- Intestinal neuronal dysplasia
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Intestinal neuronal dysplasia Classification and external resources OMIM 243180 601223 Intestinal neuronal dysplasia (or neuronal intestinal dysplasia or NID) is an inherited disease of the intestine that effects one in 3000 children and adults. The intestine uses peristalsis to push its contents toward the anus; IND sufferers have a problem with the motor neurons that lead to the intestine, inhibiting this process and thus preventing digestion.
It can often be confused for Hirschsprung's disease, as both have similar symptoms.[1]
It can be grouped into NID A and NID B, with the "A" form affecting the sympathetic innervation, and the "B" version affecting the parasympathetic innervation.[2][3]
Treatment
Conservative treatment involves the long term use of laxatives and enemas, and has limited success. Dietary changes in order to control the disease are ineffective and high fiber diets often worsen the symptoms in children. As a last resort, surgical treatment (internal sphincter myectomy or colon resection) is used.[4] In extreme cases, the only effective cure is a complete transplant of the affected parts. The threat of IND is such that, even though it is relatively rare, all new born babies are kept in hospital until they defecate.
Notable cases
A famous case of IND is that of Adele Chapman, who had a triple transplant of the small intestine, pancreas and liver, the first of its kind in the UK; therefore the official charity of IND is the Adele Chapman Foundation.
References
- ^ Mahesha V, Saikia UN, Shubha AV, Rao KL (February 2008). "Intestinal neuronal dysplasia of the myenteric plexus--new entity in humans?". Eur J Pediatr Surg 18 (1): 59–60. doi:10.1055/s-2008-1038324. PMID 18302074. http://www.thieme-connect.com/DOI/DOI?10.1055/s-2008-1038324.
- ^ Fadda B, Maier WA, Meier-Ruge W, Schärli A, Daum R (October 1983). "[Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis]" (in German). Z Kinderchir 38 (5): 305–11. doi:10.1055/s-2008-1059994. PMID 6649903.
- ^ Barone V, Weber D, Luo Y, Brancolini V, Devoto M, Romeo G (March 1996). "Exclusion of linkage between RET and neuronal intestinal dysplasia type B". Am. J. Med. Genet. 62 (2): 195–8. doi:10.1002/(SICI)1096-8628(19960315)62:2<195::AID-AJMG15>3.0.CO;2-J. PMID 8882403.
- ^ Gillick J, Tazawa H, Puri P (May 2001). "Intestinal neuronal dysplasia: results of treatment in 33 patients". J. Pediatr. Surg. 36 (5): 777–9. doi:10.1053/jpsu.2001.22959. PMID 11329588. http://linkinghub.elsevier.com/retrieve/pii/S0022-3468(01)35062-5.
Categories:- GI tract disorders
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