Jeffrey Smith
Age: 34 years old male
Examiner
Marking Scheme
Data Gathering and Diagnosis
- Ask about abdominal or loin pain
- Ask about any lumps or masses in the abdomen
- Ask about visible blood in the urine (haematuria)
- Ask about other urinary symptoms, as urinary tract infections (UTIs) can occur with polycystic kidney disease (PCKD)
- Ask about ankle or leg swelling
- Ask about complications such as berry aneurysms (which may present as headaches, neck stiffness, or visual disturbances – features of subarachnoid haemorrhage)
- Ask about chest pain (to assess for possible aortic dissection, an extra-renal complication of PCKD)
- Ask about family history of kidney disease or sudden unexplained death
- Ask about lifestyle factors: smoking, alcohol use, etc.
- Ask about the patient’s family, especially whether they have children — this is important for discussing potential genetic implications.
- Explain diagnosis of polycystic kidney disease.
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
- 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.