The diagnosis of cystic fibrosis: A consensus statement,☆☆,,★★

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Abstract

Note: The Consensus Conference Program was initiated by the Cystic Fibrosis Foundation (CFF) about a decade ago to synthesize the knowledge of experts on a selected topic in cystic fibrosis (CF) patient care together with the current literature. The goal is to establish guidelines for patient care. Whenever the need to examine a topic in patient care is apparent, CFF organizes a conference to review current knowledge. Two chairpersons are recruited on the basis of their level of expertise on that topic; a panel of 20 to 30 CF care givers and other experts on the chosen topic is then selected to share their expertise and ideas throughout the meeting. These 2-day meetings culminate in the consensus panel arriving at recommendations that reflect current trends while also anticipating future areas critical to patient care. The aims of the consensus document are provision of a uniform level of care to all patients with CF, education of CF care givers, and suggestions for future research.—Robert J. Beall, PhD

J Pediatr 1998;132:589-95

Section snippets

Criteria for the Diagnosis of CF

It is the consensus of the panel that the diagnosis of CF should be based on the presence of one or more characteristic phenotypic features (Table II), a history of CF in a sibling, or a positive newborn screening test result plus laboratory evidence of a CFTR abnormality as documented by elevated sweat chloride concentration, or identification of mutations in each CFTR gene known to cause CF or in vivo demonstration of characteristic abnormalities in ion transport across the nasal epithelium.

Sweat Test

In most cases the diagnosis of CF will be confirmed by measurement of chloride concentration in sweat after iontophoresis of pilocarpine. Sweat testing should be carried out in accordance with the guidelines of the National Committee for Clinical Laboratory Standards.23 It is crucial that testing be carried out by experienced personnel using standardized methods in facilities that perform adequate numbers of tests to maintain laboratory proficiency and quality control. The only acceptable

Ancillary Tests to Assess the Patient's Phenotype

In patients who initially have an “atypical” phenotype, it is important to carry out a comprehensive clinical, radiographic, and laboratory evaluation (Table IV) for features known to be consistent with the CF phenotype or for alternative diagnoses.

. Clinical evaluation of atypical cases

1.Respiratory tract microbiology
2.Assessment for bronchiectasis
a.Plain radiography
b.Computed tomography
3.Evaluation of paranasal sinuses
a.Plain radiography
b.Computed tomography
4.Quantitative assessment of

Summary

The diagnostic criteria proposed here are not likely to cover every possible clinical scenario, and there will be clinical dilemmas. For the vast majority of patients with CF, the diagnosis will be suggested by the presence of one or more characteristic clinical features, a history of CF in a sibling, or a positive newborn screening test result and will then be confirmed by laboratory evidence of CFTR dysfunction (Table V).

. Criteria for the diagnosis of CF

One or more characteristic phenotypic

Future Directions

This consensus statement should be viewed as a work in progress that reflects our current state of knowledge. It will need to be updated and refined as we: (1) develop new insights concerning the CF phenotype; (2) more precisely define the normal, borderline, and abnormal range for the sweat test results; (3) further define the role for nasal PD and other diagnostic methods such as measurement of intestinal currents52; and (4) identify additional CF-causing mutations.

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    *Thomas F. Boat, MD, Andre M. Cantin, MD, Henry L. Dorkin, MD, Peter Durie, MD, Stacey FitzSimmons, PhD, Michael Knowles, MD, Lisa Saiman, MD, and Elizabeth Tullis, MD.

    ☆☆

    From Department of Pediatrics and Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland.

    Reprint requests: Beryl J. Rosenstein, MD, Cystic Fibrosis Center, Johns Hopkins Children's Center, Park 316, 600 North Wolfe St., Baltimore, MD 21287-2533.

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    0022-3476/98/$5.00 + 0 9/21/86804

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