cystic diseases of the kidney

Question 1

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Answer 1

Most common hereditary renal disease in US
Caused by 2 different genes:
ADPKD1 (worse, more common)
ADPKD2

Question 2

ADPKD Diagnostic Criteria

Answer 2

At least 2 cysts in 1 kidney or 1 cyst in each kidney in an at-risk patient younger than 30 years.
At least 2 cysts in each kidney in an at-risk patient aged 30-59 years.
At least 4 cysts in each kidney for an at-risk patient aged 60 years or older

Question 3

Infantile– Autosomal recessive (ARPKD)

Clinical presentation

Answer 3

Hx of oligohydramnios, (an unusually small amount or lack of amniotic fluid.)
Difficult delivery because of enlarged fetal kidneys
Respiratory distress may be present
Pneumomediastinum and pneumothorax are common
Renal function is usually compromised

Question 4

Medullary Sponge Kidney

Answer 4

Common, benign disorder
Often detected incidentally on abdominal radiographs
Manifests as a result of passage of a renal calculus (10% of patients with renal stones)
Renal failure is not a feature of this condition