Potter syndrome: izimbangela, izimpawu, uphethwe

Potter syndrome ibizwa ngokuthi inkinga engathí sina umbungu. Kwebalingisi siqale incazelo yalokhu anomaly.

Kuyini Potter Syndrome?

Potter Syndrome - isici azalwa naso we-fetus, lapho izinso lingekho ngokuphelele, okuyinto umphumela ukunciphisa ivolumu ye-amniotic fluid.

Waba yini umphumela wesibindi nokuntuleka kwamanzi kuyinto kokucindezelwa umbungu esibelethweni. Izingane zabona emaphashini kahle athuthukile, ejwayelekile ubuso ukushwabana ugebhezi nokuqumbeleneyo, nemilenze sikhubazekile.

Ngo-1964 godu Potter adalule isici ukuthuthukiswa besihambisana nesiminyaminya agenesis (yokuntuleka) kokubili izinso fetus noma aplasia (ukungabi khona noma yiluphi uhlaka noma izingxenye zomzimba), kuhlanganiswe kahle kwezinso ebusweni. Lesi sifo ubizwa ku izincwadi zezokwelapha ezisekelwe ekwazisweni kanye syndrome Potter nge agenesis kwezinso 2, kwezinso-ebusweni Grosse syndrome, ebusweni dysplasia kwezinso.

Potter Syndrome ku-fetus: Izimbangela

I aetiology (imvelaphi) sifo akukaqondwa ngokugcwele. Ngo-50% amacala kwatholakala ukuthi angahlangani eyinhloko kubonakala ngenxa yokuntula amniotic fluid (amanzi fetus) e owesifazane okhulelwe. Kokucindezela kwesibeletho fetus kuholela ukuthuthukiswa anomalies kwezinso nazo (aba kanye aba), inhliziyo, rectal, zangasese, iphaphu (hypoplasia), emikhawulweni (kokukhubazeka).

Potter syndrome kwenzeka izinsana, izingane ezingaphansi kweminyaka engu-izinyanga ezimbalwa, okungenani - e izingane ezindala konyaka owodwa, futhi isikhathi esiningi abafana. Kuvamisile yokuphambana :. 1 kuya kwezingu-50 ukubeletha.

Inhlolo-vo eyenziwa abazali

Yini izimpawu sifo kuhambisana Potter ku-fetus? Elikhulu izinso emhlophe - yilokhu kungabonwa ultrasound. Lokhu agenesis kungaba ifa iba (ufuzo omunye umzali angeke yokulicindezela), okusho ukuthi akuhlobene lemali ye-amniotic fluid. Omunye abazali kungase kube nokungathuthuki noma ukungabi khona omunye izinso, okungase Okunye okubalulekile nokuhlolwa odokotela ngaphambili.

agenesis kwezinso luthathwe iba, okusho ukuthi kukhona 50% amathuba lokuzalwa umbungu, okuyinto sizoba Potter syndrome.

Potter syndrome ne-75 amaphesenti Amathuba kungenzeka ingane lapho abazali bakhe bathola kuguquka ku PKHD1 zofuzo. Bona senziwe 1 ngo-50 abantu isilinganiso. Lezi ukuguquka kwezakhi zofuzo akuvezi ukuthuthukiswa ngokushesha yokuphambana phambili ekukhulumeni kwabezindaba, bangakwazi amashumi eminyaka badlula ezizukulwaneni ngezizukulwane.

Ingozi ukuzalwa komntwana sifo engaveza Potter ifa yokwanda koshintsho kusuka bobabili abazali. Uma izinguquko umbungu zofuzo ezizophasiswa kuphela uyise noma unina, enethuba 50 amaphesenti ukuthi ozozalwa enempilo. U-25% izingane musa ifa PKHD1 kuguquka kusuka bobabili abazali, kufanele noma yiziphi izinguquko ezakhini zofuzo.

syndrome symptomatology

Potter Syndrome e ukuhlahlwa umbungu lembula izinto ezilandelayo ezibonisa:

• emincane kakhulu ekhulwini izikhala;
• isici furrow ngaphansi umugqa kwekhulu;
• hypoplasia mandibular (mikrognatsiya);
• ekhaleni flat;
• ibanga nesibalo esikhulu phakathi kwezitho abhanqiwe (ezifana amehlo) - hypertelorism;
• epicanthus ayizindunduma ( "nesibaya-Mongolian") - esibayeni ekhethekile ekhoneni engaphakathi iso, esehlanganise tubercle lacrimal;
• ukuma okungavamile izindlebe elithambile ezinkulu.

Ukubulala amagciwane

Lapho ingane izalwe uphawu main - ukucindezeleka okunzima zokuphefumula, esizibonakalisa ne imizuzu yokuqala ukuphila ezimele. Ukuqhuba ukupholisa pneumothorax nzima (air Bubbles endaweni pleural athiya ukukhanya ukunyakaza Rhythmic).

Ngeshwa, iningi labantu izinsana ukuthi nginesifo Potter Syndrome afe amahora ambalwa emva kokuzalwa. Lapho amafomu alula kakhulu eziphathelene digestivnogo (wokugaya ukudla) ipheshana - cloaca urogenital (enkompolo we imbobo anal kanye urogenital kwelinye), akukho perforation we ingquza (ukubhaliswa efanele) - isetshenziswa ukuhlinzwa.

Ukuphumelela ingane syndrome Potter

Ngo-2013, kubika abezindaba ku intombazane esanda kwenziwa-Abhigayili Butler, indodakazi ilungu iNdlu United States House of Abamele, Republican Congresswoman Jaime Herrera Beutler. Ingane wakwazi ukusinda nale syndrome evimbela ukusebenza evamile umgudu wokuphefumula.

Ngesikhathi ngenyanga 5th zokukhulelwa, ezwa ukuthi intombazane akusho ukugqama noma omchamo ukuze ukungabi oluphelele nezinso. Isizathu kusweleke amniotic fluid endaweni abakhulelwe Jaime Herrera Beutler. Naphezu isiphelo sesimiso odokotela limenyezelwe Kulokhu ebulalayo, lona wesifazane nomyeni wakhe wanquma ukuqhubeka ukukhulelwa. Ukuze nxephezela esincane amniotic fluid esibelethweni Jaime iqondiswa nosawoti ekhethekile. John Hopkins - udokotela owenza indlela yokwelapha, ayikwazanga ngokuphelele isiqinisekiso abashadayo, ukuthi ukwelashwa kuzoholela yalokho egculisayo.

Kodwa ngo-July 15, 2013 Little Abhigayili ziphila. izinkumbulo lomama, intombazane anikhalanga ngesikhathi sokuzalwa, kodwa emva kwesikhashana waqala ukukhala - emaphashini ingane usebenze. Ngemva kokuzalwa, wayekhula ngamandla ngokushesha idluliselwe zelashwe - uhlelo esikhundleni ngokugcwele izinso umsebenzi ubonisa imikhiqizo umzimba emzimbeni. Ngemva konyaka, yena esikhundleni inso abanikelayo.

Ithuba ukuzalwa bukhoma ingane syndrome Potter nokuhlunyeleliswa kwakhe okwalandela uphumelele nemibandela namaqiniso okuphila kwanamuhla namanje kubhekwa isimangaliso. Ngakho-ke, odokotela singaphoqi ukukhipha isisu uphethwe umbungu isici onjalo. Isibonelo Abhigayili Butler bengayi okukhuthazayo, kodwa kubalulekile ukuba uqonde ukuthi lokhu awufani neminye.