Polycystic Kidney Disease

Question 1

What is the inheritance of polycystic kidney disease?

Answer 1

Autosomal dominat: Most common Inherited renal disorder with continuous formation and growth of cyst in the kidney, causing progressive renal impairment due o nephron destruction

Question 2

What is the gene affected in polycystic kidney disease?

Answer 2

Chromosome 16 for PKD1
Chromosome 4 for PKD2

Question 3

How does polycystic kidney disease present?

Answer 3

Flank pain
Haematuria
Fever and systemic illness
Polyuria and nocturia

Question 4

What are the examination findings for kidney disease?

Answer 4

Bilateral large masses in the flanks
Hepatomegaly
Hypertension
Spenomegaly
Pan-systolic murmur due to mit

Question 5

What is the key diagnostic test for polycystic kidney disease?

Answer 5

Ultrasound of the kidneys is the key diagnostic test for polycystic kidney disease

Question 6

What is required for diagnosis of polycystic kidney disease in patients 15-39 years old?

Answer 6

Presence of three bilateral renal cysts

Question 7

What is required for diagnosis of polycystic kidney disease in patients 4-559 years old?

Answer 7

Two cysts in each kidney
For those over 60, at last 4 cysts

Question 8

What is the medical management of polycystic kidney disease?

Answer 8

Tolvaptan, vasopressin V2 receptor antagonist

Antihypertensives with ACE inhibitors and angiotensin - II receptor antagonists

Question 9

What is the surgical managmeent of polycystic kidney disease?

Answer 9

Drainage of painful or infected renal cysts like laparotomy
Nephrectomy

Question 10

What are the complications of polycystic kidney disease?

Answer 10

Cyst haemorrhage and haematuria
Cyst infection
Recurrent urinary tract nfection
Renal stones

Question 11

What is the most common extrarenal manifestation?

Answer 11

Liver cysts by the age of 30, causing abdominal and back pain, abdominal distension, early satiety and gastro-oesophageal reflux

Question 12

What is poor prognosis for polycystic kidney disease?

Answer 12

PKD1 genotype
Younger age of onset
Larger kidneys
Hypertension
Male sex

Question 13

Which aneurysm are patients with at risk of?

Answer 13

Cerebral berry aneurysm causing subarachnoid haemorrhage

Question 15

What are the complications with polycystic kidney disease?

Answer 15

Colonic diverticula
Mitral valve prolapse
Cyst haemorrhage
Pancreatic cyst leading to chronic pancreatitis

Liver cyst causing liver fibrosis

Question 16

Which complication is present exclusively in men?

Answer 16

Seminal vesicles cysts

Question 17

What cardiac risks are there?

Answer 17

Mitral valve prolapse
Aortic insufficiency

Question 18

What is used for prevention in polycystic kidney disease?

Answer 18

Tolvaptan

Question 19

What is type III RTA?

Answer 19

Rare and occurs because of aotsomal recessive carbonic anhydrase II deficiency, associated with hypokalemia

Question 20

How do patients with type III RTA present?

Answer 20

Patients present in childhood with growth restriction, learning disability, osteopetrosis and cerebral calcification

Question 21

What is the criteria for number of renal cysts in 15-39 year olds?

Answer 21

3 cysts

Question 22

What is the criteria for number of renal cysts in 40-59 year olds?

Answer 22

2 renal cysts

Question 23

What is sufficient to exclude ADPKD?

Answer 23

Patient aged 40+ with no renal cysts

Question 24

Which drugs should be avoided in polycystic kidney disease?

Answer 24

Nephrotoxic drugs and oestrogen because they will promote hepatic syst growth

Question 25

What should be avoided in polycystic disease?

Answer 25

Avoiding contract sports which can cause rupture

Question 26

What is the drug treatment of stage 2 or 3 CKD in polycystic kidney disease

Answer 26

Tolvaptan to slow cst growth and renal impairment

Question 27

How are cysts drained?

Answer 27

Percutaneous lay Laparoscopically Laparotomy

Question 28

How are intracranial aneurysms managed?

Answer 28

If detected on screening, treated prophylacticlly with clipping or coiling

Question 29

What should be suspected in PCKD and fever, abomdial pain and raised inflammatory markers?

Answer 29

Cyst infection

Question 30

What is a feature of polycystic kidney disease related to blood pressure?

Answer 30

Hypertension ## Footnote Hypertension is commonly observed in patients with polycystic kidney disease.

Question 31

List some features of polycystic kidney disease.

Answer 31

* Recurrent UTIs * Flank pain * Haematuria * Palpable kidneys * Renal impairment * Renal stones ## Footnote These features can vary in severity among patients.

Question 32

What management option is available for select patients with polycystic kidney disease?

Answer 32

Tolvaptan ## Footnote Tolvaptan is a vasopressin receptor 2 antagonist used to slow the progression of the disease.

Question 33

According to NICE, when is tolvaptan recommended for treating ADPKD in adults?

Answer 33

* Chronic kidney disease stage 2 or 3 at the start of treatment * Evidence of rapidly progressing disease * Provided with the discount agreed in the patient access scheme ## Footnote These criteria ensure that tolvaptan is used appropriately.

Question 34

True or False: Recurrent UTIs are a feature of polycystic kidney disease.

Answer 34

True ## Footnote Recurrent urinary tract infections can occur due to renal impairment and other complications.

Question 35

Fill in the blank: A feature of polycystic kidney disease includes _______.

Answer 35

palpable kidneys ## Footnote Palpable kidneys may indicate enlargement due to cyst development.

Question 36

What is a potential complication of polycystic kidney disease related to the urinary system?

Answer 36

Renal stones ## Footnote The formation of renal stones can occur due to changes in urine composition and kidney function.