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cystic fibrosis

 

Definition: a congenital metabolic disorder in which secretions of exocrine glands are abnormal; excessively viscid mucus causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi), and the sodium and chloride content of sweat is increased throughout the patient's life; symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. Detailed genetic mapping and molecular biology have been accomplished by the methods of reverse genetics; autosomal recessive inheritance, caused by mutation in the cystic fibrosis conductance regulator gene (CFTR) on chromosome 7q.

Synonym(s): Clarke-Hadfield syndrome, fibrocystic disease of the pancreas, mucoviscidosis, viscidosis

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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