title: A pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes.
abstract: A cystic fibrosis (CF) heterozygote incidence higher than in the general population has been repeatedly reported in conditions which include clinical features found in CF, like pancreatitis, disseminated bronchiectasis, and allergic bronchopulmonary aspergillosis. Some cases may be explained by an unidentified compound heterozygosity; others could be manifesting heterozygotes. This study was aimed at detecting the incidence of CF-related clinical features in a population of carriers. A group of 261 obligate heterozygotes (mean age, 44 years) and a control group, composed of 201 individuals negative for a standard mutation panel (mean age, 36 years), were surveyed for possibly CF-related conditions (asthma, bronchiectasis, pneumothorax, allergic bronchopulmonary aspergillosis, sinusitis, nasal polyps, gallstones, liver cirrhosis, diabetes, pancreatitis, bone fractures, plus hypertension). A questionnaire was administered, and the accuracy of the statements was evaluated by phone interviews. There was no difference between heterozygotes and controls, with the exception of hypertension (carriers 28/261, controls 7/201, p = 0.004), and, in males, nasal polyps (carriers 7/126, controls 0/102, p value = 0.0178), and, again, hypertension (carriers 17/126, controls 5/102, p value = 0.0407). To avoid age bias, 126 heterozygotes matched to controls of the same gender and age were separately processed: these two groups showed no significant differences. CF-related clinical manifestations in obligate CFTR mutation heterozygotes are not more represented than in individuals with a low risk of being carriers.
authors.affiliation: Cystic Fibrosis Center, Ospedale Civile Maggiore, Azienda Ospedaliera Verona, Piazzale Stefani 1, 37126 Verona, Italy. carlo.castellani@mail.azosp.vr.it
authors.forename: C
authors.initials: C
authors.lastname: Castellani
authors.forename: C
authors.initials: C
authors.lastname: Quinzii
authors.forename: S
authors.initials: S
authors.lastname: Altieri
authors.forename: G
authors.initials: G
authors.lastname: Mastella
authors.forename: B M
authors.initials: BM
authors.lastname: Assael
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D003550:Cystic Fibrosis / Q000150:complications* / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D010865:Pilot Projects
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator