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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.

Authors+Show Affiliations

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

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 -