title: A prospective observational study of associated anomalies in Hirschsprung's disease.
abstract: BACKGROUND
  Associated anomalies have been reported in around 20% of Hirschsprung patients but many Authors suggested a measure of underestimation. We therefore implemented a prospective observational study on 106 consecutive HSCR patients aimed at defining the percentage of associated anomalies and implementing a personalized and up-to-date diagnostic algorithm.
  
  
  METHODS
  After Institutional Ethical Committee approval, 106 consecutive Hirschsprung patients admitted to our Institution between January 2010 and December 2012 were included. All families were asked to sign a specific Informed Consent form and in case of acceptance each patient underwent an advanced diagnostic algorithm, including renal ultrasound scan (US), cardiologic assessment with cardiac US, cerebral US, audiometry, ENT and ophthalmologic assessments plus further specialist evaluations based on specific clinical features.
  
  
  RESULTS
  Male to female ratio of our series of patients was 3,4:1. Aganglionosis was confined to the rectosigmoid colon (classic forms) in 74,5% of cases. We detected 112 associated anomalies in 61 (57,5%) patients. The percentage did not significantly differ according to gender or length of aganglionosis. Overall, 43,4% of patients complained ophthalmologic issues (mostly refraction anomalies), 9,4% visual impairment, 20,7% congenital anomalies of the kidney and urinary tract, 4,7% congenital heart disease, 4,7% hearing impairment or deafness, 2,3% central nervous system anomalies, 8,5% chromosomal abnormalities or syndromes and 12,3% other associated anomalies.
  
  
  CONCLUSIONS
  Our study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as hearing impairment and congenital anomalies of the kidney and urinary tract. Subsequently, based on our results we strongly suggest performing renal US and audiometry in all patients. Conversely, ophthalmologic assessment and cerebral and heart US can be performed according to guidelines applied to the general population or in case of patients with suspected clinical features or chromosomal abnormalities. This updated diagnostic algorithm aims at improving overall outcome thanks to better prognostic expectations, prevention strategies and early rehabilitation modalities. The investigation of genetic background of patients with associated anomalies might be the next step to explore this intriguing multifactorial congenital disease.
authors.affiliation: Department of Pediatric Surgery, Istituto Giannina Gaslini, Largo G, Gaslini, 5, 16100 Genoa, Italy. alessiopiniprato@ospedale-gaslini.ge.it.
authors.forename: Alessio
authors.initials: A
authors.lastname: Pini Prato
authors.forename: Valentina
authors.initials: V
authors.lastname: Rossi
authors.forename: Manuela
authors.initials: M
authors.lastname: Mosconi
authors.forename: Catarina
authors.initials: C
authors.lastname: Holm
authors.forename: Francesca
authors.initials: F
authors.lastname: Lantieri
authors.forename: Paola
authors.initials: P
authors.lastname: Griseri
authors.forename: Isabella
authors.initials: I
authors.lastname: Ceccherini
authors.forename: Domenico
authors.initials: D
authors.lastname: Mavilio
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Jasonni
authors.forename: Giulia
authors.initials: G
authors.lastname: Tuo
authors.forename: Maria
authors.initials: M
authors.lastname: Derchi
authors.forename: Maurizio
authors.initials: M
authors.lastname: Marasini
authors.forename: Gianmichele
authors.initials: G
authors.lastname: Magnano
authors.forename: Claudio
authors.initials: C
authors.lastname: Granata
authors.forename: Gianmarco
authors.initials: G
authors.lastname: Ghiggeri
authors.forename: Enrico
authors.initials: E
authors.lastname: Priolo
authors.forename: Lorenza
authors.initials: L
authors.lastname: Sposetti
authors.forename: Adelina
authors.initials: A
authors.lastname: Porcu
authors.forename: Piero
authors.initials: P
authors.lastname: Buffa
authors.forename: Girolamo
authors.initials: G
authors.lastname: Mattioli
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D011446:Prospective Studies; D055815:Young Adult