CASE 3 : Tim Winter

A 7 year old male has been a regular visitor to the GP with a persistent cough and frequent
periods of pneumonia. He returns again with another infection, which is worrying his parents
as he is missing school. His parents are also worried as they think he is small compared to
his peers and despite a very healthy appetite never seams to put on weight and is continually
tired. They report he appears to go to the loo regularly and that it is foul smelling. It transpires
that the parents are related to each other.
The GP decides to do a more detailed examination. She confirms that there is a growth
retardation and that the symptoms suggest something wrong with the GI tract. Listening to
the chest crackles in auscultation of the lungs were detected. The GP performs a sweat test
to be analysed for sodium and takes a sample of blood for genetic analysis. As an initial
treatment she prescribes nebulised colistin and oral ciprofloxacin.
Following the results of the tests the family are referred to a specialist consultant at the local
childrens hospital. He discusses the diagnosis with the family and suggests that, in addition
to the medication the GP prescribed, the child has further treatment which includes nebulised
pulmozyme and a bronchodilator in the form of an inhaler. The consultant also arranged for
the child to have a sputum culture test, spirometry, and oxygen saturation measurements
with pulse oximetry. Follow up appointments are made with a dietician and a physiotherapist
for the child and a genetic counsellor for the family.
The parents mention that they have heard on the news about excessive antibiotic use and
are worried about the continued prescription of antibiotics necessary for their child. The
consultant also mentions a clinical trial using quorum sensing inhibitors to control P.
aeruginosa infections as an alternative to antibiotics and discusses with the family if they
would be interested in taking part.
After a further genetic test revealed that the cause was a G551D and a V520F mutation in
the CFTR gene. The consultant suggested adding Ivacaftor to the treatment to see if that
helps reduce the symptoms.
Learning Objectives
1. Diagnose the disease
2. Explain the results of the main diagnostic and how laboratory tests requested fit your
diagnosis
3. Explain the pathophysiology of the disease
4. What is the mechanism/rational behind of the treatments given?
5. Describe the long-term treatment and prognosis of this disease
6. Define Quorum Sensing. What is a QS Inhibitor and how they can be used to control
bacterial infections?
7. What is Ivacaftor and why can it be used in this case.

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