TY - JOUR T1 - Late CF caused by homozygous IVS8-5T CFTR polymorphism JF - Thorax JO - Thorax SP - 974 LP - 975 DO - 10.1136/thx.2005.048207 VL - 60 IS - 11 AU - V Cottin AU - Y Thibout AU - F Bey-Omar AU - I Durieu AU - L Laoust AU - Y Morel AU - J-F Cordier Y1 - 2005/11/01 UR - http://thorax.bmj.com/content/60/11/974.2.abstract N2 - The distribution of cystic fibrosis (CF) transmembrane conductance regulator (CFTR) genotypes is not well characterised in patients with CF diagnosed after childhood, the majority of whom are compound heterozygotes for ΔF508.1 We describe such a patient with a rare genotype more commonly associated with inherited infertility in males. A 54 year old man who had never smoked was referred with bilateral bronchiectasis and chronic sinusitis. He had no known allergy, no history of pancreatitis, and no family history of CF or consanguinity. Obstructive infertility with azoospermia had been established by spermography. The patient reported recurrent lower respiratory tract infections since childhood and pneumonia at the age of 45. He had undergone sinus surgery for nasal polyposis. CF was suspected. A first sweat test was positive with a chloride concentration of 65 mmol/l (normal <40 mmol/l). The patient had chronic cough productive of purulent sputum, mild dyspnoea, chronic nasal obstruction with … ER -