SCA practice case · Video consultation

“My dad’s on dialysis with polycystic kidneys — do I have it, and what does it mean for kids?”

The candidate brief

This is what you would read in the 3-minute window before the patient connects. Read it once, note two or three hypotheses and one thing you must not miss, then stop.

Patient
Lucy Hartford · 24 years · female
Setting
Video consultation — family history of ADPKD, seeking advice.
Past history
  • Nil significant
  • FH: father ADPKD on dialysis; paternal grandmother ADPKD
Medication
  • None recorded
Allergies
NKDA
Recent notes
⚠ No BP recorded for several years. No renal imaging or genetic testing on file.
Reason for contact
Video consultation: “Do I have Dad’s kidney disease — and what about kids?”

Practise this case

The full case is in the Hot Seat with the Gold plan. You get a 12-minute timer, a role-player script with facts released only when asked, examiner checkpoints by the three RCGP domains, a model consultation and the guidance behind it.

What this case tests

Show the learning points (spoiler: read after you have practised)
This is a genetic/chronic-disease counselling consultation about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD). Explain the inheritance plainly: ADPKD (usually PKD1/PKD2) is dominant, so each child of an affected parent has a 50% chance of inheriting it — with her father affected, her prior risk is 50%, and a diagnosis is not certain. Discuss presymptomatic screening SENSITIVELY rather than assuming she wants it: renal ULTRASOUND is first-line, with age-dependent diagnostic criteria (and a normal scan in someone young does not fully exclude disease), and genetic testing is available; crucially counsel the implications — psychological impact, the RIGHT NOT TO KNOW, and, kept separate, insurance: under the Code on Genetic Testing and Insurance (2018) predictive genetic test results need not be disclosed below the financial limits, whereas a scan showing cysts is a medical finding insurers may ask about — supporting an autonomous decision. Outline what a diagnosis would mean: proactive BLOOD PRESSURE control (ACE inhibitor/ARB, renoprotective), eGFR/proteinuria monitoring, hydration and lifestyle, tolvaptan for selected rapidly-progressing cases (NICE TA358: CKD stage 2 or 3 at the start of treatment, specialist-initiated), and management of complications (cyst haemorrhage/infection, stones, pain) — framed realistically (many live full lives) rather than catastrophically. Know the EXTRA-RENAL features — liver cysts, intracranial ANEURYSMS (with thunderclap-headache red-flag advice and consideration of screening in higher-risk groups), mitral valve prolapse, diverticular disease, hernias. Address reproductive options non-directively — natural conception with 50% risk, prenatal diagnosis, PREIMPLANTATION GENETIC TESTING with IVF, donor gametes, adoption — emphasising pre-conception counselling, and refer to NEPHROLOGY and CLINICAL GENETICS. Throughout, acknowledge the fear, pace the information, support autonomy without steering, and safety-net.

The guidance behind it

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