Mutations in cystic fibrosis transmembrane conductance regulator (CFTR), cationic trypsinogen (PRSS1), and pancreatic secretory inhibitor (PSTI/SPINK1) genes in alcoholics with either chronic pancreatitis or liver disease

2003 ◽  
Vol 124 (4) ◽  
pp. A582
Author(s):  
Francesco Perri ◽  
Ada Piepoli ◽  
Vito Annese ◽  
Antonio Merla ◽  
Angelo Andriulli
Keyword(s):  
Cystic Fibrosis ◽  
Chronic Pancreatitis ◽  
Liver Disease ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Cationic Trypsinogen ◽  
Cystic Fibrosis Transmembrane

Cystic fibrosis-associated liver disease

2011 ◽  
Author(s):  
R. Mark Beattie ◽  
Anil Dhawan ◽  
John W.L. Puntis
Keyword(s):  
Cystic Fibrosis ◽  
Liver Disease ◽  
Autosomal Recessive ◽  
Biliary Cirrhosis ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Gene Coding ◽  
Severe Cirrhosis ◽  
Cystic Fibrosis Transmembrane ◽  
Biochemical Abnormalities

Pathophysiology 162Clinical features 162Diagnosis 163Management 164Cystic fibrosis (CF) is an autosomal recessive disease resulting from mutations in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) (see Chapter 21). CFTR functions as a transmembrane chloride channel in the apical membrane of most secretory epithelia and the disease thus affects lungs, pancreas, exocrine glands, gut, and liver. In CF-associated liver disease the biliary tract is most commonly involved in a spectrum from asymptomatic to biliary cirrhosis. The liver disease runs from mild and subclinical to severe cirrhosis and portal hypertension. Clinical disease is seen in 4–6% of cases, but there are biochemical abnormalities in 20–50%. At autopsy, fibrosis is present in 20% and steatosis in 50%....

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