scholarly journals Motion-Genetic Testing is Useful in the Diagnosis of Nonhereditary Pancreatic Conditions: Arguments Against the Motion

2003 ◽  
Vol 17 (1) ◽  
pp. 53-55 ◽  
Author(s):  
Jonathan A Cohn
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Testing ◽  
Gene Interactions ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Lung Disease ◽  
Increased Risk ◽  
Idiopathic Chronic Pancreatitis ◽  
Cystic Fibrosis Transmembrane ◽  
Compound Heterozygotes

Mutations of two genes, the cystic fibrosis transmembrane conductance regulator gene (CFTR) and the pancreatic secretory trypsin inhibitor gene (PSTI), are associated with an increase in the risk of idiopathic chronic pancreatitis. Persons who have mutations of bothCFTRalleles (one severely and one mildly affected) are especially susceptible to this disease. Because these compound heterozygotes have sufficient residualCFTRfunction, they do not develop cystic fibrosis lung disease. OnePSTImutation, N34S, independently increases the risk of pancreatitis. Thus, the risk of pancreatitis is greatest among individuals who areCFTRcompound heterozygotes and who also have thePSTImutation. Nonetheless, most people withCFTRandPSTImutations do not develop pancreatitis. This fact indicates that environmental influences and gene-gene interactions also affect pancreatitis risk. AlthoughCFTRandPSTIgenetic testing can identify persons at an increased risk of pancreatitis, there are several reasons why the routine screening of individuals with nonhereditary pancreatitis is not recommended at this time: most disease-associated mutations are not detected by readily available techniques, genetic counselling guidelines do not exist, most patients with mutations do not develop pancreatitis and the results of testing do not affect the clinical management of pancreatitis.

Coupled secretion of chloride and mucus in skin of Xenopus laevis: possible role for CFTR

1994 ◽  
Vol 267 (2) ◽  
pp. C491-C500 ◽  
Author(s):  
J. F. Engelhardt ◽  
S. S. Smith ◽  
E. Allen ◽  
J. R. Yankaskas ◽  
D. C. Dawson ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Xenopus Laevis ◽  
Salt Water ◽  
Mucous Cell ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Specific Expression ◽  
Cystic Fibrosis Lung Disease ◽  
Cystic Fibrosis Transmembrane

We used the isolated skin of Xenopus laevis to investigate the relationship between the secretion of salt, water, and mucus by submucosal glands expressing the cystic fibrosis transmembrane conductance regulator (CFTR). In situ hybridization and immunofluorescence provided evidence for specific expression of CFTR in the mucus-secreting cells of the subepidermal glands. Stimulation of isolated sheets of skin with 8-(4-chlorophenylthio)-adenosine 3',5'-cyclic monophosphate produced active Cl secretion and a marked increase in tissue conductance that was correlated with mucous cell degranulation and the distention of the glandular ducts. This coordinated increase in active secretion of salt and mucus was abolished by pretreatment of skins with bumetanide or by removing Cl from the bathing solutions. These results provide evidence for an intimate coupling between electrolyte transport and mucus secretion that may illuminate the pathophysiology of mucus-producing glands in cystic fibrosis lung disease.

scholarly journals The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis

2011 ◽  
Vol 2011 ◽  
pp. 1-4
Author(s):  
Kate H. Cole ◽  
Patrick R. Sosnay ◽  
Lonny B. Yarmus ◽  
Jonathan B. Zuckerman
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Testing ◽  
Delayed Diagnosis ◽  
Late Complications ◽  
Transmembrane Conductance Regulator ◽  
The Novel ◽  
Transmembrane Conductance ◽  
Respiratory Compromise ◽  
Mild Phenotype ◽  
Cystic Fibrosis Transmembrane

Cystic fibrosis (CF) is an autosomal recessive disease that may be caused by more than 1000 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We describe the case of a CF patient who was initially diagnosed at 16 years of age after presenting with mild respiratory compromise and pancreatic sufficiency. When genetic testing was first performed using a CF mutation panel, only a single F508del CFTR allele was identified. We subsequently performed testing, which revealed a previously unreported mutation: A457P (p.Ala457Pro, c.1369G>C). The patient's clinical course through adulthood is described, and genotype-phenotype correlation is discussed. The A457P mutation appears to confer a relatively mild phenotype, as is usually observed with CFTR class IV–VI defects. With the advent of more comprehensive and widely available genetic testing techniques, identification of CF genotypes in patients with milder disease variants may help stratify patients for targeted therapy and prevent late complications of the disease.

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