309 - Polycystic Kidney Disease and other disorders of tubule growth and development

Question 1

PKD is usually __ in adults, and __ in children.

Answer 1

dominant

recessive

Question 2

The main pathology in PKD is __

Answer 2

Ciliopathies

Question 3

What are the 4 damage mechanism in PKD?

Answer 3

uncontrolled proliferation of cells
increased fluid excretion
decreased differentiation of cells
extra cellular matrix increase

Question 4

PKD 1 is __ common than PKD 2

Answer 4

more

Question 5

The pathophysiology of ADPKD is of:
__ decreased function -> __ signaling damage -> increased adenylyl cyclase function + decreased phosphodiesterase-> increase of __-> increase in __ -> promoting cell proliferation and fluid secretion -> __ formation.

Answer 5

cilia
calcium
cAMP
protein kinase A
cyst

Question 6

ADPKD is __ in the first stages.

Answer 6

asymptomatic

Question 7

ADPKD symptoms include: 5

Answer 7

BP increase
flank pain
abdominal mass
hematuria 
nephrolithiasis

Question 8

In ADPKD the cyst develop __, starting with a small number at the age of __, increasing into the thousand during the _ decade.

Answer 8

bilaterally
30
4

Question 9

The kidney can increase up to _ times in length, and _ times in weight in ADPKD patients.

Answer 9

4

20

Question 10

More than half of the nephrolithiasis in ADPKD is made of __ acid.

Answer 10

uric

Question 11

The 2nd most common mortality cause in ADPKD is __.

Answer 11

infection

Question 12

How will you differentiate between malignancy and complex cyst in ADPKD patients?

Answer 12

MRI/CT

Question 13

___uria is not a common finding in ADPKD.

Answer 13

protein

Question 14

The most common extra renal symptoms in ADPKD is __ cysts; Usually in ___ women.

Answer 14

hepatic

Polyparous

Question 15

What are the main risk factors for ESRD in ADPKD patients? 5

Answer 15

young age
HTN
gross hematuria 
polyparous 
large kidney

Question 16

__ morbidity increases the mortality of ADPKD patients.

Answer 16

cardiac

Question 17

RCC is a rare, uncommon complication, which in ADPKD patients tend to be more ___, __, __.

Answer 17

bilateral
multicentric
sarcomatoid

Question 18

ICA (__) is 4-5 times more common in ADPKD. 20-50% will experience warning __. Initial examination will be done by __, and diagnosis with __.

Answer 18

intracranial aneurysm
headache
CT
lumber puncture

Question 19

Diffuse arterial dolichoectasias can occur, leading to __

Answer 19

stroke

Question 20

Which heart valve is more likely to get involved in ADPKD?

Answer 20

MVP

Question 21

ADPKD increases the frequency of __ and __.

Answer 21

hernias

diverticula

Question 22

ADPKD diagnosis is usually based on __ and __ evidence.

Answer 22

family history

cyst

Question 23

Age criteria for ADPKD:
15-29: ___
30-59: __
>60: __

Answer 23

2 cyst in at least one kidney
2 cysts in each kidneys
4 cysts in each kidney

Question 24

Which imaging is used for the screening of in risk ADPKS population?

Answer 24

US

Question 25

ADPKD treatment is __ specific.

Answer 25

not

Question 26

What is the goal BP in ADPKD patients?

Answer 26

140/90

Question 27

Treating infected cysts is done by lipid soluble Abx: 3

Answer 27

quinolones chloramphenicol TMP SMX

Question 28

Over 50% of ADPKD will eventually require ___

Answer 28

dialysis

Question 29

ARPKD can be diagnosed intra __ or in the __ stage.

Answer 29

uterine | neonatal

Question 30

ARPKD diagnostic signs include: 4

Answer 30

renal hypertrophy decreased fetal urine oligohydramnios pulmonary hypoplasia

Question 31

New born die usually __, 60% after _ month.

Answer 31

post partum | 1

Question 32

What hepatic signs are possible in ARPKD? 5

Answer 32

``` biliary dysgenesis periportal fibrosis congenital hepatic fibrosis Caroli disease (dilatation of large intrahepatic ducts) portal HTN ```

Question 33

ARPKD diagnosis is possible from the __ week of pregnancy.

Answer 33

24th

Question 34

For Caroli disease treatment includes __ shunt.

Answer 34

port systemic

Question 35

What other disease involve large renal cysts? 2

Answer 35

tuberous sclerosis | von Hippel- Lindau disease (VHL)

Question 36

What is the most common tuberous sclerosis finding?

Answer 36

renal angiomyolipoma

Question 37

In tuberous sclerosis there is a higher frequency of __, and cysts > _ cm will require __ surgery. The cyst tend to __ less.

Answer 37

RCC 4 prophylactic bleed

Question 38

VHL is an __ RCC.

Answer 38

acquired

Question 39

Which genetic disease also involve tubules formation?

Answer 39

``` AD tubulointerstitial kidney disease ADTKD (MCKD1) ADTKD UMOD (MCKD2) ADTKD-REN nephronophthisis ```