Chronic cough with normal sweat chloride: Phenotypic descriptions of two rare cystic fibrosis genotypes
While our understanding of cystic fibrosis genetics has expanded in recent decades, the genetics and clinical manifestations of the disease remains highly heterogeneous. Diagnosis of CF in non-classical mutations remains a clinical challenge. We describe the clinical presentation of two patients wit...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Elsevier
2016-01-01
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| Series: | Respiratory Medicine Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213007115300605 |
| _version_ | 1818519204459970560 |
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| author | Hemang Yadav Kaiser G. Lim |
| author_facet | Hemang Yadav Kaiser G. Lim |
| author_sort | Hemang Yadav |
| collection | DOAJ |
| description | While our understanding of cystic fibrosis genetics has expanded in recent decades, the genetics and clinical manifestations of the disease remains highly heterogeneous. Diagnosis of CF in non-classical mutations remains a clinical challenge. We describe the clinical presentation of two patients with chronic cough found to have normal sweat chlorides. We discuss the subsequent evaluation that lead to the diagnosis of two rare CF mutations. We briefly discuss the use of the expanded 106-panel of CF mutations (homozygous 3849 + 10 kb C > T), and the role of whole CFTR gene sequencing (heterozygous c.2752-26 A > G/5T). |
| first_indexed | 2024-12-11T01:21:00Z |
| format | Article |
| id | doaj.art-ac0fcea22436459cb0a9e493910d5b84 |
| institution | Directory Open Access Journal |
| issn | 2213-0071 |
| language | English |
| last_indexed | 2024-12-11T01:21:00Z |
| publishDate | 2016-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Respiratory Medicine Case Reports |
| spelling | doaj.art-ac0fcea22436459cb0a9e493910d5b842022-12-22T01:25:43ZengElsevierRespiratory Medicine Case Reports2213-00712016-01-0117C171910.1016/j.rmcr.2015.12.003Chronic cough with normal sweat chloride: Phenotypic descriptions of two rare cystic fibrosis genotypesHemang YadavKaiser G. LimWhile our understanding of cystic fibrosis genetics has expanded in recent decades, the genetics and clinical manifestations of the disease remains highly heterogeneous. Diagnosis of CF in non-classical mutations remains a clinical challenge. We describe the clinical presentation of two patients with chronic cough found to have normal sweat chlorides. We discuss the subsequent evaluation that lead to the diagnosis of two rare CF mutations. We briefly discuss the use of the expanded 106-panel of CF mutations (homozygous 3849 + 10 kb C > T), and the role of whole CFTR gene sequencing (heterozygous c.2752-26 A > G/5T).http://www.sciencedirect.com/science/article/pii/S2213007115300605Cystic fibrosisCFPhenotype3849+10KbC>Tc.2752-26A>G |
| spellingShingle | Hemang Yadav Kaiser G. Lim Chronic cough with normal sweat chloride: Phenotypic descriptions of two rare cystic fibrosis genotypes Respiratory Medicine Case Reports Cystic fibrosis CF Phenotype 3849+10KbC>T c.2752-26A>G |
| title | Chronic cough with normal sweat chloride: Phenotypic descriptions of two rare cystic fibrosis genotypes |
| title_full | Chronic cough with normal sweat chloride: Phenotypic descriptions of two rare cystic fibrosis genotypes |
| title_fullStr | Chronic cough with normal sweat chloride: Phenotypic descriptions of two rare cystic fibrosis genotypes |
| title_full_unstemmed | Chronic cough with normal sweat chloride: Phenotypic descriptions of two rare cystic fibrosis genotypes |
| title_short | Chronic cough with normal sweat chloride: Phenotypic descriptions of two rare cystic fibrosis genotypes |
| title_sort | chronic cough with normal sweat chloride phenotypic descriptions of two rare cystic fibrosis genotypes |
| topic | Cystic fibrosis CF Phenotype 3849+10KbC>T c.2752-26A>G |
| url | http://www.sciencedirect.com/science/article/pii/S2213007115300605 |
| work_keys_str_mv | AT hemangyadav chroniccoughwithnormalsweatchloridephenotypicdescriptionsoftworarecysticfibrosisgenotypes AT kaiserglim chroniccoughwithnormalsweatchloridephenotypicdescriptionsoftworarecysticfibrosisgenotypes |