ArticlePediatric nephrology (Berlin, Germany)2021
Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease.
Article in Pediatric nephrology (Berlin, Germany), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Updated European Reference Network for rare Inherited and Congenital Digestive and Gastrointestinal Anomalies guidelines for the management of rectosigmoid Hirschsprung's disease 2025.Journal of pediatric gastroenterology and nutrition · 2026Guideline
- Review
- Genomic testing for RET in the clinic: UK and global perspective.Endocrine-related cancer · 2025Review
- Urological outcomes in adult females born with anorectal malformation or Hirschsprung disease.Pediatric surgery international · 2024Article
- A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition.Orphanet journal of rare diseases · 2023Observational
- Hirschsprung disease.Nature reviews. Disease primers · 2023Review
- Robotic surgery in Hirschsprung disease: a unicentric experience on 31 procedures.Journal of robotic surgery · 2023Article
- Patient-reported urinary outcomes in adult males with congenital colorectal conditions.Pediatric surgery international · 2022Article
- Novel somaticClinical kidney journal · 2022Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital 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.
methodsPatients 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.
resultsOut 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.
conclusionsWe 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.
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