Ingabe izinso zengane yakho azisebenzi kahle? Masiqaphele lesi sifo sikaPotter Syndrome!

Uma ungumama okhulelwe, cishe ukhathazeka kakhulu ngempilo yengane yakho, akunjalo? Kuvamile ukuzibuza ukuthi ingane yakho ikhula kahle yini esibelethweni nokuthi konke kuhamba kahle yini. Namuhla sizokhuluma ngesimo esingavamile kakhulu esingathinta izingane. Sibizwa ngokuthi i-Potter Syndrome. Ungase ukhathazeke uma uzwa lokhu, kodwa kubaluleke kakhulu ukukuqaphela.

Kalula nje, iyini i-Potter Syndrome?

Kulungile, ake sichaze. I-Potter syndrome, ngezinye izikhathi ebizwa ngokuthi i-Potter sequence , yisimo esingavamile esithinta ukukhula komntwana ngesikhathi esesibelethweni. Imbangela enkulu yalokhu ukuthi izinso zomntwana azikhuli kahle noma ukusebenza kwazo kuyaphazamiseka . Ubuwazi ukuthi uma umntwana esesibelethweni, kunoketshezi oluningi lwe-amniotic oluzungezile. Izinso zidlala indima enkulu ekugcineni inani lalolu ketshezi lwe-amniotic lilawulwa. Ngakho-ke uma izinso zingasebenzi kahle, inani lalolu ketshezi lwe-amniotic liyancipha. Yilokhu odokotela abakubiza ngokuthi i-oligohydramnios.

Ngokudabukisayo, ngezinye izikhathi umntwana uzalwa engenazo zombili izinso, isimo esibizwa ngokuthi "i-Bilateral Renal Agenesis", esingabulala. Kodwa-ke, ezinye izingane zingasinda uma izimpawu zazo zincane noma uma ukulahlekelwa uketshezi kungekubi kakhulu. Kodwa-ke, lezi zingane zingase zibe nezinkinga zamaphaphu nezinso ezingamahlalakhona njengoba zikhula.

Ubani okungenzeka kakhulu ukuthi athinteke yilesi simo?

Empeleni, lesi simo esibizwa ngokuthi i-Potter syndrome singathinta noma yimuphi umntwana. Ngoba sihlobene ngqo nokuntuleka koketshezi lwe-amniotic. Kodwa-ke, ezinye izifundo zithole ukuthi izingane zesilisa zinamathuba amancane okuthola lesi simo .

Ingabe i-Potter syndrome iwufuzo?

Lokhu kuyinkimbinkimbi kancane. I-Potter syndrome akuyona inkinga yofuzo. Kodwa-ke, kunezimo ezithile ezingayibangela. Ake sibheke ukuthi ziyini:

• Isifo sezinso esine-polycystic: Lokhu kungazuzwa kumama noma kubaba (i-autosomal dominant) noma kubo bobabili abazali (i-autosomal recessive). Lokhu kubangela ukwakheka kwama-cyst ezinso.
• Ukwakheka kwezinso: Lokhu ukwehluleka kwezinso ukukhula. Ngezinye izikhathi lokhu kungabangelwa izinguquko ezakhiweni zezakhi zofuzo i-FGF20 noma i-GREB1L. Lesi simo singazuzwa njengefa ngendlela elawulayo noma ephindaphindayo ye-autosomal. Lokhu kusho ukuthi ingane kumele izuze lokhu kuguqulwa kwezakhi zofuzo komunye wabazali noma bobabili.
• Izinguquko zofuzo ezingahleliwe: Ngezinye izikhathi, ushintsho lwezakhi zofuzo olungahleliwe lungabangela i-Potter syndrome, noma ngabe akekho emndenini oke waba nalesi simo ngaphambili.

Sivame kangakanani lesi simo?

I-Potter syndrome iyisimo esingavamile kakhulu . Kulinganiselwa ukuthi lesi simo sithinta ingane eyodwa kuphela kwezingu-4,000 kuya kwezingu-10,000 ezizalwayo. Ngakho-ke ungakhathazeki ngokuzwa ngakho. Kodwa kubalulekile ukuqaphela.

I-Potter syndrome ithinta kanjani umzimba womntwana?

Lokhu kuyinto ebaluleke kakhulu. I-Potter syndrome ithinta indlela izitho zangaphakathi zomntwana, ikakhulukazi izinso, ezikhula futhi zisebenze ngayo . Njengoba wazi, izinso ziyizitho ezibalulekile ezisusa ukungcola kanye noketshezi olwengeziwe emizimbeni yethu. Uma umntwana esesibelethweni, izinso zikhiqiza umchamo. Lo mchamo uphinde usetshenziswe njengoketshezi lwe-amniotic.

Ngakho-ke, uma izinso zomntwana zingasebenzi kahle, ngeke zikhiqize uketshezi lwe-amniotic olwanele ukuze luzungeze. Lolu ketshezi lwe-amniotic yilona oluvikela ingane. Uma lolu ketshezi lulahleka, indlela izitho nomzimba womntwana okhula ngayo iyathinteka. Ngamanye amazwi, izitho azikhuli ngokugcwele . Khona-ke lezo zitho azikwazi ukwenza imisebenzi yazo kahle. Yilokhu okubangela izimpawu ezisongela ukuphila.

Ziyini izimpawu ze-Potter syndrome?

Izimpawu ze-Potter syndrome zingahluka kusuka kusana kuya kosana, futhi ubukhali besimo bungahluka. Lezi zimpawu zingathinta nokukhulelwa kwakho, okungaholela ekuzalweni ngaphambi kwesikhathi .

Ukuntuleka koketshezi lwe-amniotic

Ngesikhathi sokukhulelwa, kuba noketshezi olucacile noluphuzi oluzungeze umntwana. Lolu uketshezi lwe-amniotic. Lokhu kuvikela umntwana futhi kumnike indawo yokukhula. Lusebenza njengesivikelo phakathi kodonga lwesibeletho nomntwana. Izingane ezine-Potter syndrome azinalo olwanele lolu ketshezi lwe-amniotic, ngakho-ke ingcindezi evela odongeni lwesibeletho ithinta indlela umntwana akhula ngayo.

Izici ezikhethekile zobuso nomzimba

Ingcindezi ebangelwa ukuntuleka koketshezi lwe-amniotic ithinta indlela umzimba womntwana okhula ngayo. Lokhu kungabangela izici ezithile zobuso. Lokhu kubizwa ngokuthi "ama-Potter facies" . Lezi zici yilezi:

• Isilevu asikhuli kahle (kubonakala sengathi sijikisiwe).
• Ukuba nemibimbi ngaphansi kodebe olungezansi.
• Amehlo aqhelelene kakhulu.
• Ibhuloho eNaha labhidlika.
• Izindlebe eziphansi kanye nokuqina kwe-cartilage ezindlebeni.
• Isikhumba siyagoqeka emakhoneni amehlo.

Lokhu kucindezela kungathinta nokukhula kwezinye izingxenye zomzimba womntwana. Isibonelo:

• Ukufushane kwezingalo nemilenze.
• Ukungakwazi ukwelula nokuqondisa amalunga kahle, kanye nokuqina (ukugoba).
• Usayizi womntwana mncane uma uqhathaniswa nobudala bokukhulelwa.

Izitho zomzimba ezingakakhuli kahle noma ezingasebenzi kahle

Izimpawu ezithinta izitho zomzimba yizona ezisongela kakhulu impilo.. Ku-Potter syndrome, ukukhula komntwana kuyathinteka, ngakho-ke izitho zangaphakathi azitholi imiyalelo noma isikhathi ezisidingayo ukuze zikhule kahle. Izimpawu ezingase zivele ngenxa yalokho yilezi:

• Izimo zenhliziyo ezizalwa nazo.
• Izifo zamehlo (isib. i-cataracts, i-lens luxation).
• Izifo zezinso (ukwehluleka kwezinso okungapheli, ukuzalwa kwezinso, isifo sezinso se-polycystic).
• Izifo zamaphaphu (isifo samaphaphu esingamahlalakhona, ukucindezeleka kokuphefumula).

Ukukhula kwezinso okungavamile kuthinta nenani lomchamo ingane esanda kuzalwa engawukhiqiza. Lokhu futhi kuyisibonakaliso odokotela abasibhekayo lapho bexilonga i-Potter syndrome.

Yiziphi izimbangela ze-Potter syndrome?

Kunezici eziningana ezingabangela i-Potter syndrome. Lezi yizi:

• Izinso ezingakhuli kahle noma ezingenazo izinso.
• Isifo sezinso se-polycystic.
• I-Prune belly syndrome (i-Prune belly syndrome / i-Eagle-Barrett syndrome)
• Ukuvaleka kwendlela yomchamo.
• Ukuvuza koketshezi lwe-amniotic ngenxa yokuqhekeka kolwelwesi.
• Izimo zezokwelapha ezingalawuleki kumama, isibonelo, isifo sikashukela sohlobo 1.

Lezi zimpawu, ikakhulukazi lezo ezithinta izinso, zenzeka ngoba akukho uketshezi lwe-amniotic olwanele esibelethweni ukuze luzungeze umntwana .

Kungani lolu ketshezi lwe-amniotic luncipha?

Ake sibheke lokhu ngemininingwane ethe xaxa. Imbangela eyinhloko ukukhula okungavamile kwezinso .

Ubuwazi ukuthi ngesikhathi sokukhulelwa, ingane yakho intanta oketshezini olucacile noluphuzi olubizwa ngokuthi i-amniotic fluid. Lolu ketshezi luvikela ingane yakho futhi luyisize ikhule phakathi nokukhulelwa kwakho? Ekuqaleni kokukhulelwa kwakho, lolu ketshezi lwe-amniotic lwakhiwe ngamanzi nezakhamzimba ezivela emzimbeni wakho. Ingane yakho iphuza lolu ketshezi lwe-amniotic. Phakathi kwamasonto angu-16 no-20, ingane yakho iqala ukufaka isandla kulolu ketshezi lwe-amniotic. Wazi kanjani? Ngokuchama! Ingane yakho iphuza lolu ketshezi bese ilukhipha njengomchamo. Lokhu kwenzeka ngomjikelezo.

Ngakho-ke, uma ingane yakho ine-Potter syndrome, izitho zayo zokwenza umchamo, okuyizinso, azikhuli kahle, noma azikho, noma azisebenzi. Ngenxa yokuthi ingane ayikwazi ukuchama, ayikwazi ukufaka isandla enanini le-amniotic fluid eliyivikelayo. Yingakho kunoketshezi lwe-amniotic oluncane esibelethweni.

Ingabe kunezinhlobo ezahlukene ze-Potter syndrome?

Yebo, odokotela bahlukanisa izinhlobo ezahlukene ze-Potter syndrome, kuye ngezimpawu ezithinta izinso.

• I-Classic Potter syndrome: Lolu uhlobo oluvame kakhulu. Luvela lapho umntwana ezalwa engenazo zombili izinso.
• I-Potter syndrome uhlobo I:Lolu hlobo lwesimo lubangelwa yisimo esibizwa ngokuthi isifo sezinso se-polycystic, esizuzwe njengefa kubazali bobabili futhi siyisimo sokuwohloka kwe-autosomal. Kulesi simo, ama-cyst akheka ezinso.
• I-Potter syndrome uhlobo lwesibili: Lolu hlobo lwe-syndrome lubangelwa ukungalingani ekukhuleni kwezinso okwenzeka esibelethweni ngesikhathi sokukhulelwa.
• Isifo sikaPotter uhlobo lwesithathu: Lokhu kubangelwa nesifo sezinso se-polycystic, njengohlobo I. Kodwa-ke, sizuzwe njengomzali oyedwa kuphela (i-Autosomal dominant).
• I-Potter syndrome uhlobo lwesine: Lolu hlobo lwe-syndrome lubangelwa ukuvaleka kwendlela yomchamo (i-obstructive uropathy) ngenxa yokukhula okungavamile komntwana esibelethweni.

I-Potter syndrome itholakala kanjani?

I-Potter syndrome ingatholakala ngesikhathi sokukhulelwa ngokuhlolwa kokukhulelwa . Esinye isibonakaliso sokuthi ungase ube nalesi simo ngesikhathi sokukhulelwa ukuntuleka koketshezi lwe-amniotic oluzungeze ingane. Udokotela wakho uzolubheka ngesikhathi sokuhlolwa kwe-ultrasound. Bazophinde babheke izimpawu zomzimba njengokuqina kwamalunga (ukugoqana).

Uma lokhu kungatholakali ngaphambi kokuba umntwana azalwe, udokotela uzokwenza ukuhlolwa ngokomzimba ngemva kokuba umntwana ezelwe ukuze ahlole izimpawu. Lezi zimpawu zifaka:

• Ukukhishwa komchamo okuphansi kakhulu.
• Ukuba nezici ezithile zobuso.
• Ubunzima bokuphefumula.

Yiziphi izivivinyo ezenziwayo ukuqinisekisa lokhu?

Udokotela angenza izivivinyo eziningana ukuqinisekisa ukuxilongwa:

• Ukuhlolwa kwegazi lofuzo ukuze kutholakale ukuthi i-gene iyimbangela yezimpawu.
• Hlola amaphaphu engane yakho, izinso, kanye nomgudu womchamo ngokusebenzisa izivivinyo zezithombe ezifana ne -X-ray, i-MRI, noma i-ultrasound .
• Ukuhlolwa kwegazi noma komchamo ukuhlola amazinga e-electrolyte nama-enzyme.
• Ukuhlolwa kwe-echocardiogram ukuhlola izimpawu zesifo senhliziyo.

Yiziphi izindlela zokwelapha lokhu?

Ukwelashwa kwe-Potter syndrome kuncike ebunzimeni bezinkinga zamaphaphu nezenhliziyo (i-pulmonary hypoplasia) ezithinta ingane yakho, kanye nezinketho ezitholakalayo zokusekela ukusebenza kwezinso zengane yakho.

Cabanga ngakho, ingane yakho ekhulayo idinga ukuzungezwa uketshezi lwe-amniotic phakathi nokukhulelwa ukuze ikhule kahle amaphaphu ayo. Uma isifuba somntwana sigcwele isikhathi eside kakhulu, singase silahlekelwe izicubu zamaphaphu ezanele ukuze siphile ngemva kokuzalwa.

Ukwelapha usana olunezinkinga zezinso ngokuphelele kuyinselele enkulu. Kwezinye izimo, ukungenelela kokunakekelwa okujulile kunqunyelwe futhi kusetshenziswa ukunakekelwa kokunciphisa ubuhlungu kwezinsana ezisanda kuzalwa , okuvumela umntwana nabazali ukuba bahlale ndawonye futhi banikeze induduzo kumntwana.Ukwelashwa ngendlela ehlelekile kungaba yindlela yokukhetha.

Uma ingane yakho isinda ngemva kokuzalwa, ukwelashwa kuzogxila kakhulu ekuvimbeleni izimpawu ezisongela ukuphila. Lokhu kwelashwa kungafaka:

• Ukusetshenziswa kwemishini yokusekela ukuphefumula (isb. i-ventilator ).
• Imithi esekelayo esiza ukusebenza kwamaphaphu.
• Ukuhlinzwa ukuze kulungiswe noma kususwe ukuvaleka kwendlela yomchamo.
• Ukuhlinzwa ukuze kuthuthukiswe ukondliwa nge-IV nutrition therapy, i-nasogastric tube, noma i-feeding tube.
• I-Dialysis iyindlela yokwelapha ukususa ubuthi obuqongeleleka egazini ngenxa yokungasebenzi kahle kwezinso. Uma ukwelashwa nge-dialysis kungaphumeleli ngemva kweminyaka eminingana, udokotela angase ancome ukufakelwa izinso .

Kuye ngokuthi ingane yakho itholakale nini, ukwelashwa kungase kuqale ngesikhathi sokukhulelwa. Ungase ufanelekele nokwelashwa okuphenywayo, njenge- amnioinfusion, enezela uketshezi emgodini wakho we-amniotic ukuze kuthathelwe indawo uketshezi oluzungeze ingane yakho. Lokhu kwelashwa kusebenza kangcono ngaphambi kwamasonto angu-22 okukhulelwa.

Ingabe i-Potter syndrome ingavinjelwa?

Ngeshwa, ayikho indlela yokuvimbela i-Potter syndrome .

Yini okufanele ngiyilindele uma ingane yami ine-Potter syndrome?

Akukho ukwelashwa kwe-Potter syndrome. Ezimweni eziningi, uma lesi simo sitholakala kusenesikhathi ngesikhathi sokukhulelwa, udokotela wakho angahlela ukubeletha okuphephile futhi anikeze ukwelashwa ukusiza ingane yakho iphile ngemva kokuzalwa.

Izimpawu ze-Potter syndrome zisongela impilo. Kodwa-ke, ngaphandle kokuthi amaphaphu nezinso zengane yakho zithinteke kakhulu, ingane yakho ingase ibe nesibalo esingcono kancane.

Ngenxa yokuthi ukwelashwa kuqala ngokushesha ngemva kokuzalwa, akuzona zonke izindlela zokwelapha eziphumelelayo. Kungase kudingeke bahlinzwe kaningi besebancane.

Iyini isikhathi sokuphila kwengane ene-Potter syndrome?

Izinsana ezitholakale zine-Potter syndrome zingaba nesikhathi sokuphila esifushane kakhulu . Lokhu kuhlukile kuwo wonke umuntu, futhi kuncike ezimpawini. Uma izimpawu zinzima, futhi uma ukuthuthukiswa nokusebenza kwezitho ezinkulu njengenhliziyo, amaphaphu, nezinso kuthinteka, isibikezelo asisihle. Iningi lezinsana alisindi ezinsukwini zokuqala zokuphila . Ezimweni ezincane, lapho izimpawu zingenzima kangako futhi izitho zingathinteki kakhulu, isikhathi sokuphila singase sibe side kancane.

Udokotela wakho uzokhuluma nawe ngezingozi zokuxilongwa kwengane yakho, futhi uzoncoma ukwelashwa ukuze kwandise impilo yayo. Uma ukuxilongwa kwengane yakho kubucayi, ukunakekelwa kokwelapha ubuhlungu kungaba yindlela yokukusiza ubhekane nosizi lokulahlekelwa othandekayo.Iseluleko sosizi noma sokushonelwa singase sinconywe.

Kufanele ngimbone nini udokotela?

Uma ubona noma yiziphi izinguquko ngesikhathi sokukhulelwa kwakho, ikakhulukazi uma ingane yakho iyeka ukunyakaza ngokuzumayo ngemva kokuhamba kahle , bona udokotela wakho ngokushesha. Ingane yakho ingase izalwe ngaphambi kwesikhathi esilindelwe. Ngakho-ke, kubaluleke kakhulu ukuba nokuhlolwa njalo kokukhulelwa nodokotela wakho ukuze ulungiselele ukuzalwa kwengane yakho.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Kuvamile ukuba nemibuzo eminingi engqondweni yakho ngesikhathi esinjengalesi. Zama ukubuza udokotela wakho le mibuzo:

• Iyini imbangela eyinhloko yokuxilongwa kwengane yami?
• Ingabe ngizodinga ukuhlinzwa ngemva kokuzalwa kwengane yami?
• Yimiphi imiphumela emibi yokwelashwa okuncomile?
• Iyiphi indlela ephephile yokubeletha ingane yami ene-Potter syndrome?
• Yini engingayenza ukuze ngisize ingane yami iphile?

Kungaba yinto ebuhlungu kakhulu futhi enzima ukubhekana nezindaba zokuthi ingane yakho ingase ingasindi ekuxilongweni okusongela impilo. Udokotela wakho uzosebenzisana nawe eduze ukuze anqume ukuthi ingane yakho ixilongiwe. Bazoqinisekisa ukuthi ingane yakho iphephile nokuthi ithola ukwelashwa okusheshayo ukuze kuncishiswe izimpawu ngemva kokuzalwa.

Okokugcina, izinto okufanele uzikhumbule

I-Potter Syndrome iyisimo esibuhlungu ngempela. Uma ufunda ngayo, ungase uzizwe udabuke kakhulu futhi wesaba. Lokho kuvamile.

• Khumbula ukuthi lesi yisimo esingavamile kakhulu .
• Isizathu esiyinhloko salokhu ukuthi izinso zomntwana azikhuli kahle ngakho-ke kukhona ukwehla koketshezi lwe-amniotic .
• Ukutholwa kusenesikhathi ngesikhathi sokukhulelwa kubalulekile .
• Uma izimpawu zinzima, izingane eziningi ngeke zisinde . Kunzima kakhulu ukwazi lokhu, kodwa kubalulekile ukukhuluma ngakho ngokwethembeka.
• Awuwedwa. Ithimba lakho lezokwelapha, umndeni, nabangani bazokusekela phakathi nalesi sikhathi esinzima . Unganqikazi ukufuna iseluleko uma kudingeka.

Sithemba ukuthi lolu lwazi lukusizile ukuthi uqonde lesi simo esingavamile. Uma uneminye imibuzo, ungangabazi ukukhuluma nodokotela wakho.

I- Potter syndrome, i-Potter syndrome, ingane, izinso, uketshezi lwe-amniotic, ukukhulelwa, izimpawu, ukwelashwa