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Journal of Cystic Fibrosis

Copyright © 2002 European Cystic Fibrosis Society. Published by Elsevier

Science B. V.

Evaluation of a new definition for chronic Pseudomonas aeruginosa

infection in cystic fibrosis patients

Tim W. R. Lee, , a, G. Brownleea, P. Conwaya, Miles Dentonb

and M. Littlewooda

a Leeds Regional Paediatric Cystic Fibrosis Centre, St 's Hospital,

Leeds, UK

b Department of Microbiology, The Leeds Teaching Hospitals NHS Trust,

Leeds, UK

Background: Patients were defined each successive month as either

`chronic' when more than 50% of the preceding 12 months were PA culture

positive, `intermittent' when 50% of the preceding 12 months were PA

culture positive, `free of PA', with no growth of PA for the previous 12

months, having previously been PA culture positive, or `never infected',

when PA had never been cultured. Methods: Cross-sectional analysis of 146

children attending the Leeds Regional Cystic Fibrosis Centre was

performed to assess relationship between the new definition and clinical

scores and investigations. The response variable was regressed on age and

sex and the residuals analysed using the Kruskal–Wallis test. Results:

The `chronic' group (18% of patients) had significantly worse

Shwachman–Kulczycki (SK) and Northern chest X-ray scores, and % predicted

FEV1 values than the `free' (28%) or `never' (20%) categories (P<0.004).

The `intermittent' group (34%) had a significantly higher SK score than

the `chronic' group (P<0.0001), and a significantly lower % predicted

FEV1 value than the `free' or `never' groups (P<0.0003). `Chronic'

patients were significantly associated with a positive, and `never'

patients with a negative, PA antibody result (P<0.001). Conclusions: The

validity and importance of identifying these four subgroups is

demonstrated. Previous definitions may over-estimate the prevalence of

chronic infection.

Corresponding author. Tel: +44-; fax: +44-

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Journal of Cystic Fibrosis

CFTR gene mutations in Japanese individuals with congenital bilateral

absence of the vas deferens

Chieko Anzaia, Nasa Morokawaa, Hiroshi Okadab, Sadao Kamidonob,

Yoshikatsu Etoa and Kunihiko Yoshimura, , a

a Department of Gene Therapy, Institute of DNA Medicine, The Jikei

University School of Medicine, 3-25-8 Nishi-shinbashi, Minato-ku, Tokyo

105-8461, Japan

b Department of Urology, Kobe University School of Medicine, Kobe, Japan

Congenital bilateral absence of the vas deferens (CBAVD) is a

monosymptomatic disease confined to the male reproductive system with

similarity to the phenotype of cystic fibrosis (CF), and mutations in the

CFTR gene are highly prevalent in Caucasian CBAVD patients. While CF is

very rare in Japan, CBAVD is not. Our previous study demonstrated high

prevalence of the 5T allele in the CFTR gene in Japanese CBAVD patients.

We analyzed whole exons of the CFTR gene in 19 CBAVD patients and 53

normal individuals using polymerase chain reaction amplification-single

strand conformation polymorphism analysis and direct sequencing. Three

missense mutations (W216X, G1349S, Q1352H) were found in seven CFTR

alleles, and the 5T allele was positive in 11 of 38 CFTR patient alleles.

Consequently, 47% of CFTR chromosomes in the patients were affected, and

11 individuals (58%) had at least one mutated CFTR allele. In contrast,

three of 53 normal individuals (5.7%) had a missense mutation in one of

the CFTR genes, but no 5T allele was detected (both P<0.0001). Mutations

of the CFTR gene are closely associated with Japanese patients with

CBAVD.

Corresponding author. Tel.: +81-3-3433-1111x2345; fax: +81-3-3433-1230

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Journal of Cystic Fibrosis

Granulomatous diseases in a patient with cystic fibrosis

J. Dobbin, Carmel Moriarty and T. P. Bye,

Department of Respiratory Medicine, E 11 South, Royal Prince Alfred

Hospital, Missenden Road, Camperdown NSW 2050, Australia

We report the case of an adult with Crohn's disease and pulmonary

sarcoidosis on the background of cystic fibrosis (CF). There is a

recognized association between Crohn's colitis and CF, but cases of

pulmonary sarcoidosis in CF are rare. There may be a pathogenic link

between the two granulomatous disorders and CF with chronic immune

stimulation leading to hyperimmunoglobulinemia, circulating immune

complexes and subsequent granuloma formation.

Corresponding author. Tel.: +61-2-9515-7427; fax: +61-2-9515-8196

Becki

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