A Friends child

Question

I suspect that a friends 1 yr old might have CF, he is ill every week, has had a cough since he was tiny, sicks up mucus and she tells me his stools are/were greasy.
The only thing that buts doubt in my mindf is he is a very healthy weigh.
I have hinted and even mentioned CF once but each time she goes to the doctor they just give anti-biotics and this week gave him Gaviscon for reflux.
Should I say anything? Why hasnt it flagged up at the surgery?

Answer

Thank you for your question regarding your friend’s child.
There are many factors to consider when answering this question and it is impossible to decide an underlying diagnosis in this child without taking an extensive history and doing a thorough examination.
Firstly if this child lives in an area that has implemented a newborn screening programme for CF it would make it less likely that CF would be the underlying issue. Newborn screening programmes are being rolled out in more and more countries in recent years and usually involve a blood spot test that checks IRT levels +/- DNA analysis. The majority of children will be picked up by screening but a small percentage may be missed if they have mutations associated with milder disease. These individuals would usually be pancreatic sufficient and therefore would be less likely to be failing to thrive. Sweat chloride level remains the gold standard for diagnosis in those individuals with borderline IRT or one mutation. However again those with milder disease may have intermediate results. Prevalence of CF varies with ethnicity, being much more frequent in Caucasians than in other ethnic groups and must be taken into account when considering the diagnosis.
Secondly it is important to remember that there are many reasons that a young child will have ongoing respiratory symptoms. In a child of only 1 yr of age relevant factors to consider include
• birth history and antenatal history
• postnatal problems like prematurity/neonatal infection/respiratory distress
• family history of respiratory conditions eg. Asthma
• social history: family size, housing conditions, parental smoking
• recurrent viral respiratory tract infections
Upper respiratory tract infections are the commonest acute illness seen in the community setting. Children are more likely to get viral infections, especially in the under 5yrs of age group, as they have not yet built up immunity to many viruses. Literature reports state that children have somewhere between 3-8 (some reports say up to 10) viral respiratory tract infections per year. A UK report states that 5 million antibiotics are prescribed each year for children in the community nearly always for viral infections. Symptoms associated with a viral respiratory tract infection usually last up to 14 days but can persist for 3-4weeks. Lower respiratory tract infections are most common in the under 2 years of age group.
Children deemed to not be suffering from an inter-current respiratory tract infection have been noted to cough around 11 times per day but it can be as much as 30 times a day.
Thirdly 95% of people with CF from Northern Europe are pancreatic insufficient and would present with signs of malabsorption and failure to thrive. The fact the child is thriving reduces the likelihood of CF being a possibility.
If your friend has ongoing concerns about her child it is important that she takes the child back for review with the general practitioner. If the child has persistent respiratory symptoms it is reasonable to request review with a paediatrician for further investigation/reassurance. I refer you to the British Thoracic Society guidelines for the management of cough in children. I have also included some other references that you may find useful.

Dr Laura Jenkins
www.cdc.gov/getsmart/campaign-material/paediatric
Recommendations for the assessment and management of cough in children MD Shields, A Bush, MC Everard, S McKenzie, R Primhak on behalf of the British Thoracic Society
NICE-short clinical guidelines for antibiotic prescribing for respiratory tract infections
Guidelines for diagnosis of CF in Newborns through older Adults: CF Foundation Consensus Report Philip M. Farrell et al. J. Pediatr2008 August 153(2):S4-S14
European best practice guidelines for CF neonatal screening J Cyst Fibros 2009 May 8(3) 153-73. Castellani C. et al

02.04.2012

The answer is edited by: Laura Jenkins