Potter syndrome: ua, cov tsos mob, mob

Potter syndrome no yog hu ua ib tug loj defect ntawm lub fetus. Characterization pib nrog lub ntsiab txhais ntawm no anomaly.

Yuav ua li cas yog Potter Syndrome?

Potter lub syndrome - ib tug congenital defect ntawm lub fetus, nyob rau hauv uas nws tsis tuaj kiag li ob lub raum, uas yog lub txim ntawm kev txo qhov ntim ntawm amniotic kua.

Cov tshwm sim ntawm cov dej scarcity yog ib tug compression ntawm lub fetus nyob rau hauv lub tsev menyuam. Cov me nyuam kuj cai tsis zoo tsim ntsws, raug ntsws ntsws ntsej muag thiab strangled pob txha taub hau, deformed nqua.

Nyob rau hauv 1964 godu Potter qhia ib txoj kev loj hlob kev kho raws tau yus agenesis (tsis muaj) ob me nyuam hauv plab raum los yog aplasia (tsis tuaj kawm ntawv ntawm tej khoom hauv nrog cev los yog lub cev qhov chaw), ua ke nrog lub ntsej muag txawv txav. Qhov no syndrome yog xa mus rau hauv cov kev kho mob cov ntaub ntawv raws li tau zoo raws li syndrome Potter nrog raum agenesis 2, raum-lub ntsej muag Grosse syndrome, ntsej muag raum dysplasia.

Potter lub syndrome nyob rau hauv lub fetus: Ua

Lub aetiology (keeb kwm) syndrome yog tseem tsis to taub. Nyob rau hauv 50% ntawm cov neeg nws twb pom hais tias cov thawj abnormality yog manifested vim ib tug tsis ntawm amniotic kua (me nyuam hauv plab dej) nyob rau hauv ib tug cev xeeb tub poj niam. Compression ntawm lub me nyuam hauv plab lub tsev me nyuam ua rau yus txoj kev loj hlob ntawm lub raum anomalies fim (flattening thiab cov flattening), lub plawv, lub qhov quav, qhov chaw mos, mob ntsws (hypoplasia), extremities (clubfoot).

Potter syndrome tshwm sim nyob rau hauv cov me nyuam mos, cov me nyuam nyob rau hauv lub hnub nyoog ntawm ib tug ob peb lub hlis, yam tsawg kawg - nyob rau hauv cov me nyuam laus tshaj ib xyoo, thiab ntau ntau nyob rau hauv cov tub hluas. Cov xwm txheej ntawm cov kho raws :. 1 mus rau 50 txhiab yug.

Ib tug daim ntawv ntsuam xyuas ntawm cov niam txiv

Yuav ua li cas yog cov tsos mob ntawm tus syndrome yog nrog los ntawm Potter nyob rau hauv lub fetus? Loj dawb raum - qhov no yog dab tsi yuav pom nyob rau ultrasound. Qhov no agenesis yuav ua tau dominantly inherit (caj ntawm tus niam txiv tsis tau suppress nws), piv txwv li tsis muaj feem xyuam rau tus nqi ntawm amniotic kua. Ib tug ntawm cov niam txiv tej zaum yuav underdevelopment los yog tsis tuaj kawm ntawv ntawm ib qho ntawm ob lub raum, uas yuav tau overlooked nyob rau hauv kev kho mob kuaj ua ntej lawm.

Raum agenesis yog pub dominantly, uas txhais tau hais tias yog ib tug 50% ntau ntawm yug me nyuam ntawm cov me nyuam hauv plab, uas yuav tsum tau cai Potter syndrome.

Potter syndrome nrog 75 feem pua muaj tseeb tej zaum yuav tshwm sim nyob rau hauv ib tug me nyuam thaum nws niam nws txiv pom ib tug hloov nyob rau hauv lub noob PKHD1. Lawv tshwm sim nyob rau nruab nrab 1 nyob rau hauv 50 cov neeg. Cov change tsis ua rau ceev ceev txoj kev loj hlob ntawm lub defect nyob rau hauv cov xov xwm, lawv yuav rau xyoo dhau los ntawm tiam mus rau tiam.

Cov kev pheej hmoo ntawm kev yug me nyuam ntawm ib tug me nyuam nrog cov syndrome yuav manifest Potter qub txeeg qub teg ntawm change los ntawm ob niam txiv. Yog hais tias lub fetus genetic hloov yuav tsum dhau xwb leej txiv los yog leej niam, nrog ib tug 50 feem pua nws yuav tsum yug los noj qab nyob zoo. 25% ntawm cov me nyuam tsis tau txais PKHD1 hloov los ntawm ob niam txiv, muaj tej kev hloov nyob rau hauv lub caj theem.

syndrome symptomatology

Potter lub syndrome nyob rau hauv lub fetus diagnostics qhia cov nram qab no ces:

• tsis tshua muaj neeg nqaim kis xyoo pua;
• yam ntxwv furrow nyob rau hauv txoj kab ntawm lub xyoo pua;
• mandibular hypoplasia (mikrognatsiya);
• tiaj qhov ntswg;
• abnormally loj kev ncua deb ntawm lub paired nrog cev (xws li ob lub qhov muag) - hypertelorism;
• convex epicanthus ( "Mongolian quav") - ib tug tshwj xeeb quav ntawm lub puab ces kaum ntawm lub qhov muag, yuav tsum vov lub lacrimal tubercle;
• txawv txav zoo mos mos loj pob ntseg.

es ho

Thaum ib tug me nyuam yug los rau hauv lub ntsiab tsos mob - mob loj heev ua pa nyuaj siab, uas manifests nws tus kheej nrog rau cov thawj feeb ntawm ib tug neeg sab nraud lub neej. Ua cua nyuab pneumothorax (huab cua bubbles nyob rau hauv lub pleural cheeb tsam uas es lub teeb zoo zog).

Tu siab, lub overwhelming feem ntau ntawm cov me nyuam mos mob Potter lub syndrome tuag ib tug ob peb teev tom qab yug tus me nyuam. Thaum lub sib zog ntaub ntawv hais txog digestivnogo (digestive) huam - urogenital cloaca (lub compound ntawm lub qhov quav thiab urogenital ciav nyob rau hauv ib tug), tsis muaj perforation ntawm lub qhov quav (tseeb sau npe) - yog siv phais.

Tseem muaj sia nyob tus me nyuam syndrome Potter

Nyob rau hauv 2013, rau hauv xov xwm qhia rau ib tug me nyuam mos ntxhais Anpikayi Butler, tus ntxhais ntawm ib tug tswv cuab ntawm lub tsev ntawm lub tebchaws United States lub tsev ntawm Cov Neeg Sawv Cev, Republican Congresswoman Jaime Herrera Beutler. Tus me nyuam muaj peev xwm ciaj sia nrog no syndrome uas txwv tsis pub lub cev tau hauj lwm ntawm lub pa system.

Thaum lub 5 hlis uas cev xeeb tub, cov poj niam kawm tau hais tias tus hluas nkauj tsis sawv tawm los ntawm cov zis rau lub teb tsis tuaj kawm ntawv ntawm ob lub raum. Yog vim li cas yog ib tug tsis txaus amniotic kua nyob rau hauv ib tug cev xeeb tub Jaime Herrera Beutler. Dua li ntawm qhov xaus ntawm cov kws kho mob tshaj tawm hais tias cov ntaub ntawv no tuag, tus poj niam thiab nws tus txiv txiav txim siab mus ntxiv lub cev xeeb tub. Nyob rau hauv kev txiav txim kom them nyiaj rau ib tug me me npaum li cas ntawm amniotic kua nyob rau hauv lub tsev me nyuam Jaime muab tshwj xeeb saline. John Hopkins - tus kws kho mob uas tau ua qhov kev kho, yuav tsis kiag li lees tias tus txij nkawm, uas kho mob yuav ua rau ib tug fee tshwm sim.

Tab sis lub Xya hli ntuj 15, 2013 Me Anpikayi tau yug los ciaj sia. Niam puas, tus hluas nkauj tsis quaj thaum yug los, tab sis tom qab ib tug thaum pib quaj - tus me nyuam lub ntsws ua tau hauj lwm. Tom qab tus me nyuam yug, nws tau tam sim ntawd pauv mus rau kev lim ntshav - ib tug system uas tag xyoo raum muaj nuj nqi uas qhia txog cov khoom ntawm metabolism los ntawm lub cev. Ib xyoo tom qab, nws yog hloov los ntawm ib tug neeg lub raum.

A lub caij nyoog rau cov me nyuam yug ntawm ib tug nyob baby syndrome Potter thiab nws tom ntej kev vam meej ncaj ncees nyob rau hauv lub tej yam kev mob ntawm niaj hnub tseeb yog tseem xam tau tias yog ib tug txuj ci tseem ceeb. Yog li ntawd, cov kws kho mob hais rau ib tug rho menyuam nyob rau hauv qhov mob ntawm lub fetus xws li ib tug kho raws. Piv txwv li Anpikayi Butler tsis tau luaj twg, tab sis nws yog tsim nyog los nkag siab hais tias qhov no yog ib qho exceptional case.