DIAGNOSIS AND MAIN CLINICAL FEATURES OF CYSTIC FIBROSIS WITH SPECIAL ATTENTION TO SCREENING PROCEDURES

Abstract

Kollberg, H. (Department of Paediatrics, University of Umeå, Umeå, Sweden). Diagnosis and main clinical features of cystic fibrosis with special attention to screening procedures. Acta Paediatr Scand 1982; suppl 301:15‐25. – The diagnosis of cystic fibrosis (CF) must be based on a combination of clinical observations of all symptoms and the results of laboratory tests. The numerous symptoms from the respiratory and gastrointestinal tracts and from the sweat glands are briefly described and the specific diagnostic tests referring to these systems are enumerated. CF is a common disease which constitutes a substantial problem both for the individuals concerned and for the community. Screening most probably would result in an improvement for the early diagnosed patients with respect both to survival and to physical function. The society has the means to provide resources both for confirming the diagnosis and for providing complete long‐term therapy for CF patients, but the diagnostic and therapeutic possibilities need to be organized more firmly. Alternative ways of diagnosis other than screenning are unsatisfactory and lead to a diagnostic delay which most probably is detrimental for the patient. Promising screening tests are on the way; the test for trypsin in serum, in particular, seems to be specific, non‐injurious to the patient and applicable to all newborns in countries with Caucasian populations, but it remains to be seen whether it is sufficiently sensitive and inexpensive. It is concluded that CF is a top ranked candidate for general screening in the neonatal period and further intensive studies in this field must get every support. The multicentre study for screening, proposed and supported by ICF(M)A is heartily welcomed.