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[Neonatal cystic fibrosis: report of 2 cases]
E Della Casa Muttini1, M Pancaldi, M F Roversi
1Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche dell'Università di Modena e Reggio Emilia. elisadcm@hotmail.com
Insights
Cystic fibrosis, a rare cause of neonatal respiratory distress, often presents with meconium ileus. Early diagnosis through genetic analysis and sweat tests is crucial for managing this life-limiting genetic disorder.
Area of Science:
- Medical Genetics
- Pediatric Pulmonology
- Neonatology
Background:
- Cystic fibrosis (CF) is a common life-limiting autosomal recessive genetic disorder caused by mutations in the CFTR gene.
- While over 500 CFTR mutations are known, CF as a cause of neonatal respiratory distress is rare.
Observation:
- Presents two cases of cystic fibrosis in newborns.
- The first case highlights the strong association between meconium ileus and CF, with diagnosis confirmed by genetic analysis and sweat test.
- The second case involved meconium ileus, ileal atresia, cholestatic jaundice, and severe respiratory disease, leading to cardiac failure and death.
Findings:
- Meconium ileus is a significant early indicator of cystic fibrosis in neonates.
- Diagnostic challenges can arise, as illustrated by the second case where genetic analysis and sweat tests were inconclusive.
- Clinical presentation, including intestinal obstruction and jaundice, alongside elevated serum trypsin, can support a CF diagnosis even with ambiguous genetic results.
Implications:
- Emphasizes the importance of considering cystic fibrosis in neonates presenting with meconium ileus, even without a clear genetic confirmation.
- Highlights the need for reliable diagnostic methods and careful interpretation of results in neonatal CF cases.
- Underscores the severe and often fatal outcomes of undiagnosed or late-diagnosed cystic fibrosis in the neonatal period.
Abstract:
Cystic fibrosis is the most common life-limiting recessive genetic disorder in Caucasian. It is caused by mutations of CFTR gene (cystic fibrosis transmembrane conductance regulator); at present over 500 mutations are known. Cystic fibrosis as a cause of respiratory distress in the neonate is quite rare. In neonatal period the most important clinical manifestations are meconium ileum and much rarely cholestatic jaundice. We present two cases of cystic fibrosis in newborns. In the first one, we point out the strict association between meconium ileum and cystic fibrosis. The patient underwent a surgical treatment for meconium ileum and the diagnosis was rapidly confirmed by genetic analysis and sweat test. The second one had intestinal obstruction from birth caused by meconium ileum associated with ileal atresia; besides, he developed cholestatic jaundice, severe and rapidly progressive respiratory disease. He died at 102 degrees day of age for cardiac failure. The diagnosis of cystic fibrosis, supported by typical clinical features and high level of serum trypsin, unfortunately wasn't confirmed by genetic analysis (lambda F508/neg), in addition, the sweat test wasn't reliable because an inadequate quantity of sweat was collected.