chronic cough with normal sweat chloride: phenotypic descriptions of two rare cystic fibrosis genotypes

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ID: 200718

2016

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Abstract

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).

Reference Key	yadav2016respiratorychronic Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors	;Hemang Yadav;Kaiser G. Lim
Journal	current treatment options in cardiovascular medicine
Year	2016
DOI	10.1016/j.rmcr.2015.12.003
URL	http://www.sciencedirect.com/science/article/pii/S2213007115300605 https://doi.org/10.1016/j.rmcr.2015.12.003
Keywords	cystic fibrosis phenotype cf 2752-26a>gdiseases of the respiratory system

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