Cases/Genetics

Polycystic Kidney Disease Asking About His Children — Free SCA Practice Case

Young man newly diagnosed with polycystic kidney disease asking about his children

Station Timer

12:00

Golden Minute

Initial Introduction

•Introduce yourself

•Ask an open question — "How can I help you today?"

•Listen — don't interrupt

•Catch early cues

Data Gathering

History, ICE & Diagnosis

Clinical Management

Diagnosis, Plan & Decisions

Safety Net

Follow-up & Close

12:00

Golden Minute

Materials for Candidate

Please review before starting the consultation

Patient Profile

Full Name

Ryan Docherty

Age

32 years

Consultation Type

Video

Age

Situation

Video Consultation.

Reason for Encounter

"I've just been told I've got polycystic kidney disease, like my dad had. I've got two little kids and I'm desperate to know — have I passed it on to them, and can they be tested?"

Medical Records

●PMH: Hypertension (diagnosed 6 months ago). Autosomal dominant polycystic kidney disease — recently confirmed (renal ultrasound showing multiple bilateral cysts; nephrology follow-up arranged).
●Medications: Ramipril 5 mg OD.
●Allergies: NKDA.
●Recent results: eGFR 78 mL/min/1.73m². BP at diagnosis 148/94; improving on ramipril. Nephrology clinic letter confirms ADPKD and requests GP support with blood-pressure management and family discussion.

Patient Script

For the friend playing the patient role

Character Overview: You are Ryan, a 32-year-old plumber. You are practical but shaken — your father had polycystic kidneys, was on dialysis, and died relatively young, and now you have the same diagnosis. Your overriding worry is not really yourself but your two young children. You are anxious and want clear answers. You respond well to being taken seriously and to plain explanations.

Opening Sentence: "Hi Doctor. So the kidney clinic confirmed I've got polycystic kidney disease — the same thing my dad had. He ended up on dialysis and died at 58. I've got a three-year-old and a baby, and honestly all I can think about is whether I've passed this on to them. Can they be tested now?"

History if Asked (Data Gathering Phase)

●How he was diagnosed: "My blood pressure was up at a work medical about six months ago. They looked into it, did a scan, and found the cysts on both kidneys. Then the kidney clinic confirmed it."
●His father: "Dad had the same — polycystic kidneys. He was on dialysis for years and died at 58. That's what terrifies me."
●His symptoms: "I feel alright in myself, honestly. The odd ache in my side. No blood in my wee or anything. It was just the blood pressure that flagged it up."
●His children: "I've got a boy who's three and a baby girl, six months. They're both well, no problems."
●Family planning: "We might want one more, but this has thrown all that into question. I don't know what to think."

ICE — Ideas, Concerns, Expectations

The patient does not volunteer this information unprompted. These responses surface only when the candidate directly explores his perspective.

●Ideas: Ryan knows it "runs in families" but does not understand the odds or how it passes on. He assumes his children can and should be tested straight away, like a blood test. "I know it's hereditary, but I don't understand the chances. I just assumed the kids could get a blood test and we'd know."
●Concerns: His dominant concern is that his children will inherit it and end up like his father. Underneath is guilt — that he may have passed something terrible to them — and fear about his own future (dialysis, dying young like his dad). He is also worried, when prompted, about life insurance and his mortgage. "What keeps me up is the thought they'll go through what my dad went through, and that it's my fault. And selfishly — will I end up on dialysis too? And is this going to mess up my life insurance?"
●Expectations: He wants his children tested now and wants to be told they will be fine. "I want them tested and, honestly, I want you to tell me they're going to be okay."

If Asked — Medical History and Medications

The patient confirms these details only when directly asked.

●Blood pressure: "Started on ramipril six months ago. They said controlling it is important. It's coming down."
●Kidney function: "They said my kidney function is still pretty good at the moment, which was a relief."
●Symptoms of complications: "No blood in my urine, no kidney infections, no bad pain. The odd dull ache in my side."
●Family history detail: "Dad had it. I don't know about aneurysms or brain haemorrhages in the family — why do you ask?"
●Allergies: "None."

Social History and Lifestyle Impact

Ryan is a self-employed plumber. He lives with his wife and two young children.

●Work and family: "Self-employed plumber, wife's at home with the little ones. Money's tight, so the insurance thing worries me."
●Lifestyle: "I don't smoke. A few beers at the weekend. I could drink more water, I know."
●Mood: "I've been low since the diagnosis, if I'm honest. It brought back everything with my dad."
●Support: "My wife's supportive but she's frightened too."

If Asked — Associated Symptoms and Red-Flag Screen

The patient answers these only when directly asked.

●If asked about headaches or neurological symptoms (aneurysm screen): "No bad headaches, no. Should I be worried about that?"
●If asked about family history of brain aneurysm or haemorrhage: "I'm not sure — I'd have to ask my mum. Dad never mentioned anything like that."
●If asked about haematuria, loin pain, UTIs, stones: "No blood in my wee, no infections, just the occasional dull ache in my side."
●If asked about his children's health: "Both well. The baby's meeting all her milestones, the boy's full of energy."
●If asked about mood/impact: "Low and anxious since the diagnosis. Sleep's been poor."

Responses to Management (The Negotiation Phase)

●If the Doctor explains each child has a 50% chance of inheriting it: "Fifty-fifty? For each of them? So one might have it and one might not?" (The tested point is explaining autosomal dominant inheritance clearly — a one-in-two chance for each child, independently.)
●If the Doctor advises against testing the young children now: "Why can't they just be tested now? I'd rather know." (The tested point is explaining why predictive testing of asymptomatic young children for an adult-onset condition is generally deferred, while blood-pressure monitoring is appropriate.)
●If the Doctor raises genetic counselling and reproductive options: "There are options for future pregnancies? What do you mean?"
●If the Doctor addresses the insurance worry: "So will having this diagnosis, or the kids being tested, wreck our chances of life insurance or a mortgage?"
●If the Doctor discusses his own prognosis: "Am I definitely going to end up on dialysis like my dad?"

Mark Scheme

Domain 1: Data Gathering and Diagnosis

0 / 16 indicators checked+0−0

Positive (0/8)

Negative (0/8)

Domain 2: Clinical Management and Medical Complexity

0 / 20 indicators checked+0−0

Positive (0/10)

Negative (0/10)

Domain 3: Relating to Others

0 / 12 indicators checked+0−0

Positive (0/6)

Negative (0/6)

Clinical Learning Points

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

●ADPKD is the commonest inherited kidney disease, caused by mutations in PKD1 (more common, more severe) or PKD2. It causes progressive bilateral renal cysts, hypertension, and declining renal function, often leading to end-stage kidney disease in later adult life.
●Common features: early hypertension, loin/flank pain, haematuria, renal stones, and urinary infections. Extra-renal features include hepatic cysts, intracranial (berry) aneurysms, mitral valve prolapse, diverticular disease, and hernias.

Autosomal Dominant Inheritance

●Each child of an affected parent has a 50% (one-in-two) chance of inheriting the condition, independently for each child. Sex is not relevant to the risk.
●This differs fundamentally from autosomal recessive conditions (such as hereditary haemochromatosis), where the children of a single affected parent are typically carriers rather than affected.

Testing Children — Defer Predictive Testing

●ADPKD is adult-onset; predictive genetic testing of asymptomatic children is generally deferred until they are old enough to make an informed choice, in line with good practice for adult-onset conditions.
●However, blood pressure should be monitored in children of an affected parent, and any symptoms assessed. Predictive testing (ultrasound or genetic) is offered to at-risk adults through appropriate counselling.

Screening At-Risk Adult Relatives

●At-risk adult relatives can be assessed by renal ultrasound (with age-dependent diagnostic criteria — ultrasound is less reliable at younger ages, particularly for PKD2) or by genetic testing, ideally after genetic counselling so they understand the implications.

Reproductive Options

●For future pregnancies, options include prenatal diagnosis and pre-implantation genetic diagnosis (PGD). These are discussed through clinical genetics, allowing informed reproductive choices.

Managing the Patient's Own Condition

●Blood-pressure control is central and slows progression; ACE inhibitors/ARBs are first-line. Regular monitoring of renal function, good hydration, and avoidance of nephrotoxins are important.
●Tolvaptan (a vasopressin V2-receptor antagonist) can slow progression in adults with rapidly progressing disease and is specialist-initiated (NICE TA358).
●Consider intracranial aneurysm screening where there is a family history of aneurysm or subarachnoid haemorrhage.

Genetics and Insurance

●Under the UK framework governing genetics and insurance, insurers do not require or use predictive genetic test results for most policies, with Huntington's disease above a financial threshold being the specific exception.
●An existing clinical diagnosis of disease is treated differently from a predictive genetic test result; signpost patients to accurate advice so fear of insurance consequences does not deter appropriate testing of relatives.

Psychological Impact and Support

●An inherited diagnosis — especially with a family history of a poor outcome — carries a heavy psychological burden, including guilt and fear for children. Acknowledge this, screen for low mood, and offer support and follow-up.

Common Candidate Mistakes in This Case

●Getting the inheritance wrong: failing to explain the clear 50% autosomal dominant risk per child.
●Testing the young children: arranging predictive testing of asymptomatic young children rather than deferring it and advising blood-pressure monitoring.
●Not involving genetics: trying to resolve inheritance, testing, and reproductive questions without a genetics referral.
●Mishandling insurance: giving inaccurate reassurance or alarm about genetic testing and insurance.
●Missing the person: addressing the kidney disease but not the guilt, the fear of following his father's path, or his low mood.

Free MRCGP SCA practice case for GP registrars covering Polycystic Kidney Disease Asking About His Children — Genetics. Includes candidate brief, patient script, marking scheme mapped to the RCGP SCA marking domains, and learning points. Built directly from the RCGP curriculum topic stations listed under "How this might be tested in the MRCGP SCA," part of a free library of 79 SCA practice cases for simulated consultation assessment preparation.

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