follow up the disease

Question

My baby has deltaF508 and R1070W and is almost healthy (details are in a previous question).

How do you recommend to treat the baby so that we do not tantalize with many investigations but also keep on eye on the disease. E.g. it was recommended to me to do monthy analyse of sputus, but I see this quite an invasive investigation as long as he has no pulmonary symptoms yet and has no sputus.
I currently do throat and nose exsudat for every cold he has. But is it enough?

Thank you

Answer

Dear Parent
Thank you for your question about your child with deltaF508/R1070W genetics and the frequency of sputum/respiratory secretions analysis.
As it has been discussed in a previous Ecorn question (see archive question 03/01/12) deltaF508/R1070W is usually associated with “mild, pancreatic sufficient CF” or congenital absence of the vas deferens.
Currently you describe your child as having no pulmonary symptoms and being non-productive of sputum. Young children with CF are often non-productive of sputum and even if they are productive often they will not spit out sputum for analysis. This means that secretions have to be obtained either by a cough swab of the throat or in very young children suctioning of secretions can be done.
Many children find this process traumatic and your concern is understandable.
It is recommended in guidelines that individuals with CF should have frequent analysis of sputum (at each clinic visit). Once children are over a year of age this is usually every 2-3 months but will vary according to the severity of their condition.
Also it is well documented that any pulmonary exacerbations should be treated promptly to help maintain long-term respiratory health. Any individual with “mild pancreatic sufficient CF” who has a pulmonary exacerbation that does not respond to a simple change of antibiotics/airway clearance should have further assessment by their CF centre.
It is also vital to remember that environmental factors have an important role to play in maintaining respiratory health. This is demonstrated by the wide variety of severity of disease that can be seen in people with the same genetic mutations.
As we learn more about these rarer mutations and collect data on larger numbers of individuals it will become clearer for health professionals and families how to manage these milder variations of the condition. I hope you have found this information useful and I suggest you discuss this further with your local CF centre.

Dr Laura Jenkins

References:
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice Castellani et al. J Cyst Fibros 2008;7(3):179-96

Functional studies of rare missense mutations in CFTR facilitate interpretation of genotype-phenotype relationships Kristina V Krasnov, Maria Tzetis, Jie Cheng, William B Guggino and Garry R Cutting Hum Mutat. 2008 November; 29(11): 1364-1372

CF Trust Consensus Documents

Atypical cystic fibrosis-diagnostic and management dilemmas
Colin Wallis; J R Society of Med 2003; 96(Suppl.43):2-10

23.01.2012

The answer is edited by: Laura Jenkins