Polycystic Kidney Disease

Exam Cram

• Polycystic kidney disease is a genetic condition resulting in cysts on kidney that commonly progress to end stage renal disease, requiring renal replacement therapy

• Presentation: asymptomatic, haematuria, progressive renal failure, family history, SAH

• Diagnosis: gene abnormality PKD; screening AUSS

• Management: ADH antagonist, ACEi for HTN, Na restriction < 2g/d; renal replacement therapy

Autosomal Dominant (ADPKD)

Background

• ADPKD is a genetic condition that causes primarily cysts in the kidneys leading to renal failure but also liver, pancreatic &splenic cysts and cerebral berry aneurysms 10%, causing SAH

• ADPKD associated with increase cardiovascular events (MI, Stroke) and Renal Cancer 

• Exam favourite of PACES

Assessment

Presentation

• Asymptomatic- incidental CKD or on imaging

• Haematuria, renal failure- lethargy, overload, hyperuraemia

• Thunderclap headache (SAH)

Examination

• Bilateral ballotable masses- able to get above, downward with inspiration

• May have signs of ESRF or RRT- renal transplant/ dialysis; and nephrectomy

• Consider cerebral brain aneurysm if CN VI palsy

• Hypertension (disease) 

Investigations

• Rising creatinine, urine dip: protein & blood

• Imaging of abdomen (USS, CT)- cysts on kidneys +- liver & pancreas

• Genetic testing PKD +ve

Diagnosis

Diagnostic criteria: genetic testing + imaging findings

• Screening test for families: AUSS (90% specificity over age 20)

Classification: as per genetic abnormality

1. ADPKD 1: PKD1- 80% cases, chromosome 16 (earlier onset, increased progression to ESRD)

2. ADPKD 2: PKD2- 15% cases, chromosome 4 (later onset, reduced progression to ESRD)

Management

Firstly

• ACE inhibitor for HTN

• Statin for hyperlipidaemia

• High fluid, Na restriction < 2g/d diet

• ADH antagonist slows progression

Long term

• CKD prognosis: 50% end up with RRT by age 60yrs, 7% of  total RRT 

  • Renal Transplant is usually preferred prior to starting dialysis, to avoid the complications of dialysis

MDT

• Renal consultant- medication & monitor eGFR

• Transplant surgeon - arrange for renal transplant

• GP- monitor BP

• Genetic Counselling 

• PT, OT, psychology, dietician, 

Nephrectomy Indications

Ideally avoided.

• Create space for Renal Transplant

• Progression to Renal Cell Carcinoma

• Persistent haematuria, infection or pain

Autosomal Recessive (ARPKD)

Key Points

• Caused by genetic mutation PKHD1, inherited autosomal recessively

• Life threatening disease of childbirth with 1 in 3 babies not surviving first four weeks of life

• Affects 1/20,000 neonates and can cause liver and renal failure

• Management can include renal replacement therapy

Written 2024, updated in 2026. 

References

1. https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/