Polycystic Kidney Disease

Question 1

Define polycystic kidney disease.

Answer 1

Polycystic kidney disease (PKD) is part of a heterogeneous group of disorders characterised by renal cysts and numerous systemic and extrarenal manifestations. There are 2 types: autosomal-dominant PKD (ADPKD) and autosomal-recessive PKD (ARPKD). This monograph concentrates on ADPKD, the more common form.

Question 2

Explain the aetiology/risk factors of polycystic kidney disease.

Answer 2

Family history of autosomal-dominant PKD (ADPKD)
Family history of cerebrovascular event

Question 3

Summarise the epidemiology of polycystic kidney disease.

Answer 3

Autosomal-dominant PKD (ADPKD) occurs worldwide and in all races. Prevalence in the US is estimated to be between 1 in 400 (including observed and estimated autopsy cases) and 1 in 1000 (clinically diagnosed cases only).

Question 4

Recognise the presenting symptoms of polycystic kidney disease. Recognise the signs of polycystic kidney disease on physical examination.

Answer 4

Family history of autosomal-dominant PKD (ADPKD) or end-stage renal disease (ESRD)
Family history of cerebrovascular event
Renal cysts
Hypertension
Abdominal/flank pain
Haematuria
Palpable kidneys/abdominal mass
Headaches
Dysuria, urgency, suprapubic pain, fever
Cardiac murmur
Abdominal hernia or rectus abdominis diastasis
Hepatomegaly

Question 5

Identify appropriate investigations for polycystic kidney disease and interpret the results.

Answer 5

Renal ultrasound
CT scan of abdomen/pelvis
MRI of abdomen/pelvis
Urinalysis/Gram stain and urine culture
Serum electrolytes, urea, creatinine
Fasting lipid profile
ECG
CT scan of brain