APKD

Question 1

Group of genetically heterogeneous disorders and a leading cause of kidney failure

Answer 1

Polycystic Kidney Disease

Question 2

The most common life-threatening monogenic disease

Answer 2

autosomal dominant form of polycystic kidney disease (ADPKD)

Question 3

Characterized by PROGRESSIVE FORMATION OF EPITHELIAL LINED CYSTS IN THE KIDNEY

Answer 3

ADPDK

Question 4

The MC phenotype shared by many ciliopathies

Answer 4

kidney cysts

Question 5

Frequent symptom in ~60% of patients with ADPKD

Answer 5

back or flank pain

Question 6

Risk factors in ESRD progression in ADPKD

Answer 6

early diagnosis of ADPKD
hypertension
gross hematuria
multiple pregnancies
large kidney size

Question 7

The MC extrarenal complication

Answer 7

liver cysts derived from the biliary epithelia

Question 8

Sufficient for diagnosis among at-risk subjects between 15 and 29 years of age with a sensitivity value of 96% and specificity value of 100%

Answer 8

presence of at least 2 renal cysts (unilateral or bilateral)

Question 9

More sensitive than ultrasonography and can detect cysts of smaller size

Answer 9

CT scan and T2-MRI, with and without contrast enhancement

Question 10

Specific treatment strategies to ADPKD

Answer 10

slowing renal disease progression

lowering cardiovascular risk

Question 11

Responsible for all the clinical presentations of ARPKD

Answer 11

PKHD1