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09.04.2021 | Original Article

Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease

verfasst von: Alessio Pini Prato, Rossella Arnoldi, Ilaria Falconi, Maria Pia Dusio, Isabella Ceccherini, Augusta Tentori, Enrico Felici, Paolo Nozza

Erschienen in: Pediatric Nephrology | Ausgabe 10/2021

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Abstract

Background

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.

Methods

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.

Results

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.

Conclusions

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.

Graphical abstract

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Titel: Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease
verfasst von: Alessio Pini Prato
Rossella Arnoldi
Ilaria Falconi
Maria Pia Dusio
Isabella Ceccherini
Augusta Tentori
Enrico Felici
Paolo Nozza
Publikationsdatum: 09.04.2021
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 10/2021
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-021-05061-4

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Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease

Abstract

Background

Methods

Results

Conclusions

Graphical abstract

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Abstract

Background

Methods

Results

Conclusions

Graphical abstract

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