Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening

• Published in: Archives of disease in childhood 2007-10, Vol.92 (10), p.842-846
• Main Authors: Cipolli, Marco, Castellani, Carlo, Wilcken, Bridget, Massie, John, McKay, Karen, Gruca, Margie, Tamanini, Anna, Assael, Maurice Baroukh, Gaskin, Kevin
• Format: Article
• Language: English
• Subjects: Age; Analysis; Biological and medical sciences; Breastfeeding & lactation; Child; Child, Preschool; Chloride; Coding; Cystic fibrosis; Cystic Fibrosis - diagnosis; Cystic Fibrosis - enzymology; Cystic Fibrosis - genetics; Data Analysis; Deoxyribonucleic acid; Diagnosis; DNA; Enzymes; Errors of metabolism; Ethics; Exocrine Pancreatic Insufficiency - diagnosis; Exocrine Pancreatic Insufficiency - genetics; Female; Gene mutation; Gene mutations; General aspects; Genetic aspects; Genetic screening; Genetic testing; Genotype & phenotype; Hospitals; Humans; Identification and classification; Infant; Infant, Newborn; Infants; Infants (Newborn); Item Response Theory; Male; Medical examination; Medical sciences; Metabolic diseases; Miscellaneous; Miscellaneous hereditary metabolic disorders; Mutation; Mutation - genetics; Neonatal screening; Neonatal Screening - methods; Neonates; Nutrition Disorders; Nutritional Status; Oils & fats; Original; Patients; Phenotype; Phenotypes; Pregnancy; Prevention and actions; Public health. Hygiene; Public health. Hygiene-occupational medicine; Sample Size; Studies; Trypsin; Validated Programs; Young Children
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/adc.2006.107581

Objective:To determine the pancreatic phenotype of infants with cystic fibrosis (CF) diagnosed in the first week of life by a combined immunoreactive trypsin/mutation screening program.Design:A prospective evaluation of pancreatic function in infants with CF at the time of neonatal diagnosis and up to the age of 12.Setting:Two different centres (Verona, Italy and Westmead, Australia) to enable comparison of results between two regions where