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Autonomic dysfunction in children with Hirschsprung's disease.
A Staiano1, L Santoro, R De Marco
1Department of Pediatrics, Neurophysiopathology, and Ophthalmology, University Federico II, Naples, Italy.
Digestive Diseases and Sciences
|May 11, 1999
Summary
Hirschsprung's disease patients often have autonomic nervous system dysfunction. This study found that some children with Hirschsprung's disease exhibit measurable sympathetic and parasympathetic nervous system impairments.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- The Ret (proto-oncogene tyrosine kinase) and Endothelin B Receptor (Ednrb) pathways, involving GDNF and endothelin-3 ligands, are crucial for neural crest cell development.
- Mutations in RET and GDNF are linked to neurocristopathies like Hirschsprung's disease, affecting enteric and sympathetic nervous system formation.
Purpose of the Study:
- To evaluate autonomic nervous system function in children diagnosed with Hirschsprung's disease.
- To investigate the prevalence and types of autonomic dysfunction in this patient cohort.
Main Methods:
- Pupillary and cardiovascular testing were employed to assess sympathetic adrenergic, sympathetic cholinergic, and cardiovagal cholinergic functions.
- Seventeen children with Hirschsprung's disease and 19 age- and sex-matched controls participated in the study.
Main Results:
- Seven out of 17 patients (41%) with Hirschsprung's disease demonstrated autonomic dysfunction.
- Dysfunctions included sympathetic denervation (3 patients), parasympathetic dysfunction (2 patients), and combined sympathetic and parasympathetic dysfunction (2 patients).
- A RET mutation was identified in one patient with autonomic dysfunction.
Conclusions:
- A significant subset of patients with Hirschsprung's disease exhibits measurable autonomic dysfunction.
- Autonomic dysfunction in these patients, similar to enteric ganglion cell absence, may stem from polygenic factors.
- Further research is warranted to elucidate the genetic underpinnings of autonomic dysfunction in Hirschsprung's disease.