[Mucoviscidosis screening with immunoreactive trypsin. Initial experiences in Austria]. 1992

E Eber, and M Zach, and H Engele, and J Haas, and P Pürstner, and I Mutz, and H Litscher
Universitäts-Kinderklinik, Graz.

Up to now, 16.338 IRT-measurements have been carried out on dried blood spot specimens; 15.505 of them were taken in the first week of life. Related to a provisionally chosen cut-off point of 750 ng/ml, 134 newborns (= 0.86%) showed an elevated IRT-value and subsequently were recalled between the fourth and sixth week of life for a second IRT-determination. Twenty-five out of 116 reinvestigated children again showed an elevated value, as based on likewise provisional, age-dependent reference values. Four of these children subsequently were identified as CF patients by sweat testing. So far, we did not encounter any false-negative IRT values. We also commenced to establish a profile of reference values for the first twelve weeks of life; as yet, there are not enough data for definitely defining these limits of normality. In conclusion, IRT-screening appears to be a reliable method for identifying CF patients in the newborn period. Our preliminary results indicate an incidence of CF of 1 to 3880 in the southeast of Austria.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D011863 Radioimmunoassay Classic quantitative assay for detection of antigen-antibody reactions using a radioactively labeled substance (radioligand) either directly or indirectly to measure the binding of the unlabeled substance to a specific antibody or other receptor system. Non-immunogenic substances (e.g., haptens) can be measured if coupled to larger carrier proteins (e.g., bovine gamma-globulin or human serum albumin) capable of inducing antibody formation. Radioimmunoassays
D012016 Reference Values The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality. Normal Range,Normal Values,Reference Ranges,Normal Ranges,Normal Value,Range, Normal,Range, Reference,Ranges, Normal,Ranges, Reference,Reference Range,Reference Value,Value, Normal,Value, Reference,Values, Normal,Values, Reference
D003430 Cross-Sectional Studies Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with LONGITUDINAL STUDIES which are followed over a period of time. Disease Frequency Surveys,Prevalence Studies,Analysis, Cross-Sectional,Cross Sectional Analysis,Cross-Sectional Survey,Surveys, Disease Frequency,Analyses, Cross Sectional,Analyses, Cross-Sectional,Analysis, Cross Sectional,Cross Sectional Analyses,Cross Sectional Studies,Cross Sectional Survey,Cross-Sectional Analyses,Cross-Sectional Analysis,Cross-Sectional Study,Cross-Sectional Surveys,Disease Frequency Survey,Prevalence Study,Studies, Cross-Sectional,Studies, Prevalence,Study, Cross-Sectional,Study, Prevalence,Survey, Cross-Sectional,Survey, Disease Frequency,Surveys, Cross-Sectional
D003550 Cystic Fibrosis An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001317 Austria A country located in Central Europe, north of Italy and Slovenia. The capital is Vienna.
D014357 Trypsin A serine endopeptidase that is formed from TRYPSINOGEN in the pancreas. It is converted into its active form by ENTEROPEPTIDASE in the small intestine. It catalyzes hydrolysis of the carboxyl group of either arginine or lysine. EC 3.4.21.4. Tripcellim,Trypure,beta-Trypsin,beta Trypsin
D015994 Incidence The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from PREVALENCE, which refers to all cases in the population at a given time. Attack Rate,Cumulative Incidence,Incidence Proportion,Incidence Rate,Person-time Rate,Secondary Attack Rate,Attack Rate, Secondary,Attack Rates,Cumulative Incidences,Incidence Proportions,Incidence Rates,Incidence, Cumulative,Incidences,Person time Rate,Person-time Rates,Proportion, Incidence,Rate, Attack,Rate, Incidence,Rate, Person-time,Rate, Secondary Attack,Secondary Attack Rates

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