UMbumbi syndrome: oonobangela, iimpawu, isifo

UMbumbi syndrome kuthiwa isiphako esikhulu yosana olungekazalwa. Abalinganiswa aqala kwinkcazelo yale anomaly.

Yintoni zoMbumbi Syndrome?

Yombumbi syndrome - isiphako naso yosana olungekazalwa, apho izintso ndingekhoyo ngokupheleleyo, nto leyo isiphumo yokunciphisa umthamo fluid.

Isiphumo yokunqaba amanzi ucinezelo yosana olungekazalwa esibelekweni. Abantwana saphawula nemiphunga aphuhliswe kakuhle, ubuso eqhelekileyo ukushwabana kunye ukakayi ekrwitshiweyo, amalungu zikhubazekile.

Ngowe-1964 godu Potter uchaza enesiphene yophuhliso waphawulwa agenesis (ukunqongophala) zombini kidney ezingekazalwa okanye aplasia (ukungabikho naliphi na iziko okanye iqumrhu iindawo), zidibene ukungaqheleki ebusweni. Esi sifo luchazwa kwi ncwadi zonyango kwakunye syndrome uMbumbi kunye agenesis kwezintso 2, sezintso-zobuso Grosse syndrome, dysplasia yobuso sezintso.

syndrome wombumbi kwi kwimveku: Oonobangela

Le aetiology (imvelaphi) syndrome nangoku kakuhle ngokupheleleyo. Ngowe-50% amatyala kwafunyaniswa ukuba ezingaqhelekanga lokuqala lubonakala ngenxa yokungabikho ulwelo fluid (amanzi ezingekazalwa) kwindawo yomfazi okhulelweyo. Ucinezelo le isibeleko ezingekazalwa kukhokelela kuphuhliso mgaqweni sezintso ngobuso (flattening kunye flattening), intliziyo, efakwa, kumalungu obuni, lung (hypoplasia), kwiziphelo (kokukhubazeka).

UMbumbi syndrome kwenzeka kwiintsana, abantwana abangaphantsi kweminyaka kwiinyanga ezimbalwa, ubuncinane - kubantwana abadala ngaphezu konyaka omnye, yaye ngokufuthi ngakumbi amakhwenkwe. Iziganeko unesiphako :. nokuzalwa-1 ukuya kuma-50 amawaka.

Uhlolisiso abazali

Zeziphi iimpawu onaso sikhatshwa kumbumbi umbungu? Ezinkulu emhlophe kidney - le nto ke ukubonwa kwi-ultrasound. Le agenesis ingaba ilifa dominantly (ufuzo omnye umzali akanako zokuyifihla), okt engahlobenanga kwimali fluid. Omnye wabazali inokuba wokungaphuhliswa okanye engekho omnye nezintso, nenokuthi Okunye iimviwo zonyango ngaphambili.

agenesis sezintso esizalwa dominantly, okuthetha ukuba kukho i-50% amathuba wokuzalwa ndingekazalwa, nto leyo eza babonwe zoMbumbi syndrome.

UMbumbi syndrome ne-75 ekhulwini linokuba kungenzeka usana xa abazali bakhe kuguquka kwi PKHD1 zofuzo. Bona kwenzeka avareji abantu abali-1 ngo-50. Ezi ukuguquka musa kukhokelela kuphuhliso ngokukhawuleza kule isiphene kumajelo eendaba, baye eminyaka zidluliselwa kwizizukulwana ngezizukulwana.

Umngcipheko yokuzalwa kosana kunye syndrome ngazo uMbumbi ilifa yemfuza evela kubazali bobabini. Ukuba utshintsho genetic olungekazalwa ziya ingapasiswa kuphela uyise okanye unina, kunye nethuba 50 ekhulwini uya kuzalwa esempilweni. 25% yabantwana musa ilifa PKHD1 wezakhi evela kubazali bobabini, naluphi na olunye utshintsho kwinqanaba yemfuza.

syndrome symptomatology

syndrome wombumbi kwi uxilongo ikhombisa utyhila izinto ezilandelayo:

• elimxinwa kakhulu kwekhulu izikhewu;
• umsele uphawu phantsi umgca kwenkulungwane;
• hypoplasia mandibular (mikrognatsiya);
• nesilima;
• umgama esikhulu phakathi kwemibutho bafundelane ngezibini (ezifana amehlo) - hypertelorism;
• epicanthus khaxa ( "kubutha Mongolian") - esibayeni ekhethekileyo kwikona engaphakathi iliso, bagqume tubercle lacrimal;
• imilo engaqhelekanga iindlebe ezithambileyo enkulu.

kwamagciwane

Xa umntwana uzelwe uphawu ephambili - ingxakeko enkulu zemiphunga, esizibonakalisa kunye kwimizuzu yokuqala obomi elizimeleyo. Ndiqhuba komoya pneumothorax nzima (amaqamza kwindawo pleural ethintela intshukumo ukukhanya zesingqisho).

Ngelishwa, uninzi iintsana banesifo owawungowombumbi-zitya syndrome kufa iiyure ezimbalwa emva kokuzalwa. Xa iifom lighter ephathelele digestivnogo (sokugaya) iphecana - cloaca enzala (umchiza we bile ezimpundu kunye enzala omnye), akukho perforation ngezantsi (ubhaliso oluchanekileyo) - kusetyenziswa uqhaqho.

Lokusinda umntwana syndrome uMbumbi

Ngo-2013, amajelo eendaba ingxelo intombazana kuzalwa kuAbhigali Butler, intombi ilungu leNdlu of the United States House of Representatives, Republican Congresswoman Jaime Herrera Beutler. Lo mntwana nako ukusinda nale syndrome ethintela ukusebenza okuqhelekileyo isixokelelwano sokuphefumla.

Xa ngenyanga 5 yokukhulelwa, lo mfazi wafumanisa ukuba le ntombazana akemi kuphuma umchamo yokungabikho epheleleyo kwizintso. Isizathu yaba yokunqongophala ulwelo fluid ngendlela okhulelweyo Jaime Herrera Beutler. Nangona kube sekuphelisweni oogqirha ibhengeze lo mzekelo esibulalayo, lo mfazi nomyeni wakhe bagqiba ukuqhubekeka nokukhulelwa. Ukuze ukubuyekeza imali encinci kolwelo fluid kwi isibeleko Jaime elawulwa saline okhethekileyo. John Hopkins - nogqirha owenze le unyango, ayikwazanga ngokupheleleyo ukuqinisekisa amaqabane, ukuba unyango luza kukhokelela yoko eyanelisayo.

Kodwa July 15, 2013 Little uAbhigali wazalwa ziphila. iinkumbulo umama wakhe, intombazana ingakhalanga ekuzalweni, kodwa ekuhambeni kwexesha waqalisa ukukhala - imiphunga yosana liyasebenza. Emva kokubeleka, wayengonwabanga nangoko wasiwa dialysis - inkqubo uthatha ngokupheleleyo umsebenzi kwezintso ezivakalisa iimveliso ze yokucolwa emzimbeni. Emva konyaka, yena indawo onikela zezintso.

A ithuba ukuzalwa syndrome usana live uMbumbi kunye nokuvuselelwa kwakhe okwalandela nempumelelo iimeko bezinto zokwenene mihla nangoku ingqalelo ummangaliso. Ngoko ke, oogqirha nimane isisu lokufunyaniswa olungekazalwa ezifuna enjalo. Umzekelo uAbhigali Butler akakwazi ekhuthazayo, kodwa kudingeka ukuba uqonde ukuba le awufani.