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  Vol. 133 No. 1, January 2007 TABLE OF CONTENTS
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  Clinical Problem Solving: Radiology
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 •Genetics of Head & Neck Disease
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Radiology Quiz Case 1: Diagnosis

Arch Otolaryngol Head Neck Surg. 2007;133(1):92.

Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Diagnosis: Cystic fibrosis (CF)

Based on the patient's clinical symptoms and radiographic findings, the operating surgeon suspected a diagnosis of CF and ordered a sweat test, which revealed an elevated sweat chloride concentration (104 mEq/L [reference range, 0-40 mEq/L]) and confirmed the diagnosis of CF.

Cystic fibrosis, which is autosomal recessive, is the most common lethal genetic disorder in the white population (1/2000).1 It is caused by a genetic defect on chromosome 7 that involves the CF transmembrane conductance regulator protein. As a result, there is a deficiency in chloride ion export from epithelial cells on the apical cell membrane in exocrine glands, specifically in the pancreatic ducts in the pancreas and respiratory epithelium located in the nasal cavity, sinuses, and tracheal bronchial tree. A decrease in membrane chloride permeability leads to an increased flow of neutralizing sodium in the cells, with passive free water absorption. Subsequently, dehydration of extracellular secretions can increase the . . . [Full Text of this Article]



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RELATED ARTICLE

Radiology Quiz Case 1
Sivi Bakthavachalam and John McClay
Arch Otolaryngol Head Neck Surg. 2007;133(1):90.
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