The pancreas in mucoviscidosis

Abstract

Introduction: Cystic fibrosis is an inherited-recessive disease with progressive chronic evolution, caused by a defect in the CFTR gene. The pancreas is one of the most commonly affected organs by disease, leading to pancreatic insufficiency and significant decrease in life expectancy. Purpose: To study the genetic aspects in affecting the pancreas with cystic fibrosis by presenting the following clinical research. Material and methods: A clinical research was conducted and analyzes the statistics of 49 pacients known with cystic fibrosis at the IMSP Institutul Mamei și Copilului. Aspects analyzed: patient age (PA), disease onset (DO), fecal elastase value (FEV), mutant gene class (MGC), body mass index (BMI). Conclusions: (1) Cystic fibrosis is a monogenic disease, the diagnosis of which is established, mainly during the first year of life. (2)The F508 delta mutation is the most common, respectively, class II remains the most affected. (3)Class I and II lead to a classic CF phenotype with pancreatic insufficiency.