出生率为16.6/万，或每600例新生儿中有1例UTA。在监测的十年间，空腹交通事故的发生率显著上升，从1981年至1982年的6.1‰上升到1990年的25.1‰(r=0.85p&0.001)。这一增加与UTA孤立病例的通报逐渐增加有关，这与产前诊断的影响直接相关。在349例中，106例(30.4%)与其他疾病有关，其中18例有染色体异常(CHRA)。在登记的儿童中，发病率为每1000人中有43.6人。遗传综合征(GS)33例，特异率为150/1,000；多胎55例，特异率为205.2/1000。在多次研究中，我们观察到尿酸与肠道缺陷和严重的耳朵缺陷(p<；0.001)以及中枢神经系统和心脏缺陷(p<；0.05)的优先相关性。UTA通常与其他肾外缺陷有关，有时是难以识别的综合征的一个组成部分，对其遗传影响很大，必须进行遗传咨询。儿科医生需要意识到肾脏可能参与特殊和罕见的综合征，儿科肾科医生必须认识到肾脏疾病与其他生理系统异常的关联。
An epidemiological study on the urinary tract anomalies (UTA) associated 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 presented. UTA were ascertained in 349 infants for a rate at birth of 16.6 per 10,000 total births, or one case for every 600 births. The occurrence rate of UTA increased significantly during the ten years of monitoring 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%) were associated with other conditions, including 18 who had chromosomal aberrations (ChrA). The incidence in the total number of the ChrA registered was 43.6 per 1,000. Genetic syndromes (GS) in 33 cases with a specific rate of 150 per 1,000; and 55 cases of multiples with a specific 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 which genetic implications are great and genetic counselling necessary. Pediatricians need to be aware of the possible involvement of the kidney in specific and rare syndromes, and pediatric nephrologists must recognize the association of renal diseases with abnormalities in other physiological systems.