Meconium Ileus (MI), Presentation of Cystic Fibrosis needs more Research?
Journal Title: Progressing Aspects in Pediatrics and Neonatology - Year 2018, Vol 1, Issue 2
Abstract
Gastrointestinal (GI) tract gets affected earlier in the development stage of cystic fibrosis due to CFTR mutations [1]. CFTR gene is present all over the intestinal epithelial cells [2]. It controls secretion of chloride, bicarbonate and fluids. CFTR mutations result in abnormal electrolyte composition leading to abnormality in fluid secretions which alters the epithelial surface. This creates a dry luminal environment and bicarbonate deficiency in the proximal small intestine [3]. This can lead to terminal ileum obstruction, which when left untreated can result in rupture and sepsis known as meconium ileus (MI) in cystic fibrosis neonates. This can also present itself as distal intestinal obstructive syndrome (DIOS). The material which is mucofeculent, adheres to mucosal surface, giving appearance as bubbly-granular mass in the right lower quadrant on radiographs of the abdomen. It is found that less than 50% of patients that develop DIOS had MI as infants [4]. The studies done in twins provide evidence of the role of environmental and modifier genes in cystic fibrosis [5]. MI occurs in 20% of cystic fibrosis patients with severe mutation [6]. Meconium ileus (MI), distal intestinal obstruction syndrome (DIOS), and cystic fibrosis liver diseases are seen in 5 -20% of cystic fibrosis patients carrying severe class I -III mutations on both alleles. But no phenotype correlation could be established [7]. The role of modifier genes in MI and liver diseases due to cystic fibrosis is very important [8]. There are reports that some newborn infants with MI may not suffer from cystic fibrosis but these cases are very rare [9]. In these cases we must confirm diagnosis by other methods like sweat chloride tests, nasal potential difference sequencing before parental counseling.
Authors and Affiliations
Pramila G Menon
Keywords
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- EP ID EP575613
- DOI 10.32474/PAPN.2018.01.000106
- Views 61
- Downloads 0
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