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

• Published in: Pediatric nephrology (Berlin, West) Vol. 36; no. 10; pp. 3151 - 3158
• Main Authors: Pini Prato, Alessio, Arnoldi, Rossella, Falconi, Ilaria, Dusio, Maria Pia, Ceccherini, Isabella, Tentori, Augusta, Felici, Enrico, Nozza, Paolo
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.10.2021; Springer; Springer Nature B.V
• Subjects: Abnormalities; Congenital defects; Congenital diseases; Dysplasia; Enterocolitis; Female; Genotypes; Hirschsprung Disease - diagnosis; Hirschsprung Disease - genetics; Hirschsprung's disease; Humans; Hypoplasia; Kidney - abnormalities; Kidneys; Male; Medicine; Medicine & Public Health; Nephrology; Original Article; Patients; Pediatrics; Physiological aspects; Quality of Life; Urinary organs; Urinary Tract; Urogenital Abnormalities - epidemiology; Urogenital Abnormalities - genetics; Urogenital system; Urology; Vesico-Ureteral Reflux; Italy; Genotype; CAKUT; Phenotype; Outcome; Hirschsprung
• ISSN: 0931-041X; 1432-198X
• DOI: 10.1007/s00467-021-05061-4

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