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8/7/2019 Autosomal Dominant/Recessive Polycystic Kidney Disease
1/2
; y j t q t i o k ` g ~ k o k ` q k j = ? ; 6
Ktseve`ki Ce`gjkjs ]eiwfwvsgf Lgcjdw Cgvdkvd]ksoeiehw
Foqe`eve`d ;2/]LC;' " foqe` 3/]LC1'Sod lgcjdwv kqd hqevviw djikqhdc) xgso tisg}id fwvsv vstccgjh sodvtqbkfd eb sod lgcjdw*Sod fwvsv
fejskgj vsqkx-feieqdc bitgc soks `kw afe`d od`eqqokhgf*
v}odqgfki) rkqw gj vg~d) cgvsqgatsdc drdjiw soqethoets sod feqsd kjc `dctiik*
Fwvsv beq` xodj k vdfejc ogs fktvdv k ve`ksgf `tsksgej gj sod jeq`ki kiidid eb k statid fdii) idkcgjh se `ejefiejki }qeigbdqksgejeb sod statikq d}gsodigt`* Sod qd`kgjgjh qdjki }kqdjfow`k qdrdkivrkqwgjh cdhqddv eb statikq ksqe}ow) gjsdqvsgsgki bgaqevgv) kjc jd}oqevfidqevgv*
Figjgfki Bdkstqdv
`kw }qdvdjs ks kjw khd ats `evs bqd{tdjsiw fktvdv vw`}se`v gj sod 6 qc eq 3 so
cdfkcd*foqejgf bikjl }kgj `kvv dbbdfs eb sod djikqhdc lgcjdwvKftsd }kgj gjcgfksdv
gjbdfsgej) tqgjkqw sqkfs eavsqtfsgej aw fies vsejd) vtccdj od`eqqokhd gjse k fwvs
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c%s tqgjd }O)tqgjd fgsqksd) " tqgjkqw vskvgvbqe` cgvseqsgej eb sod feiidfsgjh vwvsd` aw fwvsv
Ow}dqsdjvgej c%s 1= se gjsqkqdjki gvfod`gk bqe` cgvseqsgej eb sod qdjkikqfogsdfstqd) se kfsgrksgej eb sod qdjgj-kjhgesdjvgjvwvsd`*
DVQCTSG `kw gjreird
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ogho od`ksefqgsv kv dqwsoqe}egdsgj }qectfsgej gv oghoBitgc erdqiekc c%s sdjcdjfw beq qdjki vkis xkvsgjh
Od}ksgf fwvsv Fwvsv kqd hdjdqkiiw kvw`}se`ksgfigrdq btjfsgej jeq`ki) soetho xe`dj `kw cdrdie}`kvvgrd od}ksgf fwvsgf cgvdkvd ej effkvgej*
Gjsqkfqkjgkikjdtqwv`v
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Vskjckqc c fqgsdqgk ks idkvs soqdd se bgrdfwvsv gj dkfo lgcjdw
/FS' vfkj : vdjvgsgrd sokj tisqkvetjc gj cdsdfsgej eb v`kii fwvsv
Hdjdsgf igjlkhd kjkiwvgv qdvdqrdc beq fkvdv xodqd qkcgehqk}ogfg`khgjh gv -rd
jddc beq cdbgjgsgrd cgkhjevgv fqgsgfki) vtfo kvvfqddjgjh bk`giw `d`adqv beq }esdjsgki lgcjdwcejksgej
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Ow}dqsdjvgej kjc qdjki gjbdfsgej voetic ad sqdksdc khhqdvvgrdiw se`kgjskgj qdjki btjfsgej*
Fejrdqsgjh dj~w`d gjogagseqv kqd dbbdfsgrd kjsgow}dqsdjvgrd khdjsv) ats}sv voetic ad fievdiw `ejgseqdc kv ve`d cdrdie} qdjki gjvtbbgfgdjfw "ow}dqlkid`gk*
Tqgjkqw gjbdfsgej gv sqdksdc gj kv tvtki tjidvv k }wefwvs gv vtv}dfsdc) gjxogfo fkvd kjsgagesgfv soks }djdsqksd fwvsv voetic ad tvdc) vtfo kvsqg`dsoe}qg`-vtibk`dsoek~eid) fg}qebiekfgj) kjc foieqk`}odjgfei*
Foqejgf }kgj bqe` fwvsv fkj ad `kjkhdc aw fwvs }tjfstqd kjc vfidqevgvxgso dsokjei*ik}kqevfe}gf fwvs qd`erki eq jd}odqdfse`w
8/7/2019 Autosomal Dominant/Recessive Polycystic Kidney Disease
2/2
1 y j t q t i o k ` g ~ k o k ` q k j = ? ; 6
Ktseve`ki Qdfdvvgrd ]eiwfwvsgf Lgcjdw Cgvdkvd Foqe` 2 Ks agqso sod lgcjdwv kqd djikqhdc xgso k v`eeso dsdqjki vtqbkfd* Sod cgvski statidv kjc feiidfsgjh ctfsv kqd cgiksdc gjse diejhksdc fwvsv
soks kqd kqqkjhdc gj k qkcgki bkvogej*
Kv sod }ksgdjs khdv) sod fwvsv `kw adfe`d `eqd v}odqgfki kjc sodcgvdkvd fkj ad fejbtvdc xgso KC]LC*
Gjsdqvsgsgki bgaqevgv gv kive vddj kv qdjki btjfsgej cdsdqgeqksdv* Igrdqgjreird`djs gjfitcdv }qeigbdqksgej kjc cgiksgej eb gjsqkod}ksgf agid ctfsvkv xdii kv }dqg}eqski bgaqevgv*
Figjgfki Bdkstqdv
Sod `kneqgsw eb fkvdv kqd cgkhjevdc gj sod bgqvs wdkq jeb igbd agiksdqki kace`gjki `kvvdv* Cdkso gj sod jdejkski }dqgec gv `evs fe``ejiw c%s }ti`ejkqw
ow}e}ikvgk* Ow}dqsdjvgej g`}kgqdc tqgjkqw fejfdjsqksgjh kagigsw DVQC ats `kjw fogicqdj `kgjskgj kcd{tksd lgcjdw b beq wdkqv* Eicdq fogicqdj }qdvdjs xgso fe`}igfksgejv vdfejckqw se fejhdjgski
od}ksgf bgaqevgv kjc hdjdqkiiw okrd idvv vdrdqd lgcjdw cgvdkvd*
F e KQ]LCOd}ksev}idje`dhkiw)}eqski ow}dqsdjvgej)dve}okhdkirkqgfdv*
Cgkhjevgv
Tisqkvetjc
}qdjkskiiw kjc gj fogicoeec* Qdrdkiv djikqhdc lgcjdwv xgso gjfqdkvdc dfoehdjgfgsw* * K soeqetho bk`giw ogvseqw kjc g`khgjh sod lgcjdwv eb sod }kqdjsv kgcv gj
cgbbdqdjsgksgej bqe` esodq fwvsgf cgvdkvdv*
Od}ksgf bgaqevgv vddj ej g`khgjh vstcgdv gj kvvefgksgej xgso fwvsgflgcjdwv vt}}eqsv sod cgkhjevgv eb KQ]LC*
Sx
@kneq hekiv Khhqdvvgrd sqdks`djs eb ow}dqsdjvgej kjc tqgjkqw sqkfs gjbdfsgej`kgjskgj jksgrd qdjki btjfsgejLgcjdw bkgitqdCgkiwvgv kjc sqkjv}ikjs kqd k}}qe}qgksd*Od}ksgf bgaqevgv `kw idkc se igbd-soqdksdjgjh rkqgfdki od`eqqokhd) qd{tgqgjhvfidqesodqk}w eq }eqsevwvsd`gf votjsv