Zielezińska L, Szaflarska-Szczepanik A
Katedry i Kliniki Pediatrii, Aleroglogii i Gastroenterologii Akademii Medycznej im. L. Rydygiera w Bydgoszczy.
Pol Merkur Lekarski. 2000 Jan;7(43):43-4.
In this study we have presented the diagnostic difficulties in a child with cystic fibrosis recognised basing on the clinical picture of the disease, together with two elevated values of sweat chloride tests. The diagnosis was confirmed by an identification of delta F 508 mutation on both cystic fibrosis chromosomes. Normal sweat test results in a first stage of diagnosis performed twice in a newborn period were a factor which delated the diagnosis.
在本研究中，我们介绍了一名患有囊性纤维化的儿童在诊断过程中遇到的困难。该诊断基于疾病的临床表现以及两次汗氯测试值升高而确定。通过在两条囊性纤维化染色体上均鉴定出ΔF508突变，确诊得以证实。在新生儿期进行的两次诊断初期的汗测试结果正常，这是导致诊断延迟的一个因素。
