A prospective observational study of associated anomalies in Hirschsprung's disease.

[hirschsprung disease]

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 .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 .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 .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 .

Diseases
Validation

Diseases presenting "heart disease" symptom

22q11.2 deletion syndrome

achondroplasia

acute rheumatic fever

adrenal incidentaloma

child syndrome

classical phenylketonuria

cohen syndrome

congenital diaphragmatic hernia

dentinogenesis imperfecta

esophageal adenocarcinoma

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

omenn syndrome

phenylketonuria

sneddon syndrome

systemic capillary leak syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

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