Abstract:
Cystic fibrosis (CF) is one of the most common autosomal recessive disorders worldwide. The incidence of CF depends on the prevalence
of CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations in the population, which is determined by genetic diversity
and ethnicity. Over 2 000 CFTR mutation variants, divided into six distinct functional classes, are now identified, but not all cause CF
disease. Advancements in the molecular diagnosis of CF and recognition of a wider spectrum of CF severity have led to recent revision
of CF diagnostic nomenclature and criteria. Identifying which CFTR mutations people with CF carry is important, as novel treatments
that target the specific CFTR dysfunction at a molecular level are now available, and many new drugs are in the pipeline. These and other
advancements in CF are comprehensively covered in the revised 5th edition of the South African Cystic Fibrosis Consensus Guidelines,
published in 2017. In addition, the South African Cystic Fibrosis Registry Initiative (SACFRI) was launched in April 2018. SACFRI is a
multicentre public-private collaboration of CF healthcare providers across South Africa (SA), which will prospectively collect data relating
to CF diagnosis and outcomes in SA. Local SA registry data are critical to understanding the epidemiology of CF in SA, and SACFRI will
be an important tool to identify and prioritise areas of CF care that require intervention.
