Cystic fibrosis: what’s new in treatment

Cystic fibrosis is a monogenic autosomal recessive illness attributable to mutations in the CFTR gene.Cystic fibrosis transmembrane conductance regulator), additionally produces a protein known as CFTR and modulates chloride efflux and sodium entry into cells, notably in the lungs.

The primary focus of treatment is at all times to remove the implications of the illness, for instance, bronchial hygiene measures and treatment of exacerbations. More lately, the event of new medication that immediately have an effect on the synthesis of the CFTR protein has revolutionized treatment, together with extra folks with different mutations and can be utilized at an earlier age.

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Pancreatic enzyme alternative, dornase alfa and hypertonic saline inhalations for mucus clearance, inhaled antibiotics, and azithromycin contribute to a median survival of over 40 years for sufferers with cystic fibrosis, however this has not modified. evolutionary course of the illness. About two thousand mutations have been described to this point, of which about 400 are probably pathogenic, grouped in keeping with comparable traits from I (excessive severity) to VI (low severity).


CFTR modulators are medication designed to behave regionally to forestall the onset of illness and act on three primary mechanisms: enhancers, correctors, and manufacturing correctors. Enhancers enhance the operate of CFTR channels in the cell membrane, the principle consultant of which is Ivacaftor. Brokers enhance the processing and supply of CFTR on the cell floor, and embrace Lumacaftor, Tezacaftor and Elexacaftor. Production correctors are brokers that promote studying by way of the untimely termination of messenger RNA codes, however there are nonetheless no medication that work exactly on this mechanism.

Currently obtainable medication cowl about 90% of cystic fibrosis mutations and can be utilized by nearly all sufferers. Recent research have proven improved lung operate, fewer exacerbations, longer time to first exacerbation, considerably lowered mucosal publicity, and secretions in bronchiectasis, in addition to improved high quality of life. of signs. In long-term follow-up, the response to the treatment was sustained for a time period and worsened after discontinuation.

see extra: A new treatment possibility for pulmonary arterial hypertension is included in the SUS

Another attention-grabbing issue is the normalization of chlorine in sweat in handled sufferers, displaying the physiological impact of the drug. Measurement of sweat chlorine is at present used as a diagnostic instrument, and ranges above 60 mmol/L are thought of irregular. In addition, medication can be utilized in the early levels of cystic fibrosis, stopping long-term penalties of the illness.

In SUS, Ivacaftor has already been accredited by CONITEC and is awaiting launch to be used. There are about 100 eligible sufferers in Brazil. Triple remedy (Tezacaftor + Elexacaftor + Ivacaftor), which covers most sufferers, continues to be not obtainable in observe. Drugs resembling colistimethate and constructive stress gadgets have lately been launched into the SUS to deal with these sufferers. With long-term follow-up and elevated use of those medication, many sufferers don’t develop cystic fibrosis, which, together with genetic engineering of new therapies, is revolutionizing the pure historical past of the illness.

Practical statements

  • Cystic fibrosis is a illness identified based mostly on a heel spur check, not solely on the premise of the treatment of its penalties, but in addition on the premise of the potential for treatment;
  • These sufferers ought to be referred to reference facilities for genetic sequencing and potential treatment with CFTR modulators;
  • CFTR modulators are used in nearly all cystic fibrosis sufferers and, if began early, forestall illness development.

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