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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

Zybert K, Borawska-Kowalczyk U, Wozniacki L, Dawidziuk M, Ołtarzewski M, Sands D
J Pediatr (Rio J) 2022 Jul-Aug;98(4):419-424. Epub 2021 Dec 22 doi: 10.1016/j.jped.2021.11.007. PMID: 34953776Free PMC Article
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

Recent clinical studies

Etiology

Aksit MA, Ling H, Pace RG, Raraigh KS, Onchiri F, Faino AV, Pagel K, Pugh E, Stilp AM, Sun Q, Blue EE, Wright FA, Zhou YH, Bamshad MJ, Gibson RL, Knowles MR, Cutting GR, Blackman SM; CF Genome Project
Am J Hum Genet 2022 Oct 6;109(10):1894-1908. doi: 10.1016/j.ajhg.2022.09.004. PMID: 36206743Free PMC Article
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
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

McDonald CM, Reid EK, Pohl JF, Yuzyuk TK, Padula LM, Vavrina K, Altman K
Nutr Clin Pract 2024 Apr;39 Suppl 1:S57-S77. doi: 10.1002/ncp.11122. PMID: 38429959
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
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
Boëlle PY, Debray D, Guillot L, Clement A, Corvol H; French CF Modifier Gene Study Investigators
Hepatology 2019 Apr;69(4):1648-1656. Epub 2018 Dec 28 doi: 10.1002/hep.30148. PMID: 30058245Free 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
Ooi CY, Jeyaruban C, Lau J, Katz T, Matson A, Bell SC, Adams SE, Krishnan U
J Paediatr Child Health 2016 Apr;52(4):430-5. doi: 10.1111/jpc.13096. PMID: 27145507
Mulherin D, FitzGerald M
Dig Dis 1992;10(1):29-37. doi: 10.1159/000171341. PMID: 1551244

Prognosis

McDonald CM, Reid EK, Pohl JF, Yuzyuk TK, Padula LM, Vavrina K, Altman K
Nutr Clin Pract 2024 Apr;39 Suppl 1:S57-S77. doi: 10.1002/ncp.11122. PMID: 38429959
Kozawa Y, Yamamoto A, Nakakuki M, Fujiki K, Kondo S, Okada T, Fukuyasu T, Yamaguchi M, Taniguchi I, Nomura N, Liu L, Higuchi M, Niwa E, Sohma Y, Naruse S, Takeyama Y, Ishiguro H
J Hum Genet 2023 Oct;68(10):671-680. Epub 2023 May 22 doi: 10.1038/s10038-023-01160-2. PMID: 37217688
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

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
Mondejar-Lopez P, Zolin A, Garcia-Marcos PW, Pastor-Vivero MD, Rosa-Silvestre M, de Asis Sanchez-Martinez F, Salvatore D, Cimino G, Majo F, Sole-Jover A, Asensio de la Cruz O, Calderazzo MA, Pizzamiglio G, Castillo-Corullon S, Alvarez-Fernandez A, Gartner S, Padoan R, Carnovale V, Salvatore M, Moya-Quiles MR, Orenti A, Glover G, Sanchez-Solis M
Respir Med 2022 Feb;192:106736. Epub 2022 Jan 6 doi: 10.1016/j.rmed.2022.106736. PMID: 35032736
Archangelidi O, Cullinan P, Simmonds NJ, Mentzakis E, Peckham D, Bilton D, Carr SB
J Cyst Fibros 2022 Mar;21(2):302-308. Epub 2021 Aug 1 doi: 10.1016/j.jcf.2021.07.004. PMID: 34348871
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

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