Atresia yeyunal y fibrosis quística: presentación de un caso / Jejunal atresia and cystic fibrosis: report of a case

ABSTRACT

The most common cause of bowel obstruction in thenewborn is jejunal atresia. It´s a rare congenital malformation that it is believed could be caused by bowel vascular obstruction during intrauterine life. In some cases, an autosomal recesive inheritance has been referred. In infants affected by jejunal atresia an increased frequency of cystic fibrosis has been observed. A case is reported where a newborndied by jejunal atresia. His parents are both heterozygote for the cystic fibrosis allele ΔF508 and the disease was confirmed through molecular genetics study un parafined tissues. The implications on management of patients and familial genetic counselling, are discussed (AU)