Meconium ileus

Abstract

Baron Carl von Rokitansky in late nineteenth century observed "a case of foetal death due to meconium peritonitis", while Landstainer firstly described meconium ileus (MI) in 1905, when thickened meconium was noted in a newborn with pathologic changes of the pancreas (Landsteiner, Zentralbl Allg Pathol 16:903-907, 1905). An unknown enzyme deficiency was supposed to cause both fibrotic changes of the pancreas and meconium inspissation. In 1936, the term cystic fibrosis of the pancreas (CF) was coined by Fanconi to describe the association between chronic pulmonary disease and pancreatic insufficiency (Zigler, Curr Probl Surg 31:441-444, 1994). Nonetheless, it was only two years later that Anderson described the connection between MI and CF reporting similar pattern of hystologic pancreatic abnormalities in both CF and MI newborns, suggesting a causative link between CF, abnormal intestinal mucus secretion and the abnormally viscid nature of meconium in MI infants (Anderson, Am J Dis Child 56:344-399, 1938). However, it was only in 1996 when Rozmahel et al. firstly reported a modifier locus for MI on chromosome 7 in a murine CF model (cfm1) (Rozmahel et al., Nat Genet. 12:280-287, 1996).