Uvuya kangakanani ukubona ulusu olutsha lusanda kutsha kusapho lwakho? Kodwa, khawucinge, ukuba umzimba wonke womntwana wakho ubugqunywe lulusu oluqinileyo, olunamaxolo, nolunamaxolo emva nje kokuzalwa? Uloyiko noloyiko oluviwa ngumzali xa ebona kunzima ukuluchaza. Namhlanje siza kuthetha ngesinye sezifo ezingaqhelekanga nezinzima, iHarlequin Ichthyosis. Musa ukoyika xa usiva oku. Namhlanje, ngokuhambela phambili kwesayensi yezonyango, kukho iindlela ezininzi zokulawula le meko. Masifunde ngakumbi ngayo.
Ngamafutshane, yintoni iHarlequin Ichthyosis?
I-Harlequin Ichthyosis lolona hlobo lubi kakhulu nolunzima lwesifo solusu esibizwa ngokuba yi -Ichthyosis . I-Ichthyosis yimeko eyenzeka xa kukho ingxaki ngendlela iiseli zethu zolusu ezikhula kwaye zifa ngayo. Ezinye iintlobo ze-Ichthyosis zincinci kakhulu kwaye zinokulawulwa ngononophelo olufanelekileyo lolusu. Nangona kunjalo, i-Harlequin Ichthyosis yimeko esongela ubomi efuna unyango olusondeleyo kwasekuzalweni.
Esi sisifo esibangelwa lufuzo . Oku kuthetha ukuba sifunyanwa ngabazali ukuya ebantwaneni. Esi sifo sinqabile kangangokuba sichaphazela umntwana omnye kuphela kwabayi-500,000. Nangona kunjalo, ngonyango oluphucukileyo lwanamhlanje, abantwana abazelwe nesi sifo ngoku banethuba lokuphila bade babe ngabantu abadala.
Ziziphi iimpawu eziphambili zesi sifo?
Iimpawu zesi sifo ziyahluka kancinci ngokweminyaka yomntwana. Iimpawu zosana olusandul’ ukuzalwa nezomntwana omdala kancinci zahlukile. Masiyihlalutye ngolu hlobo ukuze siyiqonde kakuhle.
| Iqela leminyaka | Iimpawu eziqhelekileyo |
|---|---|
| Iintsana ezisandul' ukuzalwa |
|
| Abantwana abadala kunye nabantu abadala |
Ingaba le meko ibuhlungu?
Ewe, oku kunokuba buhlungu kumntwana osandul’ ukuzalwa. Cinga ngemifantu enzulu eluswini, intlungu yolusu oluqhekekayo. Ngoko ke, oogqirha kunye nabongikazi abakwiyunithi yokhathalelo oluphezulu lweentsana ezisandul’ ukuzalwa (i-NICU) banika umntwana amayeza okunciphisa iintlungu (umz., iParacetamol, i-Ibuprofen). Balinganisa iintlungu ngokujonga izinga lokubetha kwentliziyo yomntwana kunye nokulila kwakhe, kwaye baqinisekisa ukuba bakhululekile kangangoko .
Kutheni oku kusenzeka? Yintoni unobangela?
Isizathu esiphambili soku kukuguquka kwejini i- ABCA12 . Masiqonde oku ngokulula.
Cinga ngale gene ye-ABCA12 njenge-'Delivery Service' ethwala izinto ezibalulekileyo ezifana namafutha (lipids) ukuya kumaleko angaphandle kolusu lwethu. Olu maleko lwamafutha lugcina ulusu lwethu luguquguquka kwaye lusempilweni. Kumntu one-Harlequin Ichthyosis, ngenxa yesiphene kule gene, loo 'Delivery Service' ayisebenzi kakuhle. Ngenxa yoko, amafutha awafiki kwiiseli zolusu ngokufanelekileyo, kwaye iiseli zolusu ziyaqokelelana phezu komnye nomnye, zenze umaleko oqinileyo noqinileyo.
Ekubeni esi sisifo esibangelwa lufuzo, ukuze umntwana abe nesi sifo, kufuneka sithathwe njengelifa kumama nakutata.Le gene inesiphako kufuneka ifuzwe njengelifa. Ukuba bobabini abazali bathwala igene enesiphako (oko kuthetha ukuba abanazo iimpawu, kodwa banayo igene), kukho ithuba elingama-25% (umntu omnye kwabane) lokuba umntwana wabo abe nesifo.
Oogqirha bayixilonga baze bayinyange njani le sifo?
Amaxesha amaninzi, oogqirha banokuxilonga imeko ekuzalweni ngenxa yenkangeleko eyahlukileyo yomntwana. Nangona kunjalo, uvavanyo lwemfuza luyenziwa ukuqinisekisa ukuba iyavela. Kwanangexesha lokukhulelwa, oogqirha banokusola imeko ukuba babona iimpawu ezifana notshintsho lolusu okanye umlomo womntwana uvula rhoqo kwi-ultrasound scans. Ukuba kuyimfuneko, banokuxilonga imeko kwangethuba ngovavanyo olukhethekileyo (njenge-amniocentesis) ngexesha lokukhulelwa.
Iindlela zonyango
I-Harlequin Ichthyosis ayisosifo esinokunyangeka ngokupheleleyo, kodwa iimpawu zinokulawulwa kwaye umntwana angaphila ubomi obutofotofo nobude.
Unyango lunokwahlulwa lube ziinxalenye ezimbini eziphambili:
1. Unyango lweYunithi yoKhathalelo oluNzulu lweZinsana ezisandula ukuzalwa (i-NICU): Iiveki zokuqala ezimbalwa zobomi bomntwana zezona zisengozini kakhulu. Unyango olunikwa ngeli xesha lulo olusindisa ubomi bomntwana.
2. Ulawulo lwexesha elide ekhaya: Ukhathalelo lobomi bonke emva kokubuya ekhaya evela kwi-NICU.
Makhe sijonge olu nyango ngokweenkcukacha.
| Indlela yonyango | Inkcazo |
|---|---|
| Unyango lwe-NICU (iYunithi yoKhathalelo oluNzulu lweZifo eziSandulelayo ) | |
| Unyango lweRetinoid | Eli liyeza elinikwa ngomlomo okanye lisetyenziswe eluswini. Linceda umaleko ongqindilili wolusu ukuba uxobuke ngokukhawuleza kwaye ulusu olungaphantsi luphole. Le yeyona nto ibisoloko ibangela ukusindisa ubomi baba bantwana kutshanje. |
| Ukhathalelo lolusu | Kusetyenziswa izithambisi ezikhethekileyo kunye namafutha rhoqo ukugcina umswakama eluswini. Kusetyenziswa amafutha okubulala iintsholongwane ukuthintela iintsholongwane ukuba zingangeni ngemifantu eluswini. |
| Indawo enomswakama | Umswakama kwi-incubator apho umntwana agcinwa khona uphezulu kakhulu. Oku kunciphisa ukoma kolusu. |
| Isondlo kunye nokuncancisa | Ekubeni engenakukwazi ukufunxa ubisi, unikwa isondlo esifunekayo ngetyhubhu encinci efakwe esiswini sakhe (ityhubhu yokondla). |
| Ulawulo lwexesha elide ekhaya | |
| Ukuhlamba rhoqo | Ukuhlamba imihla ngemihla kunceda ukuthambisa ulusu nokususa iileya ezixineneyo zolusu olufileyo. |
| Faka i-moisturizer rhoqo | Ufanele uthambise i-moisturizer okanye into efana ne-petroleum jelly emzimbeni wakho wonke izihlandlo ezininzi ngemini. Oku kuya kuthintela ulusu ukuba lungatshi kwaye luqhekeke. |
| Intlanganiso neengcali | Kubalulekile ukuba nolwalamano olusondeleyo nogqirha wesikhumba . Kwakhona, kuya kufuneka ubone iingcali rhoqo ngeengxaki zamehlo, indlebe kunye namalungu. |
| Ukhuseleko kumaqondo obushushu aphezulu | Ekubeni ungenakubila, umzimba unokufudumala kakhulu xa kushushu. Ngoko ke, kufuneka ulumke elangeni nasebushushwini. |
Eyona nto ibalulekileyo luthando, inkathalo, kunye namandla engqondo abazali kunye nosapho. Olu luhambo olunzima. Ngoko ke, kubaluleke kakhulu ukufuna inkxaso koogqirha, abacebisi, kunye nezinye iintsapho ezinabantwana abanjengale.
Umyalezo Wokuya Ekhaya
- I-Harlequin Ichthyosis sisifo sesikhumba esingaqhelekanga kodwa esiyingozi kakhulu esibangelwa yimfuza. Asisuleli.
- Le meko inokuba yingozi kumntwana osandul’ ukuzalwa, ngoko ke kubalulekile ukufumana unyango kwiyunithi yokhathalelo oluphezulu lweentsana ezisandul’ ukuzalwa (i-NICU) kwiiveki ezimbalwa zokuqala.
- Ngenxa yonyango lwanamhlanje, ingakumbi unyango lwe-retinoid , izinga lokusinda kwaba bantwana linyuke kakhulu.
- Le yimeko yobomi bonke. Kubalulekile ukukhathalela ulusu rhoqo, ukunika ukutya okunempilo, kunye nokulandela iingcebiso zoogqirha abaziingcali.
- Xa belawulwa ngendlela efanelekileyo, abantu abanale meko banokuphila ubomi obude, obukhululekileyo nobunenjongo.
💬 Comments (0)
Akukho zimvo zithunyelweyo okwangoku. Faka uluvo lwakho apha okokuqala.
Faka uluvo lwakho