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Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes.
Semin Pediatr Surg. 1998 Aug; 7(3):156-61.SP

Abstract

Despite significant advances in understanding the genetic background in Hirschsprung's disease (HD), the majority of cases are believed to be multigenic and multifactorial. Conditions associated with an increased risk of HD suggest some common inherited factor and include Down's syndrome, Waardenburg syndrome (WS), dominant sensorineural deafness, neurofibromatosis, neuroblastoma, phaechromocytoma, the MEN type 2B syndrome, and other abnormalities. The reported incidence of Down's syndrome in HD is approximately 2%, but the range varies from 2% to 15%. WS, on the other hand, is one of a number of uncommon human conditions in which pigmentary disturbances are associated with sensorineural deafness. HD mutations have been mapped to a number of genes, i.e., RET proto-oncogene, at 10q11.2; the recessive EDNRB gene, located at 13q22; its ligand endothelin 3 (EDN3); and the glial cell line-derived neurotrophic factor (GDNF) in humans. Mutations of known genes appear to account for only a relatively small number of HD cases (20% in the case of RET). GDNF may modulate the disease phenotype by interacting with other susceptibility loci (e.g., RET). The genetic aspects of HD occurring in association with trisomy 21 and WS are reviewed. Clinical presentation, diagnosis, treatment and long-term outcome in this patient group are evaluated. Additional data are presented on 12 children with Down's syndrome out of 408 surgically treated HD patients. The role of associated anomalies is evaluated, and an increased susceptibility to severe enterocolitis associated with a high mortality rate is reported. Surgical correction can be achieved, but patients may require some form of ongoing help to facilitate acceptable bowel function. The decision as to the nature and timing of the surgical correction must be individualized.

Authors+Show Affiliations

Department of Paediatric Surgery, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.No affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

9718653

Citation

Moore, S W., and A G. Johnson. "Hirschsprung's Disease: Genetic and Functional Associations of Down's and Waardenburg Syndromes." Seminars in Pediatric Surgery, vol. 7, no. 3, 1998, pp. 156-61.
Moore SW, Johnson AG. Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes. Semin Pediatr Surg. 1998;7(3):156-61.
Moore, S. W., & Johnson, A. G. (1998). Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes. Seminars in Pediatric Surgery, 7(3), 156-61.
Moore SW, Johnson AG. Hirschsprung's Disease: Genetic and Functional Associations of Down's and Waardenburg Syndromes. Semin Pediatr Surg. 1998;7(3):156-61. PubMed PMID: 9718653.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes. AU - Moore,S W, AU - Johnson,A G, PY - 1998/8/27/pubmed PY - 1998/8/27/medline PY - 1998/8/27/entrez SP - 156 EP - 61 JF - Seminars in pediatric surgery JO - Semin Pediatr Surg VL - 7 IS - 3 N2 - Despite significant advances in understanding the genetic background in Hirschsprung's disease (HD), the majority of cases are believed to be multigenic and multifactorial. Conditions associated with an increased risk of HD suggest some common inherited factor and include Down's syndrome, Waardenburg syndrome (WS), dominant sensorineural deafness, neurofibromatosis, neuroblastoma, phaechromocytoma, the MEN type 2B syndrome, and other abnormalities. The reported incidence of Down's syndrome in HD is approximately 2%, but the range varies from 2% to 15%. WS, on the other hand, is one of a number of uncommon human conditions in which pigmentary disturbances are associated with sensorineural deafness. HD mutations have been mapped to a number of genes, i.e., RET proto-oncogene, at 10q11.2; the recessive EDNRB gene, located at 13q22; its ligand endothelin 3 (EDN3); and the glial cell line-derived neurotrophic factor (GDNF) in humans. Mutations of known genes appear to account for only a relatively small number of HD cases (20% in the case of RET). GDNF may modulate the disease phenotype by interacting with other susceptibility loci (e.g., RET). The genetic aspects of HD occurring in association with trisomy 21 and WS are reviewed. Clinical presentation, diagnosis, treatment and long-term outcome in this patient group are evaluated. Additional data are presented on 12 children with Down's syndrome out of 408 surgically treated HD patients. The role of associated anomalies is evaluated, and an increased susceptibility to severe enterocolitis associated with a high mortality rate is reported. Surgical correction can be achieved, but patients may require some form of ongoing help to facilitate acceptable bowel function. The decision as to the nature and timing of the surgical correction must be individualized. SN - 1055-8586 UR - https://www.unboundmedicine.com/medline/citation/9718653/Hirschsprung's_disease:_genetic_and_functional_associations_of_Down's_and_Waardenburg_syndromes_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1055858698000109 DB - PRIME DP - Unbound Medicine ER -
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