Investigation for cystic fibrosis in infants with jejunoileal atresia in the Netherlands: a 35-year experience with 114 cases

Abstract

Cystic fibrosis (CF) is a relatively common autosomal recessive disorder with an incidence of 1 in 3600 live births in the Netherlands [1, 6]. CF is immediately suspected in neonates with meconium ileus. However in children with jejunoileal atresia (JIA), CF may be overlooked [2, 5]. In our hospital, investigation for CF in JIA-patients was performed only when clinical symptoms gave rise to it. The objective of this retrospective case study was to evaluate factors that might justify a change in our current strategy for investigation for CF in neonates with JIA. For this reason, the medical records of all patients with jejunoileal atresia and stenosis treated at our hospital in the period 1971–2005 have been reviewed. Intestinal perforation and microcolon were regarded as consequences of the JIA. Volvulus, omphalocele, gastroschisis, and intussusception were regarded as gastrointestinal anomalies that could have caused the atresia or stenosis. Cystic fibrosis was present in nine cases in 114 patients with JIA (8%). In seven neonates CF was diagnosed in the first month of life. In two patients investigation occurred much later. No statistically significant differences between birth weight, average growth per day (age 3 months), time at starting oral feeding, time at starting total oral intake and hospital stay were observed in the JIA-group with and without CF. There was also no statistically significant difference regarding sex, gestational age, number of gemelli, presence of short bowel, mortality, requirement of central venous line insertion for administration of total parenteral nutrition, number of prenatal diagnosed atresias and number of patients needing a temporary enterostomy. From the atresias in patients without CF, 61% were located in the jejunum, 7% in the jejunoileum and 32% in the ileum; compared to 78%, 11% and 11% in jejunum, jejunoileum and ileum, respectively, in those with CF. There was no difference in the classification of the atresias (Table 1) [3]. The number of patients with one or more associated anomalies did not differ significantly (60% in the non-CF-group versus 67% in the CF-group), even after correction for gastrointestinal anomalies that could well be cause or consequence of the atresia (45% versus 33%, respectively). The reported incidence of CF in infants with JIA in the Netherlands is not different from the international reported incidence of 10% [2, 5]. We could not find any difference in clinical symptoms, classification and location of the atresia and associated anomalies that might justify investigation for CF. Although Michaud suggested CF as a cause of apple peel atresia (type IIIb), we cannot support this suggestion with only 1 out of 9 CF-patients with this kind of atresia [4]. Different authors have already recommended testing for CF in all neonates presenting with JIA merely based on the significant association between jejunoileal atresia and cystic fibrosis [2, 5]. The findings of our study support this Eur J Pediatr (2007) 166:989–990 DOI 10.1007/s00431-006-0342-6