Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital colorectal innervation defects were evaluated by studying 3699 colonic mucosal biopsy specimens obtained from 773 patients over a 5-year period (1986-1991). In 358 cases (46.3%) a classifiable defect was present, with aganglionosis in 187 of these patients (52.2%) and hypoganglionosis of the colon in 18 (5.0%). Hypoplastic or aplastic sympathetic innervation (type-A neuronal intestinal dysplasia was found in 2.2% (n = 8) and dysplasia of the parasympathetic submucous plexus (type-B neuronal intestinal dysplasia) in 40.6% (n = 145) of the patients with classifiable defects. Identification of a specific innervation defect was not possible in 229 of the 773 patients (29.6%), 28% of whom exhibited slight dysplasia and 30% immaturity or hypogenesis of the submucous plexus. In 40% of the unclassifiable cases heterotopic nerve cells were found in the muscularis mucosae and/or lamina propria mucosae, while 2% had severe heterotopia with the cells of the myenteric plexus completely displaced into the circular and/or longitudinal muscle layers. These patients generally suffered from severe chronic constipation requiring surgical intervention. Four congenital innervation defects of the colorectum can thus be clearly differentiated at present: aganglionosis (in its various forms), hypoganglionosis, type-A neuronal intestinal dysplasia, and type-B neuronal intestinal dysplasia.
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PMID:Epidemiology of congenital innervation defects of the distal colon. 154 6

Congenital aganglionosis or Hirschsprung's disease (HD) characteristically presents with involvement of the sigmoid colon and rectum. There is an associated increase in cholinergic and adrenergic innervation in the affected bowel wall. Diagnosis of HD in the neonatal period is readily achieved via submucosal rectal biopsy with recognition of the immaturity of ganglion cells within the first year of life, use of a standardized protocol, and supplemental acetylcholinesterase stain. Morbidity and mortality from HD occur caused by Hirschsprung's-associated enterocolitis (HAEC); the pathologist can alert the clinician to the presence of HAEC. The HD variant to be aware of is total colonic aganglionosis, which may lack hypertrophic nerves and increased cholinergic nerve endings and contain zonal areas of some ganglion cells. Pseudo HD includes intestinal neuronal dysplasia (IND), chronic idiopathic intestinal pseudo obstruction (CIIP), and chronic constipation in children. Intestinal neuronal dysplasia is characterized by hyperganglionosis, whereas CIIP and chronic constipation in children share a common, newly described myopathic pathology. In this review investigation into peptidergic (VIPergic) innervation in pseudo HD and HD shows increased VIPergic immunostaining in CIIP, chronic constipation, and the ganglionic portion of HD; however, the VIPergic pattern is not diagnostically selective. Until the advent of new molecular biological techniques, histopathology remains the diagnostic gold standard in HD.
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PMID:Aganglionosis and related disorders. 795 58