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CFTR Heterozygotes Are at Increased Risk of Respiratory Infections: A Population-Based Study.

Abstract：

Background:Patients heterozygous for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene may be more susceptible to respiratory infections than the general population. Methods :We conducted a retrospective case-control study using health insurance claims. We identified patients as either highly likely to be CFTR heterozygotes (CF carriers diagnosed during genetic counseling, parents of children with a diagnosis of CF, and children of mothers diagnosed with CF) or likely CFTR heterozygotes (children of CF carriers diagnosed during genetic counseling and parents of CF carriers diagnosed during genetic counseling). Next, we examined the rates of respiratory infections and antimicrobial prescriptions between both groups of CFTR patients and only the highly likely subcohort, compared with age/sex-matched controls. We examined the presence of any claim using McNemar's test and the number of claims using the sign test. Results:CFTR heterozygotes (the pooled highly likely and likely heterozygotes) were more prone to have at least 1 claim for a respiratory infection (odds ratio [OR], 1.28; P = .020) and to have a greater number of claims for respiratory infections (53.5%; P = .043) than controls. Patients in the highly likely cohort were also more prone to have at least 1 claim for a respiratory infection (OR, 1.30; P = .028) and more claims (54.3%; P = .039) than controls. In addition, the highly likely CFTR heterozygotes were more prone to be prescribed an antibiotic used to treat respiratory infections (OR, 1.34; P = .018) and to have more of these prescriptions (54.3%; P = .035) than controls. Conclusions:Patients heterozygous for CFTR mutations are at higher risk for respiratory infections. Future work to describe clinical outcomes for CFTR heterozygotes is needed.

journal_name

Open Forum Infect Dis

journal_title

Open forum infectious diseases

authors

Polgreen PM,Brown GD,Hornick DB,Ahmad F,London B,Stoltz DA,Comellas AP

doi

10.1093/ofid/ofy219

subject

Has Abstract

pub_date

2018-11-01 00:00:00

pages

ofy219

issue

11

issn

2328-8957

pii

ofy219

journal_volume

5

pub_type

杂志文章

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