16 - Current and future treatment of cystic fibrosis

Summary

Introduction

Respiratory failure remains the most common cause of death in people with cystic fibrosis (CF). The median survival has increased, however, from 14 years in 1969, to 28 years in 1990. This dramatic improvement in health has arisen primarily through effective treatment of the characteristic respiratory infections, but also through greatly improved management of nutrition. Even in the absence of any innovative treatment for the lungs it is predicted that the median survival for babies born in the early 1990s will be 40 years. The advent of therapies aimed at the basic defect in CF will have the greatest benefit for those with the least pre-existing lung damage but such therapies remain in investigative stages. Aggressive management of respiratory infections will remain the mainstay of treatment for minimising CF lung disease for the foreseeable future. The pulmonary damage in CF seems to arise from a two-stage process. First, there is a predisposition to respiratory tract infection with certain bacteria coupled with the inability to eradicate this infection, and secondly an escalating inflammatory response. It is thought that this intense inflammation causes ultimately more of the progressive lung damage than the inciting organisms.

Cystic fibrosis was identified as an autosomal recessive condition in 1952. The gene was traced to the long arm of chromosome 7 in 1985, and 4 years later the full sequence of its 250 Kbp structure was determined.