Ingaba izintso zomntwana wakho azisebenzi kakuhle? Masiqaphele le Potter Syndrome!

Ukuba ungumama oza kuzala, mhlawumbi ukhathazeka kakhulu ngempilo yomntwana wakho, akunjalo? Kuqhelekile ukuzibuza ukuba umntwana wakho ukhula kakuhle esibelekweni kwaye yonke into ihamba kakuhle na. Namhlanje siza kuthetha ngemeko engaqhelekanga kakhulu enokuchaphazela iintsana. Ibizwa ngokuba yiPotter Syndrome. Usenokuba nexhala xa usiva oku, kodwa kubaluleke kakhulu ukukwazi.

Ngamafutshane, yintoni iPotter Syndrome?

Kulungile, masiyihlalutye le nto. I-Potter syndrome, ngamanye amaxesha ebizwa ngokuba yi-Potter sequence , yimeko engaqhelekanga echaphazela uphuhliso lomntwana ngelixa esesibelekweni. Eyona nto ibangela oku kukuba izintso zomntwana azikhuli kakuhle okanye ukusebenza kwazo kuyaphazamiseka . Ubusazi ukuba xa umntwana esesibelekweni, kukho ulwelo oluninzi lwe-amniotic olujikeleze yena. Izintso zidlala indima enkulu ekugcineni ubungakanani bolulwelo lwe-amniotic bulawulwa. Ngoko ke xa izintso zingasebenzi kakuhle, ubungakanani bolulwelo lwe-amniotic buyancipha. Oku kubizwa ngoogqirha ngokuba yi-oligohydramnios.

Okubuhlungu kukuba, ngamanye amaxesha umntwana uzalwa engenazo zombini izintso, imeko ebizwa ngokuba yi-"Bilateral Renal Agenesis", enokubangela ukufa. Nangona kunjalo, ezinye iintsana zinokusinda ukuba iimpawu zazo zincinci okanye ukuba ukulahleka kolwelo akukubi kakhulu. Nangona kunjalo, ezi ntsana zinokuba neengxaki ezingapheliyo zemiphunga nezintso njengoko zikhula.

Ngubani onokuthi achaphazeleke kakhulu yile meko?

Enyanisweni, le meko ibizwa ngokuba yiPotter syndrome inokuchaphazela naluphi na usana. Kuba inxulumene ngokuthe ngqo nokungabikho kolwelo lwe-amniotic. Nangona kunjalo, ezinye izifundo zifumanise ukuba iintsana ezingamakhwenkwe zinamathuba amancinci okuba nale meko .

Ngaba iPotter syndrome idluliselwa njengelifa?

Oku kuyinkimbinkimbi kancinci. I-Potter syndrome ayisiyongxaki yemfuza. Nangona kunjalo, kukho ezinye iimeko ezinokusibangela. Makhe sijonge ukuba ziyintoni na:

• Isifo sezintso esine-polycystic: Esi sinokufunyanwa kumama okanye kutata (i-autosomal dominant) okanye kubazali bobabini (i-autosomal recessive). Oku kubangela ukuba kubekho ii-cysts kwizintso.
• Ukukhula kwezintso: Oku kukusilela kwezintso ukukhula. Ngamanye amaxesha oku kunokubangelwa kukuguquka kwezakhi zofuzo kwi-FGF20 okanye kwi-GREB1L. Le meko inokuzuzwa njengelifa ngendlela ye-autosomal dominant okanye ye-autosomal recessive. Oku kuthetha ukuba umntwana kufuneka azuze olu tshintsho lwezakhi zofuzo kumzali omnye okanye bobabini.
• Utshintsho oluqhubekayo kwimfuza: Ngamanye amaxesha, utshintsho olungaqhelekanga kwimfuza lunokubangela i-Potter syndrome, nokuba akukho mntu kusapho lwakhe wakha waba nale meko ngaphambili.

Ixhaphake kangakanani le meko?

Isifo sikaPotter sisifo esingaqhelekanga kakhulu . Kuqikelelwa ukuba esi sifo sichaphazela umntwana omnye kuphela kwiintsana ezingama-4,000 ukuya kwi-10,000 ezizalwayo. Ngoko ke ungoyiki xa usiva ngaso. Kodwa kubalulekile ukuba uqaphele.

I-Potter syndrome ichaphazela njani umzimba womntwana?

Le yeyona nto ibalulekileyo. I-Potter syndrome ichaphazela indlela amalungu angaphakathi omntwana, ingakumbi izintso, akhula aze asebenze ngayo . Njengoko usazi, izintso zizinto ezibalulekileyo ezisusa inkunkuma kunye nolwelo olongezelelweyo emizimbeni yethu. Xa umntwana esesibelekweni, izintso zivelisa umchamo. Lo mchamo uphinde usetyenziswe njengolwelo lwe-amniotic.

Ngoko ke, ukuba izintso zomntwana azisebenzi kakuhle, aziyi kuvelisa ulwelo lwe-amniotic olwaneleyo ukuze zimjikeleze. Olu lwelo lwe-amniotic lulo olumkhuselayo umntwana. Xa olu lwelo lulahlekile, indlela amalungu omzimba nomzimba womntwana akhula ngayo iyachaphazeleka. Ngamanye amazwi, amalungu omzimba awakhuli ngokupheleleyo . Emva koko loo malungu awakwazi ukwenza imisebenzi yawo ngokufanelekileyo. Yile nto ibangela iimpawu ezisongela ubomi.

Zithini iimpawu zePotter syndrome?

Iimpawu zePotter syndrome zingahluka ukusuka kusana ukuya kusana, kwaye ubunzima bemeko bunokwahluka. Ezi mpawu zinokuchaphazela nokukhulelwa kwakho, nto leyo enokukhokelela ekuzalweni ngaphambi kwexesha .

Ukunqongophala kolwelo lwe-amniotic

Ngexesha lokukhulelwa, kukho ulwelo olucacileyo nolumthubi olujikeleze umntwana. Olu lulwelo lwe-amniotic. Olu lukhusela umntwana kwaye lumnika indawo yokukhula. Lusebenza njengomqobo phakathi kodonga lwesibeleko nomntwana. Iintsana ezine-Potter syndrome azinalo olwaneleyo olu lwelo lwe-amniotic, ngoko ke uxinzelelo oluvela eludongeni lwesibeleko luchaphazela indlela umntwana akhula ngayo.

Iimpawu ezikhethekileyo zobuso nomzimba

Uxinzelelo olubangelwa kukungabikho kolwelo lwe-amniotic luchaphazela indlela umzimba womntwana okhula ngayo. Oku kunokubangela iimpawu ezithile zobuso. Oku kubizwa ngokuba yi- "Potter facies" . Ezi mpawu zezi:

• Isilevu asiphuhli kakuhle (sibonakala ngathi sijike ngaphakathi).
• Ukuba nemibimbi ngaphantsi komlomo ongezantsi.
• Amehlo abekwe kude kakhulu.
• Ibhulorho eNaha yasitha.
• Iindlebe ezisezantsi kunye ne-cartilage enciphileyo ezindlebeni.
• Ulusu luyagoba kwiikona zamehlo.

Olu xinzelelo lunokuchaphazela nophuhliso lwezinye iindawo zomzimba womntwana. Umzekelo:

• Ukufinyela kweengalo nemilenze.
• Ukungakwazi ukolula nokulungisa amalungu ngokufanelekileyo, kunye nokuqina (ukugoba).
• Ubungakanani bomntwana buncinci xa buthelekiswa nobudala bokukhulelwa.

Amalungu omzimba angaphuhliswanga kakuhle okanye angasebenzi kakuhle

Iimpawu ezichaphazela amalungu omzimba zezona zisongela ubomi.Kwi-Potter syndrome, uphuhliso lomntwana luyachaphazeleka, ngoko ke amalungu angaphakathi awafumani miyalelo okanye ixesha alidingayo ukuze akhule ngokufanelekileyo. Iimpawu ezinokubakho ngenxa yoko zezi:

• Iimeko zentliziyo zokuzalwa.
• Izifo zamehlo (umz. i-cataracts, i-lens luxation).
• Izifo zezintso (ukungasebenzi kakuhle kwezintso okungapheliyo, ukuveliswa kwezintso, isifo sezintso esine-polycystic).
• Izifo zemiphunga (isifo semiphunga esingapheliyo, ukuphefumla okungapheliyo).

Uphuhliso olungaqhelekanga lwezintso luchaphazela nobungakanani bomchamo olunokuveliswa lusana. Olu luphawu olukhangelwa ngoogqirha xa befumanisa isifo sikaPotter.

Zithini izizathu zePotter syndrome?

Kukho izinto ezininzi ezinokubangela i-Potter syndrome. Nazi:

• Izintso ezingakhuli kakuhle okanye ezingenazo izintso.
• Isifo sezintso esine-polycystic.
• Isifo sesisu sePrune (isifo sesisu sePrune / isifo seEagle-Barrett)
• Ukuvaleka kwendlela yomchamo.
• Ukuvuza kolwelo lwe-amniotic ngenxa yokuqhekeka kwee-membranes.
• Iimeko zempilo ezingalawulekiyo kumama, umzekelo, isifo seswekile sohlobo loku-1.

Ezi mpawu, ingakumbi ezo zichaphazela izintso, zenzeka kuba akukho fluid eyaneleyo ye-amniotic esibelekweni ukuze ijikeleze umntwana .

Kutheni le nto olu lwelo lwe-amniotic luncipha?

Makhe sijonge oku ngeenkcukacha ezithe vetshe. Isizathu esiphambili kukukhula okungaqhelekanga kwezintso .

Ubusazi na ukuba ngexesha lokukhulelwa, umntwana wakho udada kulwelo olucacileyo nolutyheli olubizwa ngokuba yi-amniotic fluid. Olu lwelo lukhusela umntwana wakho kwaye lumnceda ukuba akhule kulo lonke ixesha lokukhulelwa kwakho? Kwasekuqaleni kokukhulelwa kwakho, olu lwelo lwe-amniotic lwenziwe ngamanzi kunye nezondlo ezivela emzimbeni wakho. Umntwana wakho usela olu lwelo lwe-amniotic. Phakathi kweeveki ezili-16 nelama-20, umntwana wakho uqala ukufaka isandla kolu lwelo lwe-amniotic. Uyazi njani? Ngokuchama! Umntwana wakho usela olu lwelo aze alukhuphe njengomchamo. Oku kwenzeka kumjikelo.

Ngoko ke, ukuba umntwana wakho unePotter syndrome, amalungu akhe okwenza umchamo, ezizintso, awakhuliswanga kakuhle, okanye awekho, okanye awasebenzi. Ngenxa yokuba umntwana akanakuchama, akanakufaka isandla kubungakanani bolwelo lwe-amniotic olumkhuselayo. Yiyo loo nto kukho ulwelo lwe-amniotic oluncinci esibelekweni.

Ngaba kukho iintlobo ezahlukeneyo zePotter syndrome?

Ewe, oogqirha bahlula iintlobo ezahlukeneyo zePotter syndrome, kuxhomekeke kwiimpawu ezichaphazela izintso.

• I-Classic Potter syndrome: Olu lolona hlobo luxhaphakileyo. Lwenzeka xa umntwana ezalwa engenazo zombini izintso.
• Uhlobo lwesifo sikaPotter I:Olu hlobo lwesimo lubangelwa yimeko ebizwa ngokuba yi-polycystic kidney disease, efunyanwa ngabazali bobabini kwaye yimeko ye-autosomal recessive. Kule meko, ii-cysts zenzeka kwizintso.
• Isifo sikaPotter uhlobo lwesibini: Olu hlobo lwesifo lubangelwa kukungaqheleki kophuhliso lwezintso okwenzeka esibelekweni ngexesha lokukhulelwa.
• Isifo sikaPotter uhlobo lwesithathu: Oku kubangelwa sisifo sezintso esine-polycystic, njengohlobo I. Nangona kunjalo, sifunyanwa ngumzali omnye kuphela (i-Autosomal dominant).
• Isifo sikaPotter uhlobo lwesine: Olu hlobo lwesifo lubangelwa kukuthinteleka kwendlela yomchamo (obstructive uropathy) ngenxa yokukhula okungaqhelekanga komntwana esibelekweni.

I-Potter syndrome ifunyaniswa njani?

I-Potter syndrome inokuchongwa ngexesha lokukhulelwa ngokuhlolwa kwangaphambi kokukhulelwa . Olunye uphawu lokuba unokuba nale meko ngexesha lokukhulelwa kukungabikho kolwelo lwe-amniotic olujikeleze umntwana. Ugqirha wakho uza kukhangela oku ngexesha lokuhlolwa kwe-ultrasound. Baza kukhangela neempawu zomzimba ezifana nokuqina kwamalungu (ukuqunjelwa).

Ukuba oku akubonwanga ngaphambi kokuba umntwana azalwe, ugqirha uya kwenza uvavanyo lomzimba emva kokuba umntwana ezelwe ukuze ajonge iimpawu. Ezi mpawu ziquka:

• Ukuphuma komchamo kuphantsi kakhulu.
• Ukuba neempawu ezithile zobuso.
• Ubunzima bokuphefumla.

Zeziphi iimvavanyo ezenziwayo ukuqinisekisa oku?

Ugqirha angenza iimvavanyo ezininzi ukuqinisekisa ukuxilongwa:

• Uvavanyo lwegazi oluvela kwimfuza ukuze kuchongwe imfuza ebangela iimpawu.
• Jonga imiphunga, izintso, kunye nendlela yokuchama yomntwana wakho ngovavanyo lwemifanekiso olufana ne -X-ray, i-MRI, okanye i-ultrasound .
• Uvavanyo lwegazi okanye lomchamo ukujonga amanqanaba e-electrolyte kunye nee-enzyme.
• Uvavanyo lwe-echocardiogram ukujonga iimpawu zesifo sentliziyo.

Zithini iindlela zonyango zoku?

Unyango lwePotter syndrome luxhomekeke kubunzima beengxaki zemiphunga nezentliziyo (i-pulmonary hypoplasia) ezichaphazela umntwana wakho, kunye neendlela ezikhoyo zokuxhasa ukusebenza kwezintso zomntwana wakho.

Cinga ngako oku, umntwana wakho okhulayo kufuneka ajikelezwe lulwelo lwe-amniotic ngexesha lokukhulelwa ukuze akhule kakuhle amaphaphu akhe. Ukuba isifuba somntwana sixinene ixesha elide, unokulahlekelwa zizicubu ezaneleyo zemiphunga ukuze aphile emva kokuzalwa.

Ukunyanga umntwana osandul’ ukuzalwa onesifo sezintso ngokupheleleyo kunokuba nzima kakhulu. Kwezinye iimeko, ukungenelela konyango olunzulu kunqongophele kwaye unyango lokuthomalalisa usana olusandul’ ukuzalwa lusetyenziselwa ukugcina umntwana kunye nabazali kunye nokubonelela ngentuthuzelo kumntwana.Unyango lwendlela yokusebenza lunokuba lukhetho.

Ukuba umntwana wakho uyasinda emva kokuzalwa, unyango luza kugxila kakhulu ekuthinteleni iimpawu ezisongela ubomi. Olu nyango lungabandakanya:

• Ukusetyenziswa kwezixhobo zokuxhasa ukuphefumla (umz. umphefumli ).
• Amayeza ancedisayo anceda ukusebenza kakuhle kwemiphunga.
• Utyando lokulungisa okanye ukususa imiqobo kwindlela yomchamo.
• Utyando lokuphucula ukondla nge-IV nutrition therapy, i-nasogastric tube, okanye i-feeding tube.
• I-Dialysis lunyango lokususa iityhefu eziqokelelana egazini ngenxa yokungasebenzi kakuhle kwezintso. Ukuba unyango lwe-dialysis aluphumelelanga emva kweminyaka eliqela, ugqirha unokucebisa ukufakelwa izintso .

Ngokuxhomekeke ekubeni umntwana wakho ufunyenwe nini, unyango lunokuqala ngexesha lokukhulelwa. Ungafanelekela nonyango lophando, olufana ne -amnioinfusion, olufaka ulwelo kwi-amniotic cavity yakho ukuze luthathe indawo yolwelo olujikeleze umntwana wakho. Olu nyango lusebenza ngcono ngaphambi kweeveki ezingama-22 zokukhulelwa.

Ngaba iPotter syndrome ingathintelwa?

Ngelishwa, akukho ndlela yokuthintela iPotter syndrome .

Yintoni endimele ndiyilindele ukuba umntwana wam unePotter syndrome?

Akukho nyango lwePotter syndrome. Kwiimeko ezininzi, ukuba le meko ifunyaniswa kwangethuba ngexesha lokukhulelwa, ugqirha wakho unokucwangcisa ukubeleka okukhuselekileyo aze anike unyango lokunceda umntwana wakho aphile emva kokuzalwa.

Iimpawu zePotter syndrome zibeka ubomi esichengeni. Nangona kunjalo, ngaphandle kokuba imiphunga kunye nezintso zomntwana wakho zichaphazeleke kakhulu, umntwana wakho unokuba noqikelelo olungcono kancinci.

Ngenxa yokuba unyango luqala kwangoko emva kokuzalwa, ayizizo zonke iindlela zonyango eziphumelelayo. Kusenokufuneka benze utyando oluninzi kwasebuntwaneni.

Ingakanani ixesha lokuphila komntwana one-Potter syndrome?

Iintsana ezifunyaniswe zinePotter syndrome zinokuba nexesha elifutshane kakhulu lokuphila . Oku kwahlukile kumntu wonke, kwaye kuxhomekeke kwiimpawu. Ukuba iimpawu zinzima, kwaye ukuba uphuhliso kunye nokusebenza kwamalungu amakhulu afana nentliziyo, imiphunga, kunye nezintso kuyachaphazeleka, i-prognosis ayilunganga. Uninzi lweentsana aluphili kwiintsuku zokuqala zobomi . Kwiimeko ezincinci, apho iimpawu zingekho nzima kangako kwaye amalungu angachaphazeleki kakhulu, ixesha lokuphila linokuba lide kancinci.

Ugqirha wakho uza kuthetha nawe malunga neengozi zokufunyaniswa kwesifo somntwana wakho, kwaye uza kucebisa unyango oluza kwandisa ubomi bakhe. Ukuba ukuxilongwa kwesifo somntwana wakho kunzulu, unyango lokudambisa intlungu lunokuba yindlela yokukunceda ujongane nentlungu yokufelwa ngumntu omthandayo.Ingcebiso ngentlungu okanye ukufelwa ingacetyiswa.

Ndifanele ndimbone nini ugqirha?

Ukuba ubona naluphi na utshintsho ngexesha lokukhulelwa kwakho, ingakumbi ukuba umntwana wakho ngequbuliso uyeka ukuhamba emva kokuba ephilile , bonana nogqirha wakho ngoko nangoko. Umntwana wakho usenokuzalwa ngaphambi kwexesha elilindelweyo. Kungoko ke, kubaluleke kakhulu ukuba novavanyo lokukhulelwa rhoqo nogqirha wakho ukuze ulungiselele ukuzalwa komntwana wakho.

Ndingayibuza yiphi imibuzo ugqirha wam?

Kuqhelekile ukuba nemibuzo emininzi engqondweni yakho ngexesha elinje. Zama ukubuza ugqirha wakho le mibuzo:

• Yintoni ebangela ukuba umntwana wam afunyaniswe enesifo?
• Ngaba ndiza kufuna utyando emva kokuba umntwana wam ezelwe?
• Zithini iziphumo ebezingalindelekanga zonyango olucetyisiweyo?
• Yeyiphi indlela ekhuselekileyo yokuzala umntwana wam onePotter syndrome?
• Ndingenza ntoni ukunceda umntwana wam asinde?

Kunokuba ngamava abuhlungu kakhulu kwaye kunzima ukujongana neendaba zokuba umntwana wakho usenokungasindi emva kokuxilongwa okusongela ubomi. Ugqirha wakho uza kusebenza ngokusondeleyo nawe ukuze afumanise ukuba umntwana wakho unesifo. Baza kuqinisekisa ukuba umntwana wakho ukhuselekile kwaye bafumana unyango olukhawulezileyo ukuze banciphise iimpawu emva kokuzalwa.

Okokugqibela, izinto ekufuneka uzikhumbule

I-Potter Syndrome yimeko ebuhlungu ngokwenene. Xa ufunda ngayo, ungaziva ulusizi kwaye woyika. Yinto eqhelekileyo leyo.

• Khumbula ukuba le yimeko engaqhelekanga kakhulu .
• Isizathu esiphambili soku kukuba izintso zomntwana azikhuli kakuhle kwaye ngenxa yoko kukho ukwehla kolwelo lwe-amniotic .
• Kubalulekile ukuqaphela kwangethuba ngexesha lokukhulelwa .
• Ukuba iimpawu zinzima, iintsana ezininzi azizukuphila . Kunzima kakhulu ukwazi oku, kodwa kubalulekile ukuthetha ngako ngokunyanisekileyo.
• Awuwedwa. Iqela lakho lezonyango, usapho, kunye nabahlobo baya kukuxhasa ngeli xesha linzima . Musa ukuthandabuza ukufuna iingcebiso ukuba kuyimfuneko.

Siyathemba ukuba olu lwazi lukuncede ukuba uqonde ngakumbi ngesi sifo singaqhelekanga. Ukuba unemibuzo engaphezulu, ungathandabuzi ukuthetha nogqirha wakho.

Isifo sikaPotter, isifo sikaPotter, usana, izintso, ulwelo lwe-amniotic, ukukhulelwa, iimpawu, unyango