Anatomic Pathology: Pediatric and Placental Pathology

• Cystic fibrosis (CF) is an autosomal recessive disorder. Carriers are generally unaffected.

• The most common problems are chronic respiratory infections and pancreatic enzyme deficiency.

• Endstage lung disease is the most common cause of death.

• Newborn screening for CF is offered throughout the United States.

• Nearly 1,900 mutations in the cystic fibrosis transmembrane regulator(CFTR) have been found; the most common mutation is deltaF508.

Gangell C, Gard S, Douglas T, et al: Inflammatory responses to individual microorganisms in the lungs of children with cystic fibrosis. Clin Infect Dis 2011 Sep;53(5):425-432.

Finkbeiner WE, Zlock LT, Morikawa M, et al: Cystic fibrosis and the relationship between mucin and chloride secretion by cultures of human airway gland mucous cells. Am J Physiol Lung Cell Mol Physiol 2011 Oct;301(4):L402-414.

Valdivieso ÁG, Marín MC, Clauzure M, et al: Measurement of cystic fibrosis transmembrane conductance regulator activity using fluorescence spectrophotometry. Anal Biochem 2011 Nov 15;418(2):231-237.

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