Polycystic Kidney Disease Flashcards
What is Polycystic Kidney Disease?
ADPKD is characterised by the formation and then enlargement of many renal cysts, these cysts can bleed causing local symptoms (Loin pain, infection, haematuria) and over the long term can grow large enough to reduce renal function (causing CKD). Cysts also form on the liver, pancreas, spleen and ovaries but very rarely cause symptoms. ADPKD is the most common form of serious congenital renal disease and makes up around 10% of patients on renal replacement therapy.
As the condition is autosomal dominant most cases have some form of family history, if one parent has the disease there is a 50% chance of passing it on to their children. If both parents have the disease, any children who are homozygous will die in utero. As with most renal disorders, the main cause of mortality in ADKD is CVS disease
What will you find on a history taking of Polycystic Kidney Disease?
Symptoms: Most patients present with a complication of renal disease
Abdominal/Loin Pain – As a result of haemorrhage, trauma, Renal stones/Blood Clots, UTI’s, Large Cysts,
Inability to concentrate urine– Nocturia, Polyuria
Haematuria – Polycystic Kidneys are much more vulnerable to trauma
Increased risk of UTI/Pyelonephritis and renal stones
Patient may present in Renal Failure
Extra Renal Disease – Increased risk of Mitral and aortic valve diseases and Subarachnoid Bleeds (Due to berry aneurisms)
Risk Factors:
Family history
Differentials:
Simple renal cyst – Can occur in older age, there will only be one cyst and it will be smooth and round
Other cause of CKD – Progressive loss of renal function associated with systemic disease e.g. Vasculitis, SLE, Diabetes
AKI – Acute presentation with patient very unwell.
What will you find on examination of Polycystic Kidney Disease?
Hand:
Hypertension – Can occur even when renal function is normal
Chest:
Heart failure - as a result of hypertension
Mitral/Aortic valve disease
Abdomen:
Enlarged ballotable kidneys
What investigaitons will you order in Polycystic Kidney Disease?
Bedside:
Urinalysis – Looking for infection, protein or haematuria
Bloods:
FBC – Normally CKD causes reduced EPO and a normocytic anaemia, ADPKD cysts can produce EPO causing polycythaemia
U&E – Looking at renal function
Bone profile (ALP, Calcium, Magnesium, Phosphate) – Looking for any bone disease because of Renal disease, ALP (Raised), Calcium (Low), Phosphate (Raised), Magnesium (Low)
Imaging:
Renal Ultrasound – Used to assess progression and as first line screening imaging, will show the cysts
Special Tests:
Gene Testing
What is the treatment of Polycystic Kidney Disease?
What is the treatment: There is no curative treatment, only supportive
Lifestyle:
Education - Genetic counselling, talk to family members explaining their risk and need for screening and explain the progressive nature of the disease
Screen people over 18 annually with US scans, basic bloods panel and BP (if family history). Screen children when they are 18 as can’t see small cysts on US (Up until 18, Blood pressure can be used as a less specific screening tool)
Advise on no contact sports as this risk trauma to the kidney
Reduce CVS risk factors
Regular Monitoring in primary and secondary care
Limit the use nephrotoxic drugs e.g. NSAIDS
Medical: Symptom and complication management
Hypertension – ACEi first line treatment (Target BP 130/80)
UTI – Antibiotics
Haematuria – Analgesia, Bed rest, Lots of fluids. Normally self-limiting and lasting a week
Pain – Analgesia and consider pain team referral as hard to manage without the use of nephrotoxic drugs
CKD - Renal Replacement therapy in late stages
Surgical:
Nephrectomy - may be required in severe infection/untreatable pain
