Re: carriers (study abstract included)

[Guest guest]

I forgot that Hopkins did a study as recently as three years ago. They're

the ones that found higher incidences of sinusitus

among CF carriers. One of the dads in that study (along with the rest of his

family) was on the Cystic-L and he reported it. I couldn't

find that particular study on PubMed, but I did find others. Two are copied

below.

Maybe doctors who deny the CF-carrier connection should learn to read.

Kim

JAMA. 2000 Oct 11; 284(14): 1814-9.

Mutation in the gene responsible for cystic fibrosis and predisposition to

chronic rhinosinusitis in the general population.

Wang X, Moylan B, Leopold DA, Kim J, stein RC, Togias A, Proud D, Zeitlin

PL, Cutting GR.

McKusick-s Institute of Genetic Medicine, CMSC 1004, Baltimore, MD 21287,

USA.

CONTEXT: Chronic rhinosinusitis (CRS) is a common condition in the US general

population, yet little is known about its underlying

molecular cause. Chronic rhinosinusitis is a consistent feature of the autosomal

recessive disorder cystic fibrosis (CF). OBJECTIVE:

To determine whether mutations in the cystic fibrosis transmembrane regulator

(CFTR) gene, which is responsible for CF, predispose

to CRS. DESIGN: Case-control study conducted from 1996 to 1999 in which the DNA

of CRS patients and controls was typed for 16

mutations that account for 85% of CF alleles in the general population. Chronic

rhinosinusitis patients with 1 CF mutation were

evaluated for a CF diagnosis by sweat chloride testing, nasal potential

difference measurement, and DNA analysis for additional

mutations. SETTING: Otolaryngology-head and neck clinic of a US teaching

hospital. PARTICIPANTS: One hundred forty-seven

consecutive adult white patients who met stringent diagnostic criteria for CRS

and 123 CRS-free white control volunteers of similar age

range, geographic region, and socioeconomic status. MAIN OUTCOME MEASURES:

Presence of CF mutations by DNA analysis

among CRS patients vs controls. RESULTS: Eleven CRS patients were found to have

a CF mutation (DeltaF508, n = 9; G542X, n = 1;

and N1303K, n = 1). Diagnostic testing excluded CF in 10 of these patients and

led to CF diagnosis in 1. Excluding this patient from

the analyses, the proportion of CRS patients who were found to have a CF

mutation (7%) was significantly higher than in the control

group (n = 2 [2%]; P =.04, both having DeltaF508 mutations). Furthermore, 9 of

the 10 CF carriers had the polymorphism M470V, and

M470V homozygotes were overrepresented in the remaining 136 CRS patients (P

=.03). CONCLUSION: These data indicate that

mutations in the gene responsible for CF may be associated with the development

of CRS in the general population. JAMA.

2000;284:1814-1819.

PMID: 11025834 [PubMed - indexed for MEDLINE]

--------------------------------------------------

Pediatrics. 2002 Jan; 109(1): E13.

Increased prevalence of mutations in the cystic fibrosis transmembrane

conductance regulator in children with chronic rhinosinusitis.

Raman V, Clary R, Siegrist KL, Zehnbauer B, Chatila TA.

Department of Pediatrics, Washington University School of Medicine and St Louis

Children's Hospital, St Louis, Missouri, USA.

OBJECTIVE: Chronic rhinosinusitis results in significant morbidity in the

pediatric population; however, no predisposing factor is found

in many cases. Cystic fibrosis (CF) is a recognized cause of chronic

rhinosinusitis. Although the carrier frequency for CF ranges from

3% to 4% in the general white population, the prevalence of mutations in the CF

transmembrane conductance regulator (CFTR) among

children with chronic rhinosinusitis is unknown. Our objective was to study the

frequency of CFTR mutations among children with

chronic rhinosinusitis. METHODS: Fifty-eight white children who were from the St

Louis metropolitan area and had chronic

rhinosinusitis, none of whom satisfied diagnostic criteria for CF, underwent

sweat testing and genotyping for CFTR mutations using an

assay that detects 90% of mutations seen in this ethnic group. RESULTS: Seven of

the 58 patients (12.1%) tested harbored CFTR

mutations as compared with the expected rate of 3% to 4% in this ethnic group.

Five patients had the DeltaF508, 1 had the R117H,

and 1 had the I148T mutation. Only 1 of the 7 children had a borderline abnormal

sweat test. Two of the 58 patients experienced

recurrent Pseudomonas aeruginosa rhinosinusitis, and both were DeltaF508

heterozygotes. Three other children with no detectable

CFTR mutation had borderline elevated sweat-test results. The CFTR intron 8 5T

polymorphism was found at a frequency comparable

to that reported for the general population. CONCLUSION: There is an increased

occurrence of CFTR mutations in children who have

chronic rhinosinusitis and do not meet diagnostic criteria for CF, usually in

the setting of a normal sweat chloride. These results

suggest a role for CFTR mutations in predisposition to chronic rhinosinusitis.

PMID: 11773581 [PubMed - indexed for MEDLINE]