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Additional anomalies in Hirschsprung's disease: an analysis based on the nationwide survey in Japan
Insights
Hirschsprung's disease patients often have other health issues, like Down syndrome and heart problems. Longer disease segments correlate with more anomalies and higher mortality rates in these patients.
Area of Science:
- Pediatric Surgery
- Medical Genetics
- Developmental Biology
Background:
- Hirschsprung's disease is a congenital condition affecting the large intestine.
- Associated anomalies can significantly impact patient outcomes.
- Nationwide data on anomaly incidence in Hirschsprung's disease is crucial for understanding disease burden.
Purpose of the Study:
- To determine the incidence and types of additional anomalies in patients with Hirschsprung's disease.
- To investigate the relationship between the length of the aganglionic segment and the presence of anomalies.
- To compare mortality rates between patients with and without additional anomalies.
Main Methods:
- Analysis of a nationwide survey data of 1628 Hirschsprung's disease cases.
- Categorization and quantification of associated congenital anomalies.
- Statistical comparison of anomaly incidence and mortality rates.
Main Results:
- 11.1% of Hirschsprung's disease cases (181/1628) had additional anomalies.
- Down syndrome (2.9%) and cardiac anomalies (2.5%) were more frequent than in the general population.
- Longer aganglionic segments were associated with a higher incidence of anomalies, while megacystis and megaureter were less common.
Conclusions:
- Hirschsprung's disease is frequently associated with other congenital anomalies, impacting patient prognosis.
- The incidence of specific anomalies like Down syndrome and cardiac defects is elevated.
- Increased mortality is observed in Hirschsprung's disease patients with co-occurring anomalies.
Abstract:
A total number of 1628 cases with Hirschsprung's disease were collected in a nationwide survey; 181 of the cases had additional anomalies. The overall incidence of additional anomalies was 11.1% (181/1628). Down's syndrome and cardiac anomalies occurred in 2.9% and 2.5%, respectively: A greater incidence than seen in the general population. The longer the aganglionic segment, the higher the incidence of additional anomalies. Megacystis and megaureter were less common. Intestinal atresia and stenosis were seen in 15 patients, the rate being 0.9%. The overall mortality in patients with additional anomalies was higher at 17.7% (32/181) than in those without.