7/23/2019 Trptico Enfermedades Congenitas y Hereditarias1

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JD @K CJ ^VDGDHOE @K CJ OE@[XPVOJ VKX

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Cuz Gkry ^rkz Pujejgj

VKJ= HOKEHOJ, PKHEDCDLJ _JGFOKEPK

@DHKEPK= CJVH_ JVOJB[JHBKHBJEPJ

OK E >>2>0 - YJCCK CJ HDEZ[OXPJ

6 :0

RR_= Xk gjeoiokstj ke cj pufkrtj` pdr ue jlrje-

`jgoketd `k hj`krjs y ke rksugke kc bdgfrk sk ke-

huketrj hde ue hukrpd hde skgkmjezjs jc `k cj gumkr.

Xukcke skr jlrksovds.

R__= Xde jctds, je tosdhojcks y guy jlrksovds.

G[MKV

RRR= Xukcke skr dfksjs, hde uej gkedpjusoj tkg-

prjej, rljeds lkeotjcks oeijeto cks.

R=Lkeotjcks jtrdioj`ds, `k`ds hdrtds y rkhbdehbds.

R irloc=Pjetd gumkr hdgd bdgfrk, sk `j pdr uej

kxhksovj rkpktohoe `k ue `ktkrgoej`d tropcktk.

^jrj kstjs keikrgk`j`ks ed bjy prkvkehoe

pdsofck, pkrd sk puk`k jyu`jr huo`e`dsk ke kc

kgfjrjzd. Je js sk puk`k prk`khor quoe cj

tke`r kstu`oje`d su rfdc lkekjclohd. [ej vkz

quk uej gumkr bj quk`j`d kgfjrjzj`j sk puk-

`k jvkrolujr pdr khdlrjij d jgeodhketksos.

KMKG^CDX HDELKEOPJX

Jekehkijcoj Ketrdpoe

KMKG^CDX BKVK@OPJVOJXJcfoeosgd `jctdeosgd

toe, jc ed dr ed jprke`k j bjfcjr. Cjs hjusjs puk`ke

skr guhbjs1 cjs gs hdrroketks sde cj tdgj `k `rdljs

`urjetk kc kgfjrjzd, d bkgdrrjlojs ke kc pjrtd. @k

td`js idrgjs sk `kfk huo`jr kc d`d jc fkf.

^dco`jhtocoj= hdesostk ke uej gjcidrgjhoe ksqukc-

tohj ke cj quk cj pkrsdej ejhk hde gs `k hoehd `k`ds

yj skj ke poks d gjeds. Cjs hjusjs puk`ke skr rj`oj-

hodeks `urjetk kc kgfjrjzd (rjyds R) d pdr keikrgk`j-

`ks ke cj gj`rk.

@jctdeosgd= Ks guy hdedho`j= Kc sumktd ed `oikrke-

hoj hdcdrks.

Bkgdiocoj= Xk j sdfrk t d`d ke bdgfrks (so sk okrj

ke gumkrks gdrorje). Yokek `j`d pdr kc hrdgdsdgj

R. Cj keikrgk`j` hdesostk ke uej ijctj `k cds kckgke-

tds hdjlucjetks ke cj sjelrk. Js hujcquokr pkqukd

hdrtk sk hdevokrtk ke bkgdrrjloj.

DPVJX JEDGJCJX LKEPOHJX

PVOXDGJX

^JV 6:= Xe`rdgk `k @dwe. Cds setdgjs gs

hdgueks sde kc rdstrd rk`de`kj`d, cjs drkmjs pkqukjs,

rktrjsd gketjc, ckeluj lrje`k, `kiohokehojs hjr`jhjs k

oegueotjrojs.

^JV :2= Xukck gdror jetks `k ejhkr, y so cd bjhk

gukrk j cjs pdhjs skgjejs `k vo`j. Xu setdgj kxtkred

gs `kstjhjfck ks kc tjgjd pkqukd `kc kehijcd.

^JV :8= Xukcke vovor pdhd y sus hjrjhtkrstohjs sde=

hrekd pkqukd, dmds pkqukds, pjcj`jr `ovo`o`d, pdco-

`jhtocoj...

^JV 2= Pjgfoe vovke pdhd y sukcke tkekr jedgj-

cjs hjr`jhjs y skjs.

GDEDXDGJX (cks ijctj ue pk`jzd k hrdgdsd-

gj)

^JV :2= Jedgjcjs skjs, bopdtdgj y rktrjsd

gketjc.

KEIKVGK@J@KX VKCJHODEJ@JX HDE KC

XKRD

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7/23/2019 Trptico Enfermedades Congenitas y Hereditarias1

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Keikrgk`j`ks Hdel-

eotjs y Bkrk`otjrojsKEIKVGK@J@KX HDELEOPJX

Cjs keikrgk`j`ks hdeleotjs sde jqukccjs kfo-

`js j ue `kikhtd prksketk `ks`k kc gdgketd `kc

ejhogoketd, quk iuk j`quoro`d urjetk cj ktjpjlkstjhodejc. Kc drolke k cjs keikrgk`j`ks hdel-

eotjs puk`k skr lketohd d jgfoketjc, yj skj `k

topd isohd, qugohd d oeikhhodsd.Hjusjs k cjs keikrgk`j`ks hdeleotjs=

Ketrk kc 9>-% `k cds hjsds `k keikrgk`j`kshdeleotjs tokeke hjusjs `kshdedho`js, cds rks-tjetks sk `kfke j ijhtdrks lketohds d jgfoketj-cks.Fjstj hde ue eohd lke jedrgjc pjrj hjusjr ue`kikhtd hdeleotd.Cj trjesgosoe `k ue lke jedrgjc pdr pjrtk `k ued

`k cds pj`rks puk`k `jr drolke j keikrgk`j`kslketohjs, sk trjtj `k ue lke `dgoejetk, y puk`kdroloejr keikrgk`j`ks hdgd= jhde`rdpcjsoj (uejidrgj k kejeosgd), se`rdgk k Gjrije(keikrgk`j` kc tkmo`d hdemuetovd).Dtrjskeikrgk`j`ks hdeleotjsscd sk bkrk`je sojgfds pj`rks sde pdrtj`drks `kc gosgd lke jedr-gjc y cd trjesgotke jc eod (bkrkehoj rkhksovj),hdgd cj keikrgk`j` `k Pjy-Xjhbs (trjstdred qukjikhtj proehopjcgketk j pkrsdejs k drolke mu`johdkurdpkd), cj iofrdsos qusothj (trjstdred `k cds puc-gdeks y dtrds rljeds, quk jikhtj sdfrk td`d jpkrsdejs hjuhsohjs).Cjs hjusjs jgfoketjcks puk`ke skr kc jfusd `k`rdljs (jchdbdc, hdhjej, kth), cjs oeikhhodeks, cjkxpdsohoe j gk`ohjgketds u dtrds prd`uhtds qu-gohds.^VOEHO^JCKX GJCIDVGJHODEKX HDELEOPJX

Kxostke guctotu` k topds k gjcidrgjhodeks hde-leotjs quk puk`ke jikhtjr j hujcquokr pjrtk `k cjjejtdgj bugjej. J hdetoeujhoe sk hotje cjs gsogpdrtjetks y hjrjhtkrstohjs=

Gjcidrgjhodeks hdeleotjs `kc sostkgj

ekrvodsd, Kmkgpcd= Jekehkijcoj y kehkijcdhkck

Gjcidrgjhodeks hdeleotjs kc dmd, `kcd`d, `k cj hjrj y kc hukccd. Kmkgpcd= Ketrdpoe yketrdpoe hdeleotds, Gohrd y gjhrditjcgojs, Hj-tjrjtj hdeleotj, kth.

Gjcidrgjhodeks hdeleotjs kc sostkgjhorhucjtdrod, Kmkgpcd= Prjespdsohoe k cds lrje-

`ks vjsds, Pktrjcdlj k Ijccdt, kth.

Gjcidrgjhodeks hdeleotjs kc sostkgjrksporjtdrod, Kmkgpcd= Jtrksoj k hdjejs, Cjroeld-gjcjhoj hdeleotj, kth.

Iosurj `kc pjcj`jr y cjfod ckpdroed. Dtrjs gjcidrgjhodeks hdeleotjs `kcsostkgj olkstovd, Kmkgpcd= Gjhrdlcdsoj, Jtrksoj`k ksijld, Bkreoj k bojtd hdeleotj, @ovkrthu-cd `k Gkhakc, kth.

Gjcidrgjhodeks hdeleotjs k cds rlj-eds lkeotjcks. Kmkgpcd= Juskehoj, quostk d tdrsoe

`k dvjrod, tkrd ueohdrek y fohdrek, Pksthucd ed`kshke`o`d, Kth.

Gjcidrgjhodeks hdeleotjs kc sostkgjuroejrod. Kmkgpcd= Jlkeksoj rkejc y Xe`rdgk k^dttkr, Keikrgk`j` qustohj kc roe, @ovkrthucdhdeleotd `k cj vkmolj, kth.

Gjcidrgjhodeks y `kidrgo`j`ks hdel-eotjs kc sostkgj Dstkdgushucjr, Kmkgpcd= Cuxj-hoe hdeleotj `k cj hj`krj, ^ok pcjed hdeleotd,^ok hjvus, @dcohdhkijcoj, cjlodhkijcoj, Kshdcodsoshdeleotj, Xe`rdgk k Kbckrs@jecds, Bopkrtk-cdrosgd, kth.

KEIKVGK@J@KX BKVK@OPJ-VOJX XOEPDGJX _ HJ[XJX

Cjs keikrgk`j`ks bkrk`otjrojs d tjgfoe ccjgj-

`js jedgjcjs lketohjs sde jqukccjs keikrgk-

`j`ks prd`uho`js pdr cj trjesgosoe bkrk`otjroj

`k lkeks, `dgoejetks d rkhksovds, jcluejs sk

gjeoiokstje yj `ks`k kc ejhogoketd `kc eod, pkrd

dtrjs sk vje `ksjrrdccje`d j cd cjrld `k cj oeije-

hoj d cj k`j` j`uctj.

Jekgoj ijchoidrgk= Xk prd`uhk pdr uej fjmj hde-

hketrjhoe `k bkgdlcdfoej, kstd tokek hdgd hdesk-

hukehoj kc tkekr pdhds lcfucds rdmds y pdr cd tjetd uej

gkedr hdehketrjhoe `k dxlked. Xo cj jekgoj ks bkrk-

`otjroj cj hjusj ks kc hjgfod `k cds jgoedho`ds vjcoej

pdr ho`d lcutgohd. Kstd ck `j j cds krotrdhotds ue

jspkhtd kxtrjd quk ed sorvk pjrj su iuehoe. Ks guy

lrjvk y puk`k hjusjr jedgjcjs ke kc blj`d, kc jpjrj-

td rksporjtdrod y hklukrj.

Guhdvoshocdsos= Yokek `j`j pdr ue lke rkhksovd. Xk

trjtj `k uej jedgjcj pdr cj quk cjs skhrkhodeks edr-

gjcks `kc hukrpd sk jctkrje bjhoe`dsk voshdsjs. ^uk`k

prd`uhor tds, ljstrdketkroto s, kstkroco`j` ke bdgfrks y

pdhj ikrtoco`j` ke gumkrks.

Buetoeltde, Hdrkj k= Keikrgk`j` fjstjetk rjrj

hjrjhtkrozj`j pdr cj jpjrohoe `k gdvogoketds kspjs-

g`ohds, rktrjsd gketjc y hjso sokgprk hjusj cj gukr-

tk. Kstj keikrgk`j` ks cj pdpucjrgketk hdedho`j hdgd

fjock `k Xje Yotd y huje`d sk hdevokrtk ke hreohj

sk ck ccjgj Hdrkj `k Buetoeltde.

Ljcjhtdskgoj= Xk trjtj `k uej jhugucjhoe `k lj-

cjhtdsj prdvdhje`d hjtjrjtjs, horrdsos bkptohj, rktrjsd

gketjc, jekgoj...

Jcfoeosgd= Yokek `j`d pdr ue lke rkhksovd1 sk `kfk

j cj ijctj `k gkcjeoej. Hdgd hdeskhukehoj `k kstj ijctj

tjetd kc pkcd y cds dmds hdgd td`j cj pokc y kstd bjhk

hdrrkr lrjvks rokslds `k hdetrjkr hehkrks `k pokc y

hklukrj.

@ojfktks gkccotus= Ed sk ijfrohj oesucoej pdr cd quk

cj hdehketrjhoe `k lcuhdsj ke cj sjelrk sufk, prdvd-

hje`d hklukrj, jedgjcjs rkejcks y pdsofcks pjrcosos.

Cds setdgjs gs hdgueks sde sk`, hjesjehod y pr`o-

`j `k pksd ketrk dtrjs.

Xdr`dgu`kz= Ke huketd j cj sdr`krj ks bkrk`otjroj,

pkrd cj gu`kz vokek `j` pdrquk cj pkrsdej, ke huks-

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