Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening

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...

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Veröffentlicht in:	Archives of disease in childhood Jg. 92; H. 10; S. 842 - 846
Hauptverfasser:	Cipolli, Marco, Castellani, Carlo, Wilcken, Bridget, Massie, John, McKay, Karen, Gruca, Margie, Tamanini, Anna, Assael, Maurice Baroukh, Gaskin, Kevin
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	London BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health 01.10.2007 BMJ BMJ Publishing Group Ltd BMJ Publishing Group LTD BMJ Group
Schlagworte:	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 Australia Italy Italy, Verona Human Pediatrics Respiratory disease Metabolic diseases Cystic fibrosis Infant Identification Medical screening Genetic disease Phenotype Digestive diseases Genetics Mutation Pancreas Child Public health Pancreatic disease
ISSN:	0003-9888, 1468-2044, 1468-2044
Online-Zugang:	Volltext
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Zusammenfassung:	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 <60% or ⩾90% of patients, respectively, have at least one single ΔF508 a mutation.Patients:315 children with CF including 149 at Verona and 166 at Westmead.Interventions:Fat balance studies over 3–5 days and pancreatic stimulation tests with main outcome measures being faecal fat or pancreatic colipase secretion. Patients with malabsorption are pancreatic insufficient (PI) or with normal absorption and pancreatic sufficient (PS).Results:34 infants (23%) at Verona and 46 (28%) at Westmead were PS at diagnosis. 15% of those with two class I, II or III “severe” mutations and 26/28 (93%) of those with class IV or V mutations were PS at this early age. Of the 80 infants with PS, 20 became PI before the age of 12. All 20 had two severe mutations.Conclusion:Neonatal mutational screening programs for CF are less likely to detect PS patients with non-ΔF508 mutations. Of PS patients who are detected, those with two severe class I, II or III mutations are at particularly high risk of becoming PI during early childhood.
Bibliographie:	ArticleID:ac107581 ark:/67375/NVC-NSJ43W34-Q href:archdischild-92-842.pdf PMID:17449517 istex:0AB07592DBF15C1E644147CBABC4D99F53C6C8F3 local:archdischild;92/10/842 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 ObjectType-Article-2 ObjectType-Undefined-1 ObjectType-Feature-3
ISSN:	0003-9888 1468-2044 1468-2044
DOI:	10.1136/adc.2006.107581