Sample · RACP
Cystic fibrosis in an 11-year-old: declining lung function, new CFTR modulator and a family under strain
Long case · Respiratory and sleep medicine · 16 marks. Decide what you would do, then compare with the marking guide and model performance. In the app you run it against the clock, with a colleague or an AI role-player, and it comes back marked.
You have spent 60 minutes with Mia Kovac, an 11-year-old girl with cystic fibrosis (CF), and her mother, Ana, on the respiratory ward where Mia has been admitted for a "tune-up" course of intravenous antibiotics. You took a full history and examined Mia. You now have 10 minutes to prepare before presenting to two examiners for 25 minutes. Present the case, including your examination findings, then give a prioritised problem list and discuss your management, with particular attention to the impact of her illness on Mia and her family.
- Present a concise, accurate history and examination, including growth plotted on the centile chart.
- Give a prioritised problem list that covers medical, developmental and psychosocial issues.
- Discuss your management plan for the next 12 months, including what you would say to Mia and her mother.
Show the marking guide and model performance
- History accurate and complete: diagnosis by newborn screening, genotype, microbiology timeline (first Pseudomonas, regrowth), FEV1 trend, previous admissions and DIOS (2)
- Elicits discrepancies from Mia herself (skipping enzymes at school, airway clearance once a day) rather than accepting the parent account alone (1)
- Examination accurately reported, including clubbing, focal crackles, SpO2 and pubertal stage, with significant negatives (no nasal polyps, no hepatomegaly) (2)
- Growth plotted and interpreted: weight crossed from 40th to 15th centile, height preserved, BMI below the CF target of 50th centile (1)
- Prioritised problem list that integrates lung decline, nutrition, adherence and psychosocial issues rather than listing CF features (2)
- Correct approach to chronic Pseudomonas: IV dual therapy with tobramycin level, renal and hearing monitoring, then maintenance inhaled therapy (1)
- Recognises ABPA from rising total IgE with specific IgE, and states confirmation and treatment (CT chest, prednisolone, consider itraconazole with interaction check) (1)
- Identifies overdue CFRD screening and plans OGTT once well (or continuous glucose monitoring while unwell) (1)
- Safe plan for elexacaftor/tezacaftor/ivacaftor: genotype eligibility, LFT monitoring, interactions, eye check, mood and sleep effects (1)
- Specific impact on child and family: mother carer strain, father away, sibling distress, school absence and camp, disclosure to peers (2)
- Practical psychosocial plan: social work, psychologist, mental health screening, school plan, sibling support, Centrelink entitlements, time alone with Mia (1)
- Communicates the plan in language appropriate for an 11-year-old and her mother (1)
"Mia is an 11-year-old girl with cystic fibrosis, homozygous F508del, pancreatic insufficient, admitted for a 14-day IV antibiotic course after six weeks of increased cough and 2 kg weight loss. Her FEV1 has fallen from 92 to 68% predicted over 18 months. She has had a second isolation of mucoid Pseudomonas aeruginosa despite eradication with inhaled tobramycin four months ago.
On examination she was mildly dyspnoeic, saturating 94% in air, with grade 2 clubbing and coarse crackles in both upper zones, worse on the right. There were no nasal polyps and no hepatomegaly. Her weight is on the 15th centile, having crossed down from the 40th over two years; height is on the 40th, consistent with mid-parental height; BMI is about the 20th centile, below the CF target. She is Tanner stage 2.
Mia told me alone that she skips her enzymes at school because people stare, and that physiotherapy is once a day at best.
My problems, in order: first, progressive lung disease, which I think is driven by chronic Pseudomonas but I would actively look for allergic bronchopulmonary aspergillosis, given her total IgE has risen to 1450 with positive Aspergillus IgE, and for CF-related diabetes, given her OGTT is two years overdue and a random glucose of 9.2. Second, nutritional decline from enzyme nonadherence and increased energy need. Third, adherence as she enters adolescence. Fourth, a family under real strain: her father is away two weeks in three, her mother has cut work and is doing everything alone, and her brother Luka told me he feels nobody cares about him.
Management: IV tobramycin with levels and ceftazidime, then maintenance inhaled antipseudomonal therapy; CT chest and, if ABPA is confirmed, prednisolone with consideration of itraconazole; continuous glucose monitoring now and OGTT when well. She is eligible for elexacaftor/tezacaftor/ivacaftor, which I would start with baseline LFTs, an eye check and an interaction review. Dietitian to rework enzymes into a discreet school plan. I would involve the CF psychologist and social worker, screen for depression and anxiety, help her get to camp with a school plan, offer Luka sibling support, and check the family's entitlements."
Where candidates lose marks here
- Taking the history from the mother only: the key adherence information came from Mia when seen alone.
- Describing growth in words without plotting it, so the weight centile drop is missed.
- Attributing the FEV1 decline to an exacerbation without a differential (ABPA, CFRD, adherence, new organism).
- Saying the family "is coping" or "stressed" without naming the sibling, the absent parent and a concrete plan for each.
- Starting a CFTR modulator without mentioning LFT monitoring and drug interactions (for example with azoles used for ABPA).
Original content written for Fellowship Ready, for exam preparation only, not clinical advice. Not affiliated with the RACP.