Cystic fibrosis is a genetic disease with Autosomal recessive pattern.
It is more commonly seen in children born out of consanguineously married couples
It was considered a diagnosis of children from western countries,till Dr Sushil Kumar Kabra,from AIIMS,New Delhi made the diagnosis,approachable and affordable,by developing an indegenous instrument to measure the sweat chloride level ,essential for the diagnosis of cystic fibrosis in children.
It primarily affects respiratory systems ,gastrointestinal system and genitourinary system.
The primary pathology is mutation of CFTR gene ,responsible for transport of electrolytes which carry water with it across the cell membrane.
The mutation,causes the secretions in respiratory tract ,gastrointestinal tract and genitourinary tract,very thick.
The sufferer,gets difficulties in clearing secretions from the respiratory airways,bacteria get stuck in the thick secretions and the child develops repeated episodes of cough,visits many clinicians with very little benefits,till the final diagnosis of cystic fibrosis is made at the centre with expertise in CF (Cystic fibrosis). Chest X-Ray at initial stage shows only bilateral hyperinflation which is easily confused with asthma.
As per the gastrointestinal system,initially there is frequent watery diarrhoea,and later on constipation and intestinal obstruction popularly known as meconium ileus equivalent occurs in older children. Some children may be born with intestinal obstruction ,called meconium ileus.
Adults may suffer from infertility due to absence of vas deference in male and tube blockage in female .
The diagnosis is based on sweat chloride analysis,and mutaion analysis.
The most common mutation is seen on delta 508 F location of gene,all over the world.
The only option for the treatment till recent years was supportive therapy, in the form of enzyme LIPASE with meals,hypertonic saline inhalation to make the respiratory secretions thin,and chest physiotherapy to induce cough and taking out the pulled secretions to make airways clean. Inhalational steroids to subside the airways inflammation and keep it in control and antibiotics to treat and prevent respiratory tract infections,known in this case as pulmonary exacerbation due to infections..
In the past few years,there have been many multicentric research which gave the medicines that regulate CFTR gene.
In a study on 506 children aged 12 years or more,ELEXACAFTOR 200mg,IVACAFTOR 150mg and TEZACAFTOR 100 mg were given 12 hourly for 144 weeks.
At the end of 144 weeks, there was significant improvement in lung functions in the form of mean rise of 14.1% in FEV1 and marked decrease in pulmonary exacerbation,0.2 per year only.
The BMI went up with mean increase of 1.61 kg/metre square.
Cystic fibrosis questionaire was also also improved.
There was marked improvement in symptoms.
Adverse effects were moderate and the main adverse effect was infective Pulmonary exacerbation,followed by cough ,headache,oropharyngeal pain and nasopharyngitis
This therapy is popularly known as triple therapy or ETI therapy.
This is very costly therapy but safe and effective with its limitation of availability.
Dr Deo Kumar Jha,M.D., Pediatrician and Pulmonologist,Ghaziabad,Delhi and NCR,www.childandchestdoctor.com,You Tube channel-Dr Deo Kumar Jha
REFERENCE: Daines CL, et al. Eur Respir J. 2023;doi:10.1183/13993003.02029-2022: