ADPKD

Question 1

What is ADPKD?

Answer 1

The most common inherited cause of kidney disease

Question 2

What are the 2 types of ADPKD?

Answer 2

ADPKD Type 1 - More common, chromosome 16 and presents with renal failure earlier
ADPKD Type 2 - Less common, chromosome 4

Question 3

How are relatives screened for ADPKD?

Answer 3

Renal ultrasound

Question 4

What is the diagnostic criteria for ADPKD

Answer 4

• Positive family history
• two cysts, unilateral or bilateral, if aged < 30 years
• two cysts in both kidneys if aged 30-59 years
• four cysts in both kidneys if aged > 60 years

Question 5

How can ADPKD present?

Answer 5

• HTN
• Recurrent UTI
• Flank pain
• Haematuria
• Palpable kidneys
• Renal impairment

Question 6

What are some extra-renal manifestations of ADPKD?

Answer 6

• Liver cysts: most common
• Berry aneurysms: SAH
• Mitral valve prolapse, aortic dilation, aortic dissection

Question 7

How is ADPKD managed?

Answer 7

• Tolvaptan can be used in patients with rapidly progressing disease or those with CKD stage 2/3 at the start of treatment

Question 8

How is Autosomal Recessive Polycystic Kidney Disease often picked up?

Answer 8

• antenatal scans with oligohydramnios (reduced amniotic fluid volume due to reduced urine output).
• Oligohydramnios leads to underdevelopment of the fetal lungs (pulmonary hypoplasia) and respiratory failure shortly after birth.
• Patients may require haemodialysis within the first few days of life
• dysmorphic features, such as underdeveloped ear cartilage, low-set ears and a flat nasal bridge. End-stage renal failure usually occurs before reaching adulthood.