| A case of cystic fibrosis presented with meconium ileus
in a female neonate |
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In-Ok Hwang, Eun-Sil Lee |
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Department of Pediatrics, College of Medicine, Yeungnam University, Daegu, Korea |
| 신생아에서 발생한 태변장폐색증에 동반된낭성섬유증 1례 |
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황인옥, 이은실 |
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영남대학교 의과대학 소아과학교실 |
Correspondence:
Eun-Sil Lee, Email: les2055@ynu.ac.kr
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| Abstract |
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Meconium ileus (MI) is the earliest clinical manifestation of cystic fibrosis (CF) in infants. It arises from the intraluminal accumulation of highly viscid, protein-rich meconium, typically present in the terminal ileum as a neonatal intestinal obstruction. Therefore, the clinical symptoms include abdominal distension, bilious vomiting and delayed passage of meconium. CF is caused by mutations in the transmembrane conductance regulator gene (CFTR) located in the long arm of chromosome 7. CF is common in Caucacians, but is a rare disorder in Asian countries, including Korea. We experienced a case of CF combined with MI. Compared with the previous reports of CF in Korea which presented respiratory problems, this is the first case genetically diagnosed as CF with MI during the newborn period. |
| Key Words:
Cystic fibrosis, Meconium ileus |
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