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What is a cystic fibrosis diagnosis?
Clin Chest Med 1998; 19(3):423-41, vCC

Abstract

Cystic fibrosis (CF) should be considered in patients with a wide variety of clinical presentations and of diverse racial and ethnic backgrounds. In most cases the diagnosis is suggested by manifestations of chronic sinopulmonary disease and exocrine pancreatic insufficiency, and then confirmed by a positive sweat test result. Patients may, however, present with pancreatic sufficiency or other atypical clinical features, sometimes in association with normal or borderline sweat test results. In such cases, the ability to detect CF mutations and to measure transepithelial bioelectric properties can be diagnostically useful. Mutation analysis can also be used for carrier screening, prenatal diagnosis, and newborn screening.

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  • Publisher Full Text

    • Authors+Show Affiliations

    Rosenstein BJ
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

    MeSH

    ChildCystic FibrosisDNA Mutational AnalysisDiagnosis, DifferentialHeterozygoteHumansInfantInfant, NewbornPhenotype

    Pub Type(s)

    Journal Article
    Review

    Language

    eng

    PubMed ID

    9759547

    Citation

    Rosenstein, B J.. "What Is a Cystic Fibrosis Diagnosis?" Clinics in Chest Medicine, vol. 19, no. 3, 1998, pp. 423-41, v.
    Rosenstein BJ. What is a cystic fibrosis diagnosis? Clin Chest Med. 1998;19(3):423-41, v.
    Rosenstein, B. J. (1998). What is a cystic fibrosis diagnosis? Clinics in Chest Medicine, 19(3), pp. 423-41, v.
    Rosenstein BJ. What Is a Cystic Fibrosis Diagnosis. Clin Chest Med. 1998;19(3):423-41, v. PubMed PMID: 9759547.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - What is a cystic fibrosis diagnosis? A1 - Rosenstein,B J, PY - 1998/10/6/pubmed PY - 1998/10/6/medline PY - 1998/10/6/entrez SP - 423-41, v JF - Clinics in chest medicine JO - Clin. Chest Med. VL - 19 IS - 3 N2 - Cystic fibrosis (CF) should be considered in patients with a wide variety of clinical presentations and of diverse racial and ethnic backgrounds. In most cases the diagnosis is suggested by manifestations of chronic sinopulmonary disease and exocrine pancreatic insufficiency, and then confirmed by a positive sweat test result. Patients may, however, present with pancreatic sufficiency or other atypical clinical features, sometimes in association with normal or borderline sweat test results. In such cases, the ability to detect CF mutations and to measure transepithelial bioelectric properties can be diagnostically useful. Mutation analysis can also be used for carrier screening, prenatal diagnosis, and newborn screening. SN - 0272-5231 UR - https://www.unboundmedicine.com/medline/citation/9759547/What_is_a_cystic_fibrosis_diagnosis L2 - https://linkinghub.elsevier.com/retrieve/pii/S0272-5231(05)70091-5 DB - PRIME DP - Unbound Medicine ER -