Pancretic disease in cystic fibrosis and alpha-1 antitrypsin deficiency

Karabiber H., SELİMOĞLU M. A.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.44, ss.7-11, 2009 (SCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 44 Konu: 1
  • Basım Tarihi: 2009
  • Sayfa Sayıları: ss.7-11


Cystic fibrosis and alpha-1 antitrypsin deficiency are two important autosomal recessive multi-organ diseases. They are complex and severe diseases that involve various organs including pancreas. Pancreatic disease in cystic fibrosis varies from complete loss of exocrine and endocrine functions to nearly normal pancreatic function. A strong correlation between genotype and phenotype is recognized. Pancreatic involvement is characterized by malabsorption of fat and protein, and growth failure. Fat malabsorption leads to special problems with the fat-soluble vitamins. Enzyme and fat-soluble vitamin replacements are the milestones of the malabsorption treatment. Gene therapy offers the best hope for a cure of cystic fibrosis. Although an association between alpha 1-antitrypsin deficiency and chronic pancreatitis has been reported in several case reports, in prospective studies it has been shown that pancreatitis prevalence in patients with alphal-antitrypsin deficiency was not different from that of healthy controls. Thus it was concluded that alpha-1 antitrypsin deficiency was not related to the pathogenesis of idiopathic or hereditary chronic pancreatitis. However, protective role of alpha-1 antitrypsin against pancreatic auto digestion suggests that the deficiency of that protein may worsen the pancreatic disease rather than causing it. Early detection and management of pancreatic insufficiency is essential to optimize health and outcomes in cystic fibrosis and alpha-1 antitrypsin deficiency patients. (Turk Arch Ped 2009; 44: 7-11)