Polycystic Kidney Disease
D efinition Ageneticdisorderofabnormalrenaltubulescausingformationofmultiplecystswithinthe
kidney
Autosomalrecessiveneonatalpacethatisnearly fatalinaero
always
mane twice oligonydramm
go
gain.intwaguanyynpneaiatoetaiespyInaewjo.mn.su
Fibrocysinmutation
A etiology 2TYPES autosomalrecessive PKDImutgj.ggEdie.EE
pas
Ii.I IIIingoIIIaIomwem
raI
matisacanonannecinnocens
mutationencodespaycys.in protein
B EfEnesatmiieanoI.EEa
abnormalgrowthoftubuleas
TheTwoHitHypothesis 1Detection ofhow production offluid andaoiaproaucnonioaucysi.cz
mostpactsbornwithonedominantmutantanele Ctl if Ctr atbirththen unlikelytosurvive dose
line almostgauranieedtogainasecondmutationc a now
Duringice again carina
mereisinsuaicientanenonapay
Bornwithoneinheritedabnormalgene lossof noma hacoype cystdevelopment
canbePCkDtwith No AFFECTED PARENTS IF Hx duetomosaicism
parentcanhaveocnmunecsex.eumutation unaffectedbutcansaypasstoson
canbemosaicinancellscasympwman.ci andpassiton
Sigmnspfdoms
Hypertension Backor louipainhaematuria bloating1fullness headaches colickykidney
storepaoi.vn
PKD1 earlyonset ssyears moresevere
PKD2 Lateronset c 73years lesssevere
pathophysiology usuallythecilia aurinarytowandinitiate caninaux
proteinsdue
thisnot sizeand a Proliferation.se
onlywww.connaa.iemommybutweengrowthanddivisionacell
Abnormalprocesses ayzw.z
P
TEAM openingofionchannels avid accumulation
ooI
a.si sna
pkn.mAQP1 a gig nor
vasopressin
inon ofCem Nat
sgyaa.io
asecretioninncyst
Activation
andHaotouow pqa
5th camp
RENALFAILUREgin decade of life
onlys i ofnephronloss
Despite hypoxia apoptosis
cystscompresssurroundingsnares abloodflow peas Bp
vascularsclerosisandfibrosis runner renal
exacerbaies t
olderandlargerkidneys dropineoeebyn.snyear failure
Riskfactors Just family Hx presence of mutant polycystin
gene
investigations usedto be
byultrasound scan for 350 risk FHx
1539 y o 33 total Notideal mayhave PCKD at
40 59 no 2 ineach 40butonly 2 cysts in total
760 Ho 4 ineach a longtimeuntil diagnosis
16 14No Mrl 210inboth Remember
Now genetictesting is that another
carriedout Notroutine hit hasto
occurbefore
usedwhenthereis Pt is c 1
Dsevereearlyonset faffdarfyfffming
2 NeemedbyhootestPreimplanted
Need
donors
toandrenal Doesn't Necessarily
Happen
D efinition Ageneticdisorderofabnormalrenaltubulescausingformationofmultiplecystswithinthe
kidney
Autosomalrecessiveneonatalpacethatisnearly fatalinaero
always
mane twice oligonydramm
go
gain.intwaguanyynpneaiatoetaiespyInaewjo.mn.su
Fibrocysinmutation
A etiology 2TYPES autosomalrecessive PKDImutgj.ggEdie.EE
pas
Ii.I IIIingoIIIaIomwem
raI
matisacanonannecinnocens
mutationencodespaycys.in protein
B EfEnesatmiieanoI.EEa
abnormalgrowthoftubuleas
TheTwoHitHypothesis 1Detection ofhow production offluid andaoiaproaucnonioaucysi.cz
mostpactsbornwithonedominantmutantanele Ctl if Ctr atbirththen unlikelytosurvive dose
line almostgauranieedtogainasecondmutationc a now
Duringice again carina
mereisinsuaicientanenonapay
Bornwithoneinheritedabnormalgene lossof noma hacoype cystdevelopment
canbePCkDtwith No AFFECTED PARENTS IF Hx duetomosaicism
parentcanhaveocnmunecsex.eumutation unaffectedbutcansaypasstoson
canbemosaicinancellscasympwman.ci andpassiton
Sigmnspfdoms
Hypertension Backor louipainhaematuria bloating1fullness headaches colickykidney
storepaoi.vn
PKD1 earlyonset ssyears moresevere
PKD2 Lateronset c 73years lesssevere
pathophysiology usuallythecilia aurinarytowandinitiate caninaux
proteinsdue
thisnot sizeand a Proliferation.se
onlywww.connaa.iemommybutweengrowthanddivisionacell
Abnormalprocesses ayzw.z
P
TEAM openingofionchannels avid accumulation
ooI
a.si sna
pkn.mAQP1 a gig nor
vasopressin
inon ofCem Nat
sgyaa.io
asecretioninncyst
Activation
andHaotouow pqa
5th camp
RENALFAILUREgin decade of life
onlys i ofnephronloss
Despite hypoxia apoptosis
cystscompresssurroundingsnares abloodflow peas Bp
vascularsclerosisandfibrosis runner renal
exacerbaies t
olderandlargerkidneys dropineoeebyn.snyear failure
Riskfactors Just family Hx presence of mutant polycystin
gene
investigations usedto be
byultrasound scan for 350 risk FHx
1539 y o 33 total Notideal mayhave PCKD at
40 59 no 2 ineach 40butonly 2 cysts in total
760 Ho 4 ineach a longtimeuntil diagnosis
16 14No Mrl 210inboth Remember
Now genetictesting is that another
carriedout Notroutine hit hasto
occurbefore
usedwhenthereis Pt is c 1
Dsevereearlyonset faffdarfyfffming
2 NeemedbyhootestPreimplanted
Need
donors
toandrenal Doesn't Necessarily
Happen
