RT Journal Article
SR Electronic
T1 Clinical presentation of exclusive cystic fibrosis lung disease
JF Thorax
JO Thorax
FD BMJ Publishing Group Ltd and British Thoracic Society
SP 278
OP 281
DO 10.1136/thx.54.3.278
VO 54
IS 3
A1 Inez Bronsveld
A1 Jan Bijman
A1 Frauke Mekus
A1 Manfred Ballmann
A1 Henk J Veeze
A1 Burkhard Tümmler
YR 1999
UL http://thorax.bmj.com/content/54/3/278.abstract
AB The diagnosis of cystic fibrosis (CF) is based on the occurrence of two mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and on assays that measure the basic defect of abnormal chloride transport in the affected organs. However, in cases of atypical CF not all diagnostic tests may be positive. We present a patient with an atypical CF phenotype in whom the only presenting symptom was severe CF-like lung disease substantiated by an abnormal nasal potential difference. Genetic analysis showed that the patient was a symptomatic heterozygote, which suggests that one lesion in theCFTR gene may be sufficient to cause CF-like lung disease.