Pediatric Surgery, Umberto Bosio Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e Cesare Arrigo, Alessandria, EU, Italy.
IRCCS Giannina Gaslini Institute, Genoa, EU, Italy.
Pediatr Nephrol. 2021 Oct;36(10):3151-3158. doi: 10.1007/s00467-021-05061-4. Epub 2021 Apr 9.
Congenital anomalies of the kidney and urinary tract (CAKUT) have been underestimated in Hirschsprung disease (HSCR). This paper aims at reporting results of patients with HSCR who underwent kidney and urinary tract assessment.
Patients seen between December 2005 and November 2020 underwent a complete kidney and urinary tract diagnostic workup. Data regarding CAKUT, gender, length of aganglionosis, familial history, HSCR-associated enterocolitis (HAEC), RET genotype, and outcome were collected.
Out of 472 patients, 280 completed the workup and represented the focus. Male to female ratio was 3.24:1. Familial cases accounted for 9.8% of patients. RET mutations were detected in 19.8%. We encountered a total of 61 patients with 70 nephrological issues (21.8%), including 28 hypoplasia/dysplasia, 12 hydronephrosis, 11 vesicoureteric reflux, 7 duplex collecting system, 2 kidney agenesis, 2 horseshoe kidney, and 8 miscellanea, involving 91 kidneys without side preponderance (50 right, 41 left). Of these 61 patients, 20 (7.1% of the whole series) required medical or surgical treatment. When comparing patients with and without CAKUT, familial history proved to occur with a significantly lower frequency in the former as did better patient perspectives of outcome.
We confirmed that all diagnostic workups in HSCR should include a complete kidney and urinary tract diagnostic workup. Our study suggests that genes other than RET could play a role in determining CAKUT. Given worse patient perspectives of outcome, CAKUT seems to significantly interfere with quality of life thus confirming the need for early diagnosis and tailored prevention strategies.
先天性肾和尿路异常（CAKUT）在先天性巨结肠（HSCR）中被低估。本文旨在报告接受 HSCR 治疗的患者的肾脏和泌尿系统评估结果。
2005 年 12 月至 2020 年 11 月期间就诊的患者接受了完整的肾脏和泌尿系统诊断性检查。收集了有关 CAKUT、性别、无神经节细胞长度、家族史、HSCR 相关结肠炎（HAEC）、RET 基因型和结果的数据。
472 例患者中，280 例完成了检查，成为研究对象。男女比例为 3.24:1。家族病例占患者的 9.8%。检测到 19.8%的 RET 突变。我们共发现 61 例患者存在 70 例肾脏问题（21.8%），包括 28 例发育不良/发育不全、12 例肾积水、11 例输尿管反流、7 例双肾盂收集系统、2 例肾发育不全、2 例马蹄肾和 8 例杂项，涉及 91 个无侧优势的肾脏（50 个右侧，41 个左侧）。在这 61 例患者中，有 20 例（整个系列的 7.1%）需要药物或手术治疗。在比较有和无 CAKUT 的患者时，家族史在前者中发生的频率明显较低，而后者的预后更好。
我们证实，所有的 HSCR 诊断都应包括完整的肾脏和泌尿系统诊断性检查。我们的研究表明，除了 RET 之外，其他基因也可能在决定 CAKUT 中发挥作用。鉴于患者的预后较差，CAKUT 似乎严重影响生活质量，从而证实了早期诊断和针对性预防策略的必要性。
