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Functional intestinal obstruction

MedGen UID:
768596
Concept ID:
C3639956
Finding
Synonym: Functional Bowel Obstruction
 
HPO: HP:0005249

Definition

The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFunctional intestinal obstruction

Conditions with this feature

Visceral neuropathy, familial, 1, autosomal recessive
MedGen UID:
340946
Concept ID:
C1855733
Disease or Syndrome
Autosomal recessive familial visceral neuropathy-1 (VSCN1) is characterized by a broad spectrum of developmental anomalies associating neural crest and extraneural crest features, including intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Some patients develop progressive peripheral neuropathy, and arthrogryposis has been observed. Hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, as well as microtia or anotia, have been reported. Patients also exhibit facial dysmorphisms, including microretrognathia in most; other variable features include structural cardiac anomalies and arthrogryposis with multiple pterygia (Le et al., 2021). Genetic Heterogeneity of Familial Visceral Neuropathy Autosomal recessive familial visceral neuropathy-2 (VSCN2; 619465) is caused by mutation in the ERBB2 gene (164870) on chromosome 17q12. Also see VSCN3 (609629) for an autosomal dominant form of the disorder.

Professional guidelines

PubMed

Burkardt DD, Graham JM Jr, Short SS, Frykman PK
Clin Pediatr (Phila) 2014 Jan;53(1):71-81. Epub 2013 Sep 3 doi: 10.1177/0009922813500846. PMID: 24002048
Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, López-Alonso M, Hernández A, Wright FA, Antiñolo G, Eng C
J Med Genet 2000 Aug;37(8):572-8. doi: 10.1136/jmg.37.8.572. PMID: 10922382Free PMC Article
Miller RC
J Pediatr Surg 1975 Jun;10(3):367-73. doi: 10.1016/0022-3468(75)90100-1. PMID: 806675

Recent clinical studies

Etiology

Viti F, De Giorgio R, Ceccherini I, Ahluwalia A, Alves MM, Baldo C, Baldussi G, Bonora E, Borrelli O, Dall'Oglio L, De Coppi P, De Filippo C, de Santa Barbara P, Diamanti A, Di Lorenzo C, Di Maulo R, Galeone A, Gandullia P, Hashmi SK, Lacaille F, Lancon L, Leone S, Mahé MM, Molnar MJ, Palmitelli A, Perin S, Prato AP, Thapar N, Vassalli M, Heuckeroth RO
Dig Dis Sci 2023 Oct;68(10):3857-3871. Epub 2023 Aug 31 doi: 10.1007/s10620-023-08066-1. PMID: 37650948Free PMC Article
Mitani Y, Kubota A, Goda T, Kato H, Watanabe T, Riko M, Tsuno Y, Kumagai T, Yamaue H
J Pediatr Surg 2021 Jul;56(7):1117-1120. Epub 2021 Mar 27 doi: 10.1016/j.jpedsurg.2021.03.029. PMID: 33896618
Wang J, Xiao J, Meng X, Chu X, Zhuansun DD, Xiong B, Feng J
BMC Pediatr 2021 Mar 30;21(1):153. doi: 10.1186/s12887-021-02611-5. PMID: 33784990Free PMC Article
Hirano K, Kubota A, Nakayama M, Kawahara H, Yoneda A, Tazuke Y, Tani G, Ishii T, Goda T, Umeda S, Hirno S, Shiraishi J, Kitajima H
Pediatr Int 2015 Aug;57(4):677-81. Epub 2015 May 22 doi: 10.1111/ped.12609. PMID: 25728615
Godbole K
Indian Pediatr 2004 Nov;41(11):1115-23. PMID: 15591661

Diagnosis

Viti F, De Giorgio R, Ceccherini I, Ahluwalia A, Alves MM, Baldo C, Baldussi G, Bonora E, Borrelli O, Dall'Oglio L, De Coppi P, De Filippo C, de Santa Barbara P, Diamanti A, Di Lorenzo C, Di Maulo R, Galeone A, Gandullia P, Hashmi SK, Lacaille F, Lancon L, Leone S, Mahé MM, Molnar MJ, Palmitelli A, Perin S, Prato AP, Thapar N, Vassalli M, Heuckeroth RO
Dig Dis Sci 2023 Oct;68(10):3857-3871. Epub 2023 Aug 31 doi: 10.1007/s10620-023-08066-1. PMID: 37650948Free PMC Article
Mitani Y, Kubota A, Goda T, Kato H, Watanabe T, Riko M, Tsuno Y, Kumagai T, Yamaue H
J Pediatr Surg 2021 Jul;56(7):1117-1120. Epub 2021 Mar 27 doi: 10.1016/j.jpedsurg.2021.03.029. PMID: 33896618
Borrego S, Ruiz-Ferrer M, Fernández RM, Antiñolo G
Histol Histopathol 2013 Sep;28(9):1117-36. Epub 2013 Apr 19 doi: 10.14670/HH-28.1117. PMID: 23605783
Puri P, Gosemann JH
Semin Pediatr Surg 2012 Nov;21(4):310-8. doi: 10.1053/j.sempedsurg.2012.07.005. PMID: 22985836
Puri P, Shinkai M
Semin Pediatr Surg 2005 Feb;14(1):58-63. doi: 10.1053/j.sempedsurg.2004.10.026. PMID: 15770589

Therapy

Farahmand F, Khodadad A, Fallahi G, Motaharizad D, Sabery Nejad J
Acta Med Iran 2016 Sep;54(9):614-616. PMID: 27832696
Hirano K, Kubota A, Nakayama M, Kawahara H, Yoneda A, Tazuke Y, Tani G, Ishii T, Goda T, Umeda S, Hirno S, Shiraishi J, Kitajima H
Pediatr Int 2015 Aug;57(4):677-81. Epub 2015 May 22 doi: 10.1111/ped.12609. PMID: 25728615
Mabula JB, Kayange NM, Manyama M, Chandika AB, Rambau PF, Chalya PL
BMC Res Notes 2014 Jun 28;7:410. doi: 10.1186/1756-0500-7-410. PMID: 24973940Free PMC Article
Dasgupta R, Langer JC
Semin Pediatr Surg 2005 Feb;14(1):64-71. doi: 10.1053/j.sempedsurg.2004.10.027. PMID: 15770590
Howat JM, Wilkinson AW
Arch Dis Child 1970 Dec;45(244):800-4. doi: 10.1136/adc.45.244.800. PMID: 5491884Free PMC Article

Prognosis

Nakamura H, O'Donnell AM, Puri P
Pediatr Surg Int 2019 Feb;35(2):175-180. Epub 2018 Nov 1 doi: 10.1007/s00383-018-4390-6. PMID: 30386895
Soh H, Fukuzawa M, Kubota A, Kawahara H, Ueno T, Taguchi T
J Pediatr Surg 2015 Dec;50(12):2048-50. Epub 2015 Aug 28 doi: 10.1016/j.jpedsurg.2015.08.026. PMID: 26413901
Hirano K, Kubota A, Nakayama M, Kawahara H, Yoneda A, Tazuke Y, Tani G, Ishii T, Goda T, Umeda S, Hirno S, Shiraishi J, Kitajima H
Pediatr Int 2015 Aug;57(4):677-81. Epub 2015 May 22 doi: 10.1111/ped.12609. PMID: 25728615
Mabula JB, Kayange NM, Manyama M, Chandika AB, Rambau PF, Chalya PL
BMC Res Notes 2014 Jun 28;7:410. doi: 10.1186/1756-0500-7-410. PMID: 24973940Free PMC Article
Gosemann JH, Puri P
Pediatr Surg Int 2011 Oct;27(10):1041-6. doi: 10.1007/s00383-011-2954-9. PMID: 21792650

Clinical prediction guides

Maluleke T, Mangray H, Arnold M, Moore HA, Moore SW
Pediatr Surg Int 2019 Apr;35(4):439-442. Epub 2018 Nov 15 doi: 10.1007/s00383-018-4367-5. PMID: 30430282
Mabula JB, Kayange NM, Manyama M, Chandika AB, Rambau PF, Chalya PL
BMC Res Notes 2014 Jun 28;7:410. doi: 10.1186/1756-0500-7-410. PMID: 24973940Free PMC Article
Donnell AM, Doi T, Hollwarth M, Kalicinski P, Czauderna P, Puri P
Pediatr Surg Int 2008 Nov;24(11):1191-5. doi: 10.1007/s00383-008-2235-4. PMID: 18726604
Basilisco G, Gebbia C, Peracchi M, Velio P, Conte D, Bresolin N, Nobile-Orazio E
Eur J Gastroenterol Hepatol 2005 Apr;17(4):449-52. doi: 10.1097/00042737-200504000-00010. PMID: 15756099
Frank JW, Sarr MG, Camilleri M
Am J Gastroenterol 1994 Mar;89(3):339-44. PMID: 8122641

Recent systematic reviews

Nakamura H, O'Donnell AM, Puri P
Pediatr Surg Int 2019 Feb;35(2):175-180. Epub 2018 Nov 1 doi: 10.1007/s00383-018-4390-6. PMID: 30386895
Gosemann JH, Puri P
Pediatr Surg Int 2011 Oct;27(10):1041-6. doi: 10.1007/s00383-011-2954-9. PMID: 21792650

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