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Cystic fibrosis with meconium ileus

MedGen UID:
639765
Concept ID:
C0546982
Disease or Syndrome
Synonyms: 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)

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  
  • CROGVCystic fibrosis with meconium ileus

Professional guidelines

PubMed

Lai HC, Kosorok MR, Laxova A, Davis LA, FitzSimmon SC, Farrell PM
Pediatrics 2000 Jan;105(1 Pt 1):53-61. doi: 10.1542/peds.105.1.53. PMID: 10617704

Recent clinical studies

Etiology

Lai HC, Kosorok MR, Laxova A, Davis LA, FitzSimmon SC, Farrell PM
Pediatrics 2000 Jan;105(1 Pt 1):53-61. doi: 10.1542/peds.105.1.53. PMID: 10617704
Kerem E, Corey M, Kerem B, Durie P, Tsui LC, Levison H
J Pediatr 1989 May;114(5):767-73. doi: 10.1016/s0022-3476(89)80134-9. PMID: 2715890

Diagnosis

Lai HC, Kosorok MR, Laxova A, Davis LA, FitzSimmon SC, Farrell PM
Pediatrics 2000 Jan;105(1 Pt 1):53-61. doi: 10.1542/peds.105.1.53. PMID: 10617704

Therapy

Lai HC, Kosorok MR, Laxova A, Davis LA, FitzSimmon SC, Farrell PM
Pediatrics 2000 Jan;105(1 Pt 1):53-61. doi: 10.1542/peds.105.1.53. PMID: 10617704

Prognosis

Kerem E, Corey M, Kerem B, Durie P, Tsui LC, Levison H
J Pediatr 1989 May;114(5):767-73. doi: 10.1016/s0022-3476(89)80134-9. PMID: 2715890

Clinical prediction guides

Lai HC, Kosorok MR, Laxova A, Davis LA, FitzSimmon SC, Farrell PM
Pediatrics 2000 Jan;105(1 Pt 1):53-61. doi: 10.1542/peds.105.1.53. PMID: 10617704

Supplemental Content

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