Hofmann Alejandro D, Duess Johannes W, Puri Prem
National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
Pediatr Surg Int. 2014 Aug;30(8):757-61. doi: 10.1007/s00383-014-3529-3. Epub 2014 Jun 29.
Congenital anomalies of the kidney and urinary tract (CAKUT), a term introduced in the late 1990 s accounts for 30-50 % of cases of end-stage renal disease in children. The association of urogenital anomalies and Hirschsprung's disease (HSCR) based on the common genetic background of enteric nervous system and human urinary tract development has been well described in the literature. However, the reported prevalence of HSCR associated with CAKUT seems to be underestimated. The aim of this systematic review was to determine the prevalence of this association and show its relationship to other syndromes.
A systematic literature search was conducted for relevant articles published between 1955 and 2014. Two online databases were searched for the terms "Hirschsprung's disease", "congenital anomalies of the kidney and urinary tract", "urogenital anomalies" and "urological anomalies". All published studies containing adequate clinical data were included. Resulting publications were reviewed for epidemiology, genetic testing, operative treatment and morbidity. Reference lists were screened for additional cases.
A total of 32 articles reported 222 cases of HSCR associated with either CAKUT, "urological" or "urogenital" anomalies from 1955 to 2014. Gender was reported in a total of 68 cases, with 54 (79 %) males and 14 (21 %) females. Extent of aganglionosis was reported in 67 cases and included classical rectosigmoid disease in 38, long-segment aganglionosis in 12, total colonic aganglionosis in 12 and total intestinal aganglionosis in 5 patients. 18 articles reported 204 cases of either CAKUT, "urological" or "urogenital" anomalies in a case series of 5.693 HSCR patients, resulting in an overall prevalence of 3.6 % of this association. Within this collective of 18 studies only seven were, regardless of the date of publication compatible with CAKUT criteria introduced and published in the late 1990 s. These seven studies reported a total of 72 patients with associated CAKUT among 757 HSCR patients resulting in a prevalence of 9.5 %. After introduction of the CAKUT acronym, only three studies specifically investigated the association of HSCR and CAKUT stating a prevalence of 14.3 % resulting in an almost fivefold increase compared to the reported prevalence of HSCR and associated urological and urogenital anomalies. The remaining 14 publications reported 18 single cases of HSCR patients with associated CAKUT phenotypes. Of these 18 cases, 11 (61 %) cases were associated with other syndromes or syndromatic features or reported chromosomal anomalies.
This review confirms that the recognition of CAKUT in HSCR patients has been underestimated in the past. The results suggest that when confronted with HSCR in a patient, a thorough urological investigation may be indicated. The high prevalence of associated syndromes in HSCR with CAKUT may further suggest a syndromic association.
先天性肾和尿路畸形（CAKUT）这一术语于20世纪90年代末提出，占儿童终末期肾病病例的30 - 50%。基于肠神经系统和人类尿路发育的共同遗传背景，泌尿生殖系统畸形与先天性巨结肠病（HSCR）之间的关联在文献中已有充分描述。然而，与CAKUT相关的HSCR报道患病率似乎被低估了。本系统评价的目的是确定这种关联的患病率，并显示其与其他综合征的关系。
对1955年至2014年发表的相关文章进行系统文献检索。在两个在线数据库中搜索“先天性巨结肠病”“先天性肾和尿路畸形”“泌尿生殖系统畸形”和“泌尿系统畸形”等术语。纳入所有包含充分临床数据的已发表研究。对所得出版物进行流行病学、基因检测、手术治疗和发病率方面的综述。筛查参考文献列表以获取更多病例。
共有32篇文章报道了1955年至2014年期间222例与CAKUT、“泌尿系统”或“泌尿生殖系统”畸形相关的HSCR病例。共68例报道了性别，其中男性54例（79%），女性14例（21%）。67例报道了无神经节细胞症的范围，包括38例经典型直肠乙状结肠疾病、12例长段无神经节细胞症、12例全结肠无神经节细胞症和5例全肠无神经节细胞症患者。18篇文章在5693例HSCR患者的病例系列中报道了204例CAKUT、“泌尿系统”或“泌尿生殖系统”畸形，该关联的总体患病率为3.6%。在这18项研究中，只有7项研究（无论发表日期）符合20世纪90年代末引入并发表的CAKUT标准。这7项研究在757例HSCR患者中共报道了72例伴有CAKUT，患病率为9.5%。在引入CAKUT这一缩写词后，只有3项研究专门调查了HSCR与CAKUT的关联，患病率为14.3%，与报道的HSCR及相关泌尿系统和泌尿生殖系统畸形的患病率相比增加了近五倍。其余14篇出版物报道了18例伴有CAKUT表型的HSCR患者的单个病例。在这18例病例中，11例（61%）与其他综合征或综合征特征相关或报道了染色体异常。
本综述证实过去对HSCR患者中CAKUT的认识被低估了。结果表明，当面对一名患有HSCR的患者时，可能需要进行全面的泌尿系统检查。HSCR合并CAKUT时相关综合征的高患病率可能进一步提示存在综合征关联。
