Abstract
Cystic fibrosis (CF) is the most common lethal inherited disease in white populations with an autosomal recessive inheritance. In about 10% the first symptoms of the disease may appear as early as in the neonatal period. In most cases the clinical manifestations start within the 1st year of life. The disease is characterized — from the clinical point of view — by chronic obstructive lung disease, pancreatic enzyme deficiency, and abnormally high concentration of sweat electrolytes. The primary defect of the different disturbances remains unknown. The problems concerning exocrine gland dysfunction obviously are not the cause but the result of a fundamental inborn error. In one way or another the disease affects every cell and organ system of the body.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsPreview
Unable to display preview. Download preview PDF.
References
Antonowicz I, Ishida S, Shwachman H (1976) Screening for cystic ficrosis. Lancet 1:746–747
Buchanan DJ, Rapoport S (1952) Chemical comparison of normal meconium and meconium from a patient with meconium ileus. Pediatrics 9:304–310
Crossley JR, Berryman CC, Elliot RB (1977) Cystic fibrosis screening in the newborn. Lancet 11:1093–1095
Elliot RB (1978) Cystic fibrosis screening in the newborn. Med Aust 95
Goldbloom RB, Sekelj P (1963) Cystic fibrosis of the pancreas diagnosis by application of sodium electrode to the skin. N Engl J Med 269:1349–1352
Gottschalk B (1976) Four methods of mass-screening in cystic fibrosis and results of 10 000 newborns. 7th International Cystic Fibrosis Congress. May 31.–June 3. 1976. L’Association Française de lutte contre la Mucoviscidosis, Paris
Holsclaw DS, Keith HH, Palmer J (1978) Meconium screening for cystic fibrosis. Pediatr Ann 7:1, 15–20
Johnson GF, Thompson MF, Fetteroff S, Fasano AN (1971) Neutron activation analysis technique for nail sodium concentration in cystic fibrosis patients. Ped 47:88–93
Kollberg H, Hellsing K (1975) Screening for cystic fibrosis by analysis of albumin in meconium. Acta Paediatr Scand 64:477
Kraemer R, Hadorn B, Rossi E (1977) Classification at time of diagnosis and subsequent survival in children with cystic fibrosis. Helv Paediatr Acta 32:107–114
Ryley HC, Neal LM, Brogan TA, Bray BT (1975) Albumin — alpha 1 trypsin inhibitor ratio. Clin Chim Acta 64:117–125
Stephan U, Busch EW, Kollberg H, Hellsing K (1975) Cystic fibrosis detection by means of a test-strip. Ped. 55:35–38
Super M (1975) Cystic fibrosis in the South West African Afrikaner. S Afr Med J 49:818
Szibor R (1973) Eine Modifikation des Zystische-Fibrose-Screening durch Albuminnachweis im Mekonium. Helv Paediatr Acta 28:359–363
Szibor R, Koch G (1977) Zystische Fibrose-Screening durch Untersuchungen an Mekonien im zentralen Laboratorium — positive Erfahrungen einer Pilotstudie. Kinderärztl Prax 5:193–198
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1980 Springer-Verlag Berlin Heidelberg
About this paper
Cite this paper
Stephan, U. (1980). Neonatal Screening for Cystic Fibrosis. In: Bickel, H., Guthrie, R., Hammersen, G. (eds) Neonatal Screening for Inborn Errors of Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-67488-4_8
Download citation
DOI: https://doi.org/10.1007/978-3-642-67488-4_8
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-67490-7
Online ISBN: 978-3-642-67488-4
eBook Packages: Springer Book Archive