Journal article
Normal Sweat Chloride Values Do Not Exclude the Diagnosis of Cystic Fibrosis
American journal of respiratory and critical care medicine, Vol.151(3_pt_1), pp.899-903
03/1995
DOI: 10.1164/ajrccm/151.3_Pt_1.899
PMID: 7533604
Abstract
Since its introduction in 1959, the sweat test has remained the “gold standard” diagnostic test for cystic fibrosis (CF). It is apparent that CF encompasses a wide spectrum of disease, from meconium ileus and severe respiratory compromise in infants to the presentation of mild pulmonary symptoms and no evidence of gastrointestinal disease in adults. In patients with lung disease that might otherwise be consistent with CF, normal sweat chloride (CI−) values have tended to exclude the diagnosis. In this report we describe two patients from two families with the compound heterozygotic CF mutations ΔF508/3849 + 10 kb C→T. These patients had mild manifestations of disease, including clinical pancreatic sufficiency (normal growth without pancreatic enzyme supplementation) and absence of azoospermia. Sweat CI− values were in the normal range. However, both patients developed bronchiectasis, progressive obstructive lung disease, and colonization with Pseudomonas. The diagnosis of CF was made using nasal transepithelial voltage measurements and genotyping. These cases emphasize the need to maintain a high index of suspicion of CF in atypical cases, and to pursue alternative diagnostic tests to confirm a diagnosis of CF suspected on clinical grounds, despite normal sweat test results.
Details
- Title: Subtitle
- Normal Sweat Chloride Values Do Not Exclude the Diagnosis of Cystic Fibrosis
- Creators
- Barbara StewartJoseph ZabnerAnthony P ShuberMichael J WelshPaul B McCray
- Resource Type
- Journal article
- Publication Details
- American journal of respiratory and critical care medicine, Vol.151(3_pt_1), pp.899-903
- DOI
- 10.1164/ajrccm/151.3_Pt_1.899
- PMID
- 7533604
- ISSN
- 1073-449X
- eISSN
- 1535-4970
- Language
- English
- Date published
- 03/1995
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Pulmonary, Critical Care, and Occupational Medicine; Microbiology and Immunology; Pulmonary Medicine; Stead Family Department of Pediatrics; Neurosurgery; Internal Medicine
- Record Identifier
- 9984020754002771
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