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Cystic fibrosis associated meconium ileus

MedGen UID:
639765
Concept ID:
C0546982
Disease or Syndrome
Synonyms: cystic fibrosis associated meconium ileum; cystic fibrosis associated meconium ileus; Cystic Fibrosis with Meconium Ileus; Cystic fibrosis with meconium ileus; Meconium ileus in cystic fibrosis; Meconium obstruction of intestine in mucoviscidosis
SNOMED CT: Cystic fibrosis with meconium ileus (86092005); Meconium obstruction of intestine in mucoviscidosis (86092005); Meconium ileus in cystic fibrosis (86092005)
 
Monarch Initiative: MONDO:0005413

Definition

A congenital metabolic detected in the neonatal period that is characterized by the presence of a meconium ileus. The disease affects the exocrine glands andis inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Doull I, Course CW, Hanks RE, Southern KW, Forton JT, Thia LP, Moat SJ
Arch Dis Child 2021 Mar;106(3):253-257. Epub 2020 Aug 28 doi: 10.1136/archdischild-2020-318999. PMID: 32859613
Zielenski J
Respiration 2000;67(2):117-33. doi: 10.1159/000029497. PMID: 10773783
Kerem E, Kerem B
Curr Opin Pulm Med 1995 Nov;1(6):450-6. doi: 10.1097/00063198-199511000-00004. PMID: 9363081

Recent clinical studies

Etiology

Ley D, Turck D
Best Pract Res Clin Gastroenterol 2022 Feb-Mar;56-57:101788. Epub 2022 Feb 24 doi: 10.1016/j.bpg.2022.101788. PMID: 35331400
Long AM, Jones IH, Knight M, McNally J; BAPS-CASS
J Pediatr Surg 2021 Aug;56(8):1287-1292. Epub 2021 Feb 24 doi: 10.1016/j.jpedsurg.2021.02.047. PMID: 33789802
Wasuwanich P, Karnsakul W
Minerva Pediatr 2020 Oct;72(5):440-447. Epub 2020 May 15 doi: 10.23736/S0026-4946.20.05895-8. PMID: 32418413
Sathe M, Houwen R
J Cyst Fibros 2019 Nov;18(6):746. Epub 2019 Oct 25 doi: 10.1016/j.jcf.2019.10.003. PMID: 31668933
van der Doef HP, Kokke FT, van der Ent CK, Houwen RH
Curr Gastroenterol Rep 2011 Jun;13(3):265-70. doi: 10.1007/s11894-011-0185-9. PMID: 21384135Free PMC Article

Diagnosis

Wasuwanich P, Karnsakul W
Minerva Pediatr 2020 Oct;72(5):440-447. Epub 2020 May 15 doi: 10.23736/S0026-4946.20.05895-8. PMID: 32418413
Sathe M, Houwen R
J Cyst Fibros 2019 Nov;18(6):746. Epub 2019 Oct 25 doi: 10.1016/j.jcf.2019.10.003. PMID: 31668933
van der Doef HP, Kokke FT, van der Ent CK, Houwen RH
Curr Gastroenterol Rep 2011 Jun;13(3):265-70. doi: 10.1007/s11894-011-0185-9. PMID: 21384135Free PMC Article
Zielenski J
Respiration 2000;67(2):117-33. doi: 10.1159/000029497. PMID: 10773783
Ziegler MM
Curr Probl Surg 1994 Sep;31(9):731-77. doi: 10.1016/0011-3840(94)90040-x. PMID: 8062591

Therapy

Wasuwanich P, Karnsakul W
Minerva Pediatr 2020 Oct;72(5):440-447. Epub 2020 May 15 doi: 10.23736/S0026-4946.20.05895-8. PMID: 32418413
Ramos KJ, Sack CS, Mitchell KH, Goss CH, Starr JR
J Pediatr 2017 Jan;180:206-211.e1. Epub 2016 Oct 25 doi: 10.1016/j.jpeds.2016.09.069. PMID: 27793338Free PMC Article
Zhang Z, Lindstrom MJ, Farrell PM, Lai HJ; Wisconsin Cystic Fibrosis Neonatal Screening Group
Pediatrics 2016 May;137(5) Epub 2016 Apr 5 doi: 10.1542/peds.2015-2907. PMID: 27244789Free PMC Article
Mulherin D, FitzGerald M
Dig Dis 1992;10(1):29-37. doi: 10.1159/000171341. PMID: 1551244
Hanly JG, Fitzgerald MX
Br Med J (Clin Res Ed) 1983 Apr 30;286(6375):1411-3. doi: 10.1136/bmj.286.6375.1411. PMID: 6404483Free PMC Article

Prognosis

Ley D, Turck D
Best Pract Res Clin Gastroenterol 2022 Feb-Mar;56-57:101788. Epub 2022 Feb 24 doi: 10.1016/j.bpg.2022.101788. PMID: 35331400
Wasuwanich P, Karnsakul W
Minerva Pediatr 2020 Oct;72(5):440-447. Epub 2020 May 15 doi: 10.23736/S0026-4946.20.05895-8. PMID: 32418413
Sathe M, Houwen R
J Cyst Fibros 2019 Nov;18(6):746. Epub 2019 Oct 25 doi: 10.1016/j.jcf.2019.10.003. PMID: 31668933
Leeuwen L, Magoffin AK, Fitzgerald DA, Cipolli M, Gaskin KJ
Arch Dis Child 2014 May;99(5):443-7. Epub 2014 Jan 16 doi: 10.1136/archdischild-2013-304159. PMID: 24436365
Jackson CR, Orford J, Minutillo C, Dickinson JE
Eur J Pediatr Surg 2010 May;20(3):191-3. Epub 2010 Feb 19 doi: 10.1055/s-0030-1247523. PMID: 20175047

Clinical prediction guides

Ley D, Turck D
Best Pract Res Clin Gastroenterol 2022 Feb-Mar;56-57:101788. Epub 2022 Feb 24 doi: 10.1016/j.bpg.2022.101788. PMID: 35331400
Wilk MA, Braun AT, Farrell PM, Laxova A, Brown DM, Holt JM, Birch CL, Sosonkina N, Wilk BM, Worthey EA
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004531. PMID: 32014855Free PMC Article
Terlizzi V, Lucarelli M, Salvatore D, Angioni A, Bisogno A, Braggion C, Buzzetti R, Carnovale V, Casciaro R, Castaldo G, Cirilli N, Collura M, Colombo C, Di Lullo AM, Elce A, Lucidi V, Madarena E, Padoan R, Quattrucci S, Raia V, Seia M, Termini L, Zarrilli F
BMC Pulm Med 2018 Dec 22;18(1):196. doi: 10.1186/s12890-018-0766-6. PMID: 30577776Free PMC Article
Ramos KJ, Sack CS, Mitchell KH, Goss CH, Starr JR
J Pediatr 2017 Jan;180:206-211.e1. Epub 2016 Oct 25 doi: 10.1016/j.jpeds.2016.09.069. PMID: 27793338Free PMC Article
Jackson CR, Orford J, Minutillo C, Dickinson JE
Eur J Pediatr Surg 2010 May;20(3):191-3. Epub 2010 Feb 19 doi: 10.1055/s-0030-1247523. PMID: 20175047

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