309 - Polycystic Kidney Disease and other disorders of tubule growth and development Flashcards
PKD is usually __ in adults, and __ in children.
dominant
recessive
The main pathology in PKD is __
Ciliopathies
What are the 4 damage mechanism in PKD?
uncontrolled proliferation of cells
increased fluid excretion
decreased differentiation of cells
extra cellular matrix increase
PKD 1 is __ common than PKD 2
more
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.
cilia calcium cAMP protein kinase A cyst
ADPKD is __ in the first stages.
asymptomatic
ADPKD symptoms include: 5
BP increase flank pain abdominal mass hematuria nephrolithiasis
In ADPKD the cyst develop __, starting with a small number at the age of __, increasing into the thousand during the _ decade.
bilaterally
30
4
The kidney can increase up to _ times in length, and _ times in weight in ADPKD patients.
4
20
More than half of the nephrolithiasis in ADPKD is made of __ acid.
uric
The 2nd most common mortality cause in ADPKD is __.
infection
How will you differentiate between malignancy and complex cyst in ADPKD patients?
MRI/CT
___uria is not a common finding in ADPKD.
protein
The most common extra renal symptoms in ADPKD is __ cysts; Usually in ___ women.
hepatic
Polyparous
What are the main risk factors for ESRD in ADPKD patients? 5
young age HTN gross hematuria polyparous large kidney
__ morbidity increases the mortality of ADPKD patients.
cardiac
RCC is a rare, uncommon complication, which in ADPKD patients tend to be more ___, __, __.
bilateral
multicentric
sarcomatoid
ICA (__) is 4-5 times more common in ADPKD. 20-50% will experience warning __. Initial examination will be done by __, and diagnosis with __.
intracranial aneurysm
headache
CT
lumber puncture
Diffuse arterial dolichoectasias can occur, leading to __
stroke
Which heart valve is more likely to get involved in ADPKD?
MVP
ADPKD increases the frequency of __ and __.
hernias
diverticula
ADPKD diagnosis is usually based on __ and __ evidence.
family history
cyst
Age criteria for ADPKD:
15-29: ___
30-59: __
>60: __
2 cyst in at least one kidney
2 cysts in each kidneys
4 cysts in each kidney
Which imaging is used for the screening of in risk ADPKS population?
US
ADPKD treatment is __ specific.
not
What is the goal BP in ADPKD patients?
140/90
Treating infected cysts is done by lipid soluble Abx: 3
quinolones
chloramphenicol
TMP SMX
Over 50% of ADPKD will eventually require ___
dialysis
ARPKD can be diagnosed intra __ or in the __ stage.
uterine
neonatal
ARPKD diagnostic signs include: 4
renal hypertrophy
decreased fetal urine
oligohydramnios
pulmonary hypoplasia
New born die usually __, 60% after _ month.
post partum
1
What hepatic signs are possible in ARPKD? 5
biliary dysgenesis periportal fibrosis congenital hepatic fibrosis Caroli disease (dilatation of large intrahepatic ducts) portal HTN
ARPKD diagnosis is possible from the __ week of pregnancy.
24th
For Caroli disease treatment includes __ shunt.
port systemic
What other disease involve large renal cysts? 2
tuberous sclerosis
von Hippel- Lindau disease (VHL)
What is the most common tuberous sclerosis finding?
renal angiomyolipoma
In tuberous sclerosis there is a higher frequency of __, and cysts > _ cm will require __ surgery. The cyst tend to __ less.
RCC
4
prophylactic
bleed
VHL is an __ RCC.
acquired
Which genetic disease also involve tubules formation?
AD tubulointerstitial kidney disease ADTKD (MCKD1) ADTKD UMOD (MCKD2) ADTKD-REN nephronophthisis
