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Renal > Inherited Renal Diseases > Flashcards

Inherited Renal Diseases Flashcards

0
Q

pdk1 patients vs pdk2 patients

A

pdk1 present younger and have a worse px

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1
Q

genetic mutations in ADPKD

A

PD1- chrom 16–>produces polycstin (cell membrane protein that mediates cell-cell/cell-matrix interactins
PKD2- chrom 4- encodes polycstin 2–>role in Ca signaling

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2
Q

extra renal manifestations of ADPCKD

A

seminal vesicle and/or epidymal cysts are found in 40% of men
htn
hepatic cysts, pancreatic cysts

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3
Q

ADPKD does not develop cysts in

A

ovaries

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4
Q

ADPKD also manigests as

A

CT abnormalities

-cardiac valce disease, aortic root dilation, cerebral aneurysms, colonic diverticula

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5
Q

most common cardiac valve abnormality in APCKD

A

mitral valve prolpase

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6
Q

maturation arrest hypothesis

A

in addition to first hit of bad genes, epithelial cells from renal cysts have been found to overexpress epithelial growth factor (EGF) receptors–>increase downstream signalt ransduction via MAPK and JAK-STAT pathways–>increased cystic proliferation

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7
Q

CFTR

A

camp regulated Cl channel implicated in secretory fluid regulation in ADPKD

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8
Q

primary cilium’s job

A

direct the three-d geometry of development- disruption of this may lead to abnormal morphology of tubules

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9
Q

therapies

A

block EGFR, JAK-STAT, MAPK/ERK, MTOR
block CFTR and downstream cAMP signal
block vasopressin release/binding to R–>decrease intracell camp

*avoid caffeine–>increases camp

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10
Q

APCKD is a ciliopathy

A

polycystin 1 and 2 are located on primary cilium, and ARPKD has a PKHD1 mutation–>fibrocystin–also found on primary cilium

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11
Q

mutations in kif31 and ift88

A

also show issues with synthesis of primary cilia

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12
Q

loss of heterozygosity

A

patients born with one good gene and are okay until seomething messes up the second normal gene

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13
Q

TSC1 and TSC2

A

tumor suppressor genes critical for regulation progression through teh cell cycle via effects on mTOR and CDC25C

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14
Q

how does tsc1 and tsc2 work

A

tsc 1 encodes–>hamartin tsc 2 encodes–>tuberin

hamartin and tuberin combine and downregualate mtor and plk1

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15
Q

if mtor is inhivited

A

the cell will not progress throug cell cycle

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16
Q

tuberous scleoriss mutatiosn

A

mutated genes ont sc1 on chrom 9 and tsc2 on chrom 16

17
Q

tuberous scleoris sresults in

A

tumors and voluminous cytoplasm in kidneys, skin, cns and heart

18
Q

renal TS has three forms

A

renal angiomyolipomas
renal cysts
renal cell carcinoma

19
Q

2-3% of patients with large genomic deletions of TSC2 will have

A

adjacent PKD type 1 gene affected leading to combined TS and APCKD

20
Q

VHL gene

A

tumor suppressor gene located on short arm of chrom 3

21
Q

lack of VHL

A

increase GF including VEGF, PDGF-B, TGFa–>lead to tumor growth

22
Q

H1F1A

A

usually these growth factors taht VHL lets happen happen with hypoxia via H1FA
without functional pVHL, H1f1s just produce a shit ton of factors

23
Q

VHL syndrome and missense mutatiosn

A

signficantly greater risks for developing pheos

24
Q

most common lesions of VHL

A

benign neoplasms called hemangioblastomas (HABs)

25
Q

HABs

A

usually present young and are recurrent–>delay surgery until tumor so big it is causing symptoms

26
Q

second most common VHL tumor

A

retinal capillary hemangioblastoma

27
Q

third most common VHL tumor

A

renal cysts adn clear cell renal cell carcinoma

28
Q

what do you do with an RCC

A

watch it carefully- want to preserve kidney fx so weigh surgery only when necessary

transplants last resort because IS treatment makes tumors happy

29
Q

most common cause of death vhl patients

A

clear cell renal cell carcinma

30
Q

all VHL tumors

A

hemangioblastoma
retinal capillary hemangioblastoa
renal custs and RCC
pheos

31
Q

all tumors of TS

A 
brain lesions
rhabdomyomas
angiomyolipomas
cysts
rcc
32
Q

characterstic tumor of TS

A

SGCT–children present with hydrocephalus

33
Q

CV manifestations TS

A

coarction of aorta, constriction of major vessels, aneurysms

34
Q

angiomyolipoma

A

benihn yumot composed of blood vessels, smooth muscle, and fat

35
Q

symptoms of angios

A

usually asymptomatic unless rupture

36
Q

treatment of angios

A

surgery
renal artery emboliation
nephrectomy
mtor inhibitors (rapamycin)

37
Q

patients with TSC may also develop

A

lympahngioleiomymatosis

cystic disease which affects pulmonary fx

38
Q

LAM usually presents with

A

dyspnea or pneumothroax

39
Q

TSC and derm

A

hypopihmented macules (ash leaf spots)
angiofibromas in the malar region offace
shagreen pathces over lower trunk
fibrous plaques on forehead

Renal (17 decks)

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