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. 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 in a cohort of 280 consecutive patients with Hirschsprung disease

Alessio Pini Prato  1 , Rossella Arnoldi  2 , Ilaria Falconi  2 , Maria Pia Dusio  2 , Isabella Ceccherini  3 , Augusta Tentori  2 , Enrico Felici  2 , Paolo Nozza  2
Affiliations

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

Alessio Pini Prato et al. Pediatr Nephrol. 2021 Oct.

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.

Keywords: CAKUT; Genotype; Hirschsprung; Outcome; Phenotype.

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References

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