Meconium Ileus in Two Irish Newborns: The Presenting Feature of Cystic Fibrosis
Ir Med J
; 112(3): 901, 2019 03 14.
Article
em En
| MEDLINE
| ID: mdl-30932447
ABSTRACT
Introduction Meconium Ileus (MI) is the presenting feature of CF in approximately 10-15% of cases. This report outlines the clinical presentation, imaging and management of two neonates with MI and subsequent diagnosis of Cystic Fibrosis (CF). Methods A retrospective chart review was performed to evaluate the clinical course of two neonates with MI. Results Case 1 and 2 presented clinically with signs of abdominal obstruction. Subsequent laparotomies confirmed MI. MI is strongly associated with CF and CF is the most common genetically inherited disease in Ireland. Genetic testing was positive for a homozygous ∆ F508 mutation in both case 1 and 2, securing a diagnosis of MI secondary to CF. Conclusion Our cases highlight that all infants born in Ireland with MI should be considered as CF positive until proven otherwise.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fibrose Cística
/
Íleo Meconial
Tipo de estudo:
Observational_studies
Limite:
Female
/
Humans
/
Male
/
Newborn
País/Região como assunto:
Europa
Idioma:
En
Revista:
Ir Med J
Ano de publicação:
2019
Tipo de documento:
Article