Hamza Karabiber, Mukadder Ayşe Selimoğlu

Kistik fibroz ve alfa 1 antitripsin eksikliğinde pankreatik tutulum Çağrılı Editör

Kistik fibroz ve alfa 1 antitripsin eksikliği birçok sistemi tutan genetik kökenli otozomal çekinik geçişli iki önemli hastalıktır Her iki hastalığın ortak olarak etkileyebildiği organlardan birinin de pankreas olduğu bilinmektedir Kistik fibroz’da pankreatik tutulum normale yakın pankreas işlevinden endokrin ve ekzokrin işlevlerinin tamamen kaybına kadar değişen klinik tablolara yol açar Hastalığın genotipi ile fenotipi arasında yakın bir ilişki vardır Pankreas tutulumu yağ ve protein emilim bozukluğu ve büyüme geriliği ile belirgindir Yağ emilim bozukluğu sonucu yağda eriyen vitamin eksikliklerine bağlı belirtiler oluşur Emilim bozukluğu tedavisi enzimin yerine konulan ve vitamin eksikliklerinin düzeltilmesi şeklinde yapılmalıdır Gen tedavisi hastalığın tümüyle tedavisi için bir umut ışığıdır Alfa 1 antitripsin eksikliği ve kronik pankreatit birlikteliği ile ilgili birçok olgu sunumu yayınlanmış olmakla birlikte pankreatitli hastaların sağlıklı kontrollerle karşılaştırıldığı çalışmalarda alfa 1 antitripsin eksikliğinin kronik pankreatit etiolojisinde rolü olmadığı sonucuna varılmıştır Ancak alfa 1 antitripsinin pankreasın kendi kendini sindirmesini önleyen etkisi göz önüne alındığında etiolojik bir etmen olmasa da eksikliğinin pankreas hastalığını artırıcı bir rolü olduğu düşünülebilir Kistik fibroz ve alfa 1 antitripsin eksikliği olan hastalarda pankreas tutulumunun erken saptanması ve tedavisi bu hastalıklardan ölüm oranının azaltılmasına önemli katkıda bulunur Türk Ped Arş 2009; 44: 7 11 Anahtar kelimeler: Alfa 1 antitripsin eksikliği kistik fibroz pankreas

Anahtar Kelimeler:

Alfa-1 antitripsin eksikliği, kistik fibroz, pankreas

Pancretic disease in cystic fibrosis and alpha 1 antitrypsin deficiency Invited Editor

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 alpha1 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 alpha1 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 Key words: Alfa 1 antitripsin deficinecy cystic fibrosis pancreas

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