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

Pini Prato A, Rossi V, Mosconi M, Holm C, Lantieri F, Griseri P, Ceccherini I, Mavilio D, Jasonni V, Tuo G, Derchi M, Marasini M, Magnano G, Granata C, Ghiggeri G, Priolo E, Sposetti L, Porcu A, Buffa P, Mattioli G - Orphanet J Rare Dis (2013)

Bottom Line: The percentage did not significantly differ according to gender or length of aganglionosis.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pediatric Surgery, Istituto Giannina Gaslini, Largo G, Gaslini, 5, 16100 Genoa, Italy. alessiopiniprato@ospedale-gaslini.ge.it.

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.

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Proposed diagnostic workup for patients with a reliable diagnosis of Hirschsprung’s disease. Algorithm changes according to the present of sure or suspected chromosomal abnormalities.
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Figure 1: Proposed diagnostic workup for patients with a reliable diagnosis of Hirschsprung’s disease. Algorithm changes according to the present of sure or suspected chromosomal abnormalities.

Mentions: It is evident that the implementation of a prospective multicentre research project is warranted. In fact, a larger series of patients could increase the strength of the results and possibly confirm the cost-effectiveness of this proposed diagnostic algorithm for a significant change in clinical practice for HSCR management (Figure 1).


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

Pini Prato A, Rossi V, Mosconi M, Holm C, Lantieri F, Griseri P, Ceccherini I, Mavilio D, Jasonni V, Tuo G, Derchi M, Marasini M, Magnano G, Granata C, Ghiggeri G, Priolo E, Sposetti L, Porcu A, Buffa P, Mattioli G - Orphanet J Rare Dis (2013)

Proposed diagnostic workup for patients with a reliable diagnosis of Hirschsprung’s disease. Algorithm changes according to the present of sure or suspected chromosomal abnormalities.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4222065&req=5

Figure 1: Proposed diagnostic workup for patients with a reliable diagnosis of Hirschsprung’s disease. Algorithm changes according to the present of sure or suspected chromosomal abnormalities.
Mentions: It is evident that the implementation of a prospective multicentre research project is warranted. In fact, a larger series of patients could increase the strength of the results and possibly confirm the cost-effectiveness of this proposed diagnostic algorithm for a significant change in clinical practice for HSCR management (Figure 1).

Bottom Line: The percentage did not significantly differ according to gender or length of aganglionosis.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pediatric Surgery, Istituto Giannina Gaslini, Largo G, Gaslini, 5, 16100 Genoa, Italy. alessiopiniprato@ospedale-gaslini.ge.it.

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.

Show MeSH
Related in: MedlinePlus