Protracted neonatal hypertrypsinogenaemia, normal sweat chloride, and cystic fibrosis

• Published in: Archives of disease in childhood Vol. 82; no. 6; pp. 481 - 482
• Main Authors: Castellani, C, Tamanini, A, Mastella, G
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health 01.06.2000; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Adolescent; Age; Asthma; atypical cystic fibrosis; Babies; Biological and medical sciences; Child Health; Chlorides - analysis; Cystic fibrosis; Cystic Fibrosis - blood; Cystic Fibrosis - diagnosis; Electrolytes; Evidence; Gastroenterology. Liver. Pancreas. Abdomen; General and Specialist Paediatrics; Health care; Humans; hypertrypsinogenaemia; Item Response Theory; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Male; Measurement Techniques; Medical Evaluation; Medical sciences; Mutation; neonatal screening; Neonatal Screening - methods; Neonates; Other diseases. Semiology; Physical Examinations; Screening Tests; Sputum - microbiology; Sweat - chemistry; sweat test; Trypsinogen - blood; Young Children; Human; Sweat test; Respiratory disease; Clinical form; Metabolic diseases; Cystic fibrosis; Male; Genetic disease; Blood plasma; Case study; Trypsinogen; Adolescent; Digestive diseases; Diagnosis; Pancreatic disease
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/adc.82.6.481

The cystic fibrosis (CF) clinical spectrum has greatly expanded in the past few years, including atypical forms with low sweat chloride concentrations. Two cases are presented which suggest that children detected by neonatal CF screening whose trypsinogen concentrations are still raised by the second month of age could, despite a negative sweat test, be affected by an atypical CF with fully expressed pulmonary involvement.