Jeffrey Smith
Age: 34 years old male
Full Case
Patient’s Data
Patient’s name: Jeffrey Smith
Age: 34 years old Male
Past medical history
- Hypertension – Newly diagnosed
Drug history/Repeat template
- Ramipril 5mg OD
Recent consultation/notes
Seen by Dr Yetunde Bakare (Clinical practitioner access role) 4 weeks ago
Presenting Complaint: The patient attended following a routine occupational health check at work, where elevated blood pressure was noted. He was advised to consult his GP for further assessment.
Examination findings: BP 185/110, Pulse 75bpm.
- Urinalysis done-negative—no blood, no leucocytes, no protein, no nitrates.
- Fundoscopy- normal
Impression: Severe hypertension
Plan:
- Urgent blood tests requested with plan to review results promptly
- Urine ACR
- Review blood pressure in 5 days
- Safety netting advice given
Seen by Dr Amanda Armitage (Clinical practitioner role) 3 weeks ago.
Results of Bloods filed
| Test | Result | Reference Range |
|---|---|---|
| Na⁺ (Sodium) | 139 mmol/L | 135 – 145 mmol/L |
| K⁺ (Potassium) | 3.7 mmol/L | 3.5 – 5.3 mmol/L |
| Ca²⁺ (Adjusted) | 2.3 mmol/L | 2.2 – 2.6 mmol/L |
| Phosphate | 0.78 mmol/L | 0.74 – 1.4 mmol/L |
| Urea | 2.7 mmol/L | 2.5 – 7.8 mmol/L |
| Creatinine | 104 μmol/L | 59 – 104 μmol/L |
| eGFR | 68 | >90 (normal) |
Additional Blood Tests:
Thyroid function test, HbA1c, cholesterol, CRP, LFTs – all reported as normal. Urine ACR – normal.
Examination Findings:
Blood pressure: 185/112 mmHg
Q-risk: 3%
Plan:
- Start on Ramipril 5mg OD.
- Discussed blood test results with the patient.
- Advised renal ultrasound scan (USS) to assess for any underlying structural abnormalities of the kidneys.
Renal Ultrasound Scan:
Patient had renal Ultrasound scan yesterday.
Findings:
Kidneys:
Both kidneys are enlarged with numerous bilateral cortical and medullary cysts of varying sizes.
The largest cyst in the right kidney measures 4.5 cm, and in the left kidney 3.8 cm.
There is no evidence of solid masses or suspicious lesions.
No hydronephrosis is noted.
Renal Parenchyma:
Cortical thinning is noted bilaterally.
There is no evidence of calcification or nephrolithiasis.
Other:
The bladder appears normal. No abnormal findings in the surrounding abdominal organs.
Impression:
Ultrasound findings are consistent with polycystic kidney disease (PKD).
Recommendations:
Correlation with clinical and laboratory findings is recommended.
Reported by: Dr. A. Johnson, Consultant Radiologist
Follow-up: Patient booked an appointment to discuss his scan results.
Patient's Story (Role player’s brief)
Patient’s Story
You are Jeffrey Smith, a 34-year-old man attending today to discuss the results of your recent kidney ultrasound scan, which was arranged after high blood pressure was discovered during a routine check.
You have no symptoms and felt completely well, so you were quite shocked to learn that your blood pressure was high
Provide the following information ONLY if asked:
You occasionally take over-the-counter ibuprofen for headaches. That’s the only medication you use.
Social History: You are a non-smoker and do not drink alcohol. You live with your wife and two children—your 9-year-old son and 7-year-old daughter. You work as an accountant. The job is not stressful, and you enjoy it.
Family History: You were adopted. However, you’re aware that your biological father died from a kidney-related condition, though you don’t recall the exact diagnosis.
Ideas: You don’t understand why your blood pressure is high, especially as you’ve felt fine.
Concerns: You’d like to get to the bottom of it and ensure it’s managed properly.
Expectations: You expect the doctor to explain the results of your scan and what it means for your health.
If the doctor shares a diagnosis involving cysts or kidney disease, ask:
- “What will eventually happen with this condition?”
- “Is there a medication that can treat or remove the cyst?”
- “Can my children be screened for this since you mentioned it runs in families (Only ask this if you are told it runs in family)?”
If asked anything outside of the information above, politely say “No.”
Marking Scheme
Management
- Offer a routine nephrology referral for ongoing specialist input
- Offer regular blood pressure monitoring
- Continue ACE inhibitor. If the patient was on antihypertensives that may harm kidney function (e.g. thiazides), consider switching to an ACEi
- Stop nephrotoxic medications, especially NSAIDs like ibuprofen or aspirin and highlight the risks of over-the-counter painkillers like ibuprofen or aspirin
- Explain you will also refer to genetics to assess whether this is the autosomal dominant type and to explore genetic counselling
- Discuss the issue of screening in children: Routine screening in asymptomatic children is not usually recommended due to the potential psychological impact and the fact that many will remain asymptomatic for years. However, some families may wish to pursue early testing for proactive monitoring and if so, refer to genetics
- Advise avoidance of contact sports (e.g. rugby, football) due to the risk of cyst rupture and internal bleeding
- Safety net: Warn about signs of subarachnoid haemorrhage (sudden severe headache, neck stiffness, visual changes). Warn about symptoms of cyst rupture (sudden abdominal pain, dizziness, or signs of internal bleeding)
Example of explanation to patient
Jeffrey, thank you for coming in to go over your scan results. The ultrasound has shown that you have a condition called polycystic kidney disease, or PCKD for short.
This is an inherited condition where small, fluid-filled sacs called cysts form in the kidneys. Over time, these cysts can increase in number and size. In some people, the condition progresses and can lead to gradual kidney damage. However, in many others, the kidneys continue to work relatively well for many years with good monitoring and blood pressure control.
Importantly, this condition is very likely the reason your blood pressure has been high, even though you’ve been feeling well.
Now, even though it usually runs in families, it can also happen in people who don’t have a known family history, which might be the case for you, especially as you mentioned being adopted. If we confirm that this is the type known as autosomal dominant polycystic kidney disease, it means each of your children would have a 50% chance of inheriting the condition.
[Patient asks: “What will eventually happen with this condition?”]
That’s a very understandable question. The outcome can vary quite a lot from person to person. Some people live with PCKD their entire lives and maintain good kidney function with regular monitoring and blood pressure control. Others may see their kidney function decline gradually over time and may eventually require specialist care or, in some cases, dialysis or transplant, but that usually happens later in life, and not everyone with this condition gets to that stage.
We’ll be referring you to a kidney specialist, a nephrologist, who will help guide your care and keep an eye on how things are progressing.
[Patient asks: “Is there a medication that can treat or remove the cyst?”]
There isn’t currently a medication that can remove the cysts once they’ve formed. However, controlling your blood pressure, especially with medications like ACE inhibitors, can slow down the progression of the disease. There’s also a newer medication called tolvaptan which may be considered in certain patients to slow cyst growth, but it’s not suitable for everyone and has to be carefully assessed by a specialist.
[Patient asks: “Can my children be screened for this?”]
That’s another very good question. Generally, we don’t routinely screen healthy children for this condition unless there’s a medical reason to do so. That’s because many children with the condition don’t have symptoms for years, and finding out early can sometimes lead to unnecessary worry or anxiety for the child and the family.
That said, some families prefer to know early, so they can monitor things proactively. We can refer you to a genetic service where you can discuss this in more detail and explore options for testing or screening if you feel strongly about it.
Management
Management
- Offer a routine nephrology referral for ongoing specialist input
- Offer regular blood pressure monitoring
- Continue ACE inhibitor. If the patient was on antihypertensives that may harm kidney function (e.g. thiazides), consider switching to an ACEi
- Stop nephrotoxic medications, especially NSAIDs like ibuprofen or aspirin and highlight the risks of over-the-counter painkillers like ibuprofen or aspirin
- Explain you will also refer to genetics to assess whether this is the autosomal dominant type and to explore genetic counselling
- Discuss the issue of screening in children: Routine screening in asymptomatic children is not usually recommended due to the potential psychological impact and the fact that many will remain asymptomatic for years. However, some families may wish to pursue early testing for proactive monitoring and if so, refer to genetics
- Advise avoidance of contact sports (e.g. rugby, football) due to the risk of cyst rupture and internal bleeding
- Safety net: Warn about signs of subarachnoid haemorrhage (sudden severe headache, neck stiffness, visual changes). Warn about symptoms of cyst rupture (sudden abdominal pain, dizziness, or signs of internal bleeding)
Learning point from this station:
Polycystic kidney disease (PCKD) is a genetic disorder that leads to the development of multiple fluid-filled cysts in the kidneys and, over time, can result in chronic kidney disease and hypertension. PCKD can occur as autosomal dominant or autosomal recessive. The autosomal dominant form (ADPKD) is the most common, accounting for approximately 90% of cases, and typically presents in adulthood.
ADPKD follows a classic autosomal dominant inheritance pattern, meaning each child of an affected parent has a 50% chance of inheriting the condition. While a family history is often present, it’s important to note that 10–25% of cases arise due to new (de novo) mutations or from previously undiagnosed cases in the family. This highlights the need for clinical suspicion even in the absence of known familial disease.
Routine screening of asymptomatic children is usually not recommended, due to the psychological impact of an early diagnosis and the potential loss of a child’s future autonomy in choosing whether to be tested. However, this remains a controversial area, and some advocate for earlier detection, especially now that ultrasound techniques are more reliable, and because hypertension can develop before overt kidney symptoms appear. For this reason, blood pressure monitoring is encouraged in at-risk children, even if formal imaging is deferred.
If parents are keen to explore testing for their children or are planning future pregnancies, they should be referred to clinical genetics for counselling and to discuss their options. Screening decisions should be revisited before the individual starts their own family, to allow informed reproductive choices.
In terms of treatment, Tolvaptan is a vasopressin receptor antagonist that has been shown to slow the progression of cyst growth and decline in kidney function in selected patients with ADPKD. However, its use is determined on a case-by-case basis by nephrologists, and not all patients are suitable candidates.
In women with ADPKD, oestrogen is thought to promote the growth of liver cysts, which are a common complication outside the kidneys. Because of this, hormone treatments that contain oestrogen (such as the combined oral contraceptive pill or HRT) should be avoided if possible. If oestrogen is needed, it should be used at the lowest effective dose, and transdermal (patch) forms are generally preferred, as they may carry a lower risk of stimulating cyst growth.