Hirschsprung’s disease

Hirschsprung s disease have ETB receptor mutations). The lack of ET-3/ETB receptor results in the absence of parasympathic ganglionic neurons in the myenteric plexus (Auerbach). Mice with an ET-3/ETB receptor disruption die within 2 weeks after birth. In transgenic mice, in which the expression of the ETB receptor is driven by the dopamine (3-hydroxylase promoter, normal myenteric plexus are present and no enteric disorder develops. These mice, however, show a salt-sensitive hypertension, which can be efficiently treated with amiloride, indicating that ETB receptors are involved in the regulation of natriuresis via the amilorid-sensitive sodium channel ENaC. 

Defecatory or rectal evacuation disorders (e.g., Hirschsprung s disease, pelvic floor dyssynergia)... 

Hirschsprung s disease A disease of the small intestine that causes constipation (bowel movements are difficult). 

Enteric Neuropathies. Different kinds of familial visceral neuropathies have been described the dominant type 1 [134], the recessive type 2 [135] and a recessive form with calcified basal ganglia [134], Furthermore, aganglionosis of the small bowel (Hirschsprung s disease) [136], hypergan-glionosis (neurofibromatosis) [137], neuronal intestinal dysplasia [138] and Parkinson s disease [139] are neuropathies to consider. The recognition of the pacemaker cells of the small bowel, the interstitial cells of Cajal, has prompted studies to detect abnormalities of these cells, another possible cause of pseudoobstruction [140],... 

Diseases selectively targeting spinal cord and brainstem motor neurons (e.g. amyotrophic lateral sclerosis and the familial spinal muscular atrophies) or the presynaptic component of neuromuscular junctions (e.g. Lambert-Eaton syndrome, botulism and Ixodes tick paralysis) cause weakness without sensory impairment. Disorders involving the enteric nervous system (e.g. Chagas disease and Hirschsprung s disease) impair bowel motility. 

Irritable bowel syndrome, diverticulitis, upper and lower GI tract diseases, hemorrhoids, anal fissures, ulcerative proctitis, tumors, hernia, volvulus of the bowel, syphilis, tuberculosis, lymphogranuloma venereum, Hirschsprung s disease. 

Endothelin-P Mutations Associated with Hirschsprung s Disease... 

Brooks A, O. B. H. R. (2005) Studying the genetics of Hirschsprung s disease unraveling an oligogenic disorder. Clin. Genet. 67, 6-14. 

Fuchs, S., Amiel, J., Claudel, S., Lyonnet, S., Corvol, P., and Pinet, F. (2001) Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung s disease evidence for selective loss of G(i) coupling. Mol. Med. 7, 115-124. 

Note Constipation may be defined as the passage of excessively dry stools, infrequent stools, or stools of insufficient size. Constipation is a symptom and not a disease. It may be of brief duration (e.g., when one s living habits or diet change abruptly), or it may be a hfe-long problem, as occurs in congenital aganglionosis of the colon (Hirschsprung s disease). 

Neurologic diseases Hirschsprung s disease Spinal cord injuries and disease Parkinson s disease... 

Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagtisawa M, Chakravarti A. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung s disease. Cell 1994 79 1257-1266. 

C. Eng. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung s disease. Seminars in medicine of the Beth Israel Hospital, Boston. NEn J Med, 335 (13), 943-951, 1996. 

RET is a human protoonco ne which encodes the RET receptor. There are two forms of receptors with tyrosinekinase activity. They are orphan receptors with unknown ligands. Oncogenic variants are found which are constitutively phosphorylated on tyrosines and form homo-and heterodimers. These variants have been found in endocrine disorders, MEN, and in Hirschsprung s disease. 

Martucciello, G. (2008). Hirschsprung s disease, one of the most difficult diagnoses in pediatric surgery a review of the problems from clinical practice to the bench. Eur. J. Pediatr. Surg. 18 140-9. 

A 6-year-old girl with Hirschsprung s disease had jeju-nostomy at 1 month followed by parenteral nutrition (47). Her calcium intake was 1-1.5 mmol/kg/day. Her urinary calcium rose from 3 months of age her serum calcium concentrations remained within the reference range but started to rise when she was 3-4 years old. At 5-6 years of age she showed growth retardation and deteriorating renal tubular function with bilateral... 

Martucciello G, Ceccherini I, Lerone M et al (2000) Pathogenesis of Hirschsprung s disease. J Pediatr Surg 35 1017-1025... 

MacKenzie JM, Dixon MF. An immunohistochemical study of the enteric neural plexi in Hirschsprung s disease. Histopathol-ogy. 1987 11 1055-1066. 

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