Ujabule kangakanani ukubona ukwengezwa okusha emndenini wakho? Kodwa, cabanga, ukube umzimba wonke wengane yakho wawumbozwe isikhumba esijiyile, esinamaqhubu, nesinamaqhubu ngemuva nje kokuzalwa? Ukushaqeka nokwesaba okuzwiwa yinoma yimuphi umzali lapho ekubona kunzima ukukusho ngamazwi. Namuhla sizokhuluma ngesinye isimo esingavamile kakhulu nesibucayi, i-Harlequin Ichthyosis. Ungesabi uma uzwa lokhu. Namuhla, ngokuthuthuka kwesayensi yezokwelapha, kunezindlela eziningi zokuphatha lesi simo. Ake sifunde kabanzi ngaso.
Kalula nje, iyini i-Harlequin Ichthyosis?
I-Harlequin Ichthyosis uhlobo olubi kakhulu nolubi kakhulu lwesifo sesikhumba olubizwa ngokuthi i-Ichthyosis . I-Ichthyosis yisimo esenzeka lapho kunenkinga ngendlela amangqamuzana esikhumba sethu akhula futhi afe ngayo. Ezinye izinhlobo ze-Ichthyosis zincane kakhulu futhi zingalawulwa ngokunakekelwa kahle kwesikhumba. Kodwa-ke, i-Harlequin Ichthyosis yisimo esisongela ukuphila esidinga ukunakekelwa okuseduze kwezokwelapha kusukela ekuzalweni.
Lesi yisifo esibangelwa ufuzo . Lokhu kusho ukuthi sitholwa ngabazali kubantwana. Lesi simo asivamile kangangokuthi sithinta cishe ingane eyodwa kwezingu-500,000. Kodwa-ke, ngemithi ethuthukisiwe yanamuhla, izingane ezizalwa nalesi sifo manje sezinethuba lokuphila zize zibe ngabantu abadala.
Yiziphi izimpawu eziyinhloko zalesi sifo?
Izimpawu zalesi sifo ziyahlukahluka kancane ngokweminyaka yengane. Izimpawu zosana olusanda kuzalwa nezengane endala kancane zihlukile. Ake sikuchaze kanje ukuze sikuqonde kahle.
| Iqembu lobudala | Izimpawu ezivame ukubonakala |
|---|---|
| Izinsana ezisanda kuzalwa |
|
| Izingane ezindala kanye nabantu abadala |
Ingabe lesi simo sibuhlungu?
Yebo, lokhu kungaba buhlungu enganeni esanda kuzalwa. Cabanga ngemifantu ejulile esikhumbeni, ubuhlungu besikhumba obuphumayo. Ngakho-ke, odokotela nabahlengikazi egunjini lokunakekelwa okujulile kwezingane ezisanda kuzalwa (i-NICU) banikeza ingane imithi yokuqeda ubuhlungu (isib. i-Paracetamol, i-Ibuprofen). Balinganisa ubuhlungu ngokuqapha ukushaya kwenhliziyo yengane nokukhala kwayo, futhi baqinisekise ukuthi ikhululekile ngangokunokwenzeka .
Kungani lokhu kwenzeka? Iyini imbangela?
Isizathu esiyinhloko salokhu ukuguquka kwezakhi zofuzo i-ABCA12 . Ake sikuqonde kalula lokhu.
Cabanga ngaleli jini le-ABCA12 njenge-'Delivery Service' ethwala izinto ezibalulekile njengamafutha (ama-lipid) aye engxenyeni engaphandle yesikhumba sethu. Lolu ngqimba lwamafutha yilona olugcina isikhumba sethu siguquguquka futhi sinempilo. Kumuntu one-Harlequin Ichthyosis, ngenxa yephutha kule jini, lelo 'Delivery Service' alisebenzi kahle. Ngenxa yalokho, amafutha awafiki kahle emangqamuzaneni esikhumba, futhi amangqamuzana esikhumba ayanqwabelana phezu komunye nomunye, akha ungqimba oluqinile noluqinile.
Njengoba lesi kuyisifo esibangelwa ufuzo, ukuze ingane ibe nalesi sifo, kumele sitholwe njengefa kumama nakubaba.Lesi sakhi sofuzo esingasebenzi kahle kumele sizuzwe njengefa. Uma bobabili abazali bengabathwali besakhi sofuzo esingasebenzi kahle (okusho ukuthi abanazo izimpawu, kodwa banesakhi sofuzo), kunethuba elingama-25% (elilodwa kwabane) lokuthi ingane yabo izoqala ukuba nalesi sifo.
Odokotela baxilonga futhi baphathe kanjani lesi sifo?
Ngokuvamile, odokotela bangakwazi ukuxilonga lesi simo lapho bezalwa ngenxa yokubukeka kwengane okuhlukile. Kodwa-ke, kwenziwa ukuhlolwa kofuzo ukuze kuqinisekiswe. Ngisho nangesikhathi sokukhulelwa, odokotela bangase basole lesi simo uma bebona izimpawu ezifana nokushintsha kwesikhumba noma ukuvula umlomo wengane njalo kuma-ultrasound scans. Uma kudingeka, bangakwazi futhi ukuxilonga lesi simo kusenesikhathi ngezivivinyo ezikhethekile (njenge-amniocentesis) ngesikhathi sokukhulelwa.
Izindlela zokwelapha
I-Harlequin Ichthyosis ayisona isifo esingelapheki ngokuphelele, kodwa izimpawu zingalawulwa futhi ingane ingaphila impilo entofontofo nende.
Ukwelashwa kungahlukaniswa izingxenye ezimbili eziyinhloko:
1. Ukwelashwa Kweyunithi Yokunakekelwa Okujulile Kwezingane Ezisanda Kuzalwa (i-NICU): Amaviki ambalwa okuqala empilo yengane yiwona asengozini kakhulu. Ukwelashwa okunikezwayo ngalesi sikhathi yikho okusindisa impilo yengane.
2. Ukuphathwa kwesikhathi eside ekhaya: Ukunakekelwa impilo yonke ngemva kokubuya ekhaya evela e-NICU.
Ake sibheke lokhu kwelashwa ngokuningiliziwe.
| Indlela yokwelapha | Incazelo |
|---|---|
| Ukwelashwa kwe-NICU (Iyunithi Yokunakekelwa Okujulile Kwezingane Ezisanda Kuzalwa ) | |
| Ukwelashwa kwe-Retinoid | Lona umuthi onikezwa ngomlomo noma osetshenziswa esikhumbeni. Usiza ungqimba olujiyile lwesikhumba ukuba luqhekeke ngokushesha nesikhumba esingaphansi siphole. Lesi kube yisizathu esiyinhloko sokusindisa izimpilo zalaba bantwana ezikhathini zamuva nje. |
| Ukunakekelwa kwesikhumba | Kusetshenziswa ama-moisturizers akhethekile kanye namafutha okugcoba njalo ukuze kugcinwe umswakama esikhumbeni. Kusetshenziswa amafutha okubulala amagciwane ukuvimbela amagciwane ukuthi angangeni ngemifantu esikhumbeni. |
| Indawo enomswakama | Umswakama emshinini wokufukamela lapho umntwana egcinwe khona uphezulu kakhulu. Lokhu kunciphisa ukoma kwesikhumba. |
| Ukudla okunempilo kanye nokuncelisa | Njengoba engenakukwazi ukumunca ubisi, unikezwa ukudla okunomsoco okudingekayo ngepayipi elincane elifakwa esiswini sakhe (ipayipi lokuncelisa). |
| Ukuphathwa kwesikhathi eside ekhaya | |
| Ukugeza njalo | Ukugeza nsuku zonke kusiza ukuthambisa isikhumba nokususa izingqimba ezijiyile zesikhumba esifile. |
| Ukufaka umswakama njalo | Kufanele ufake i-moisturizer noma into efana ne-petroleum jelly emzimbeni wakho wonke izikhathi eziningana ngosuku. Lokhu kuzovimbela isikhumba ukuba some futhi siqhekeke. |
| Ukuhlangana nochwepheshe | Kubalulekile ukuba nobuhlobo obuseduze nodokotela wesikhumba . Futhi, kuzodingeka ubone ochwepheshe bezinkinga zamehlo, indlebe kanye namalunga njalo. |
| Ukuvikelwa emazingeni okushisa aphezulu | Njengoba ungakwazi ukujuluka, umzimba ungashisa kakhulu lapho kushisa. Ngakho-ke, udinga ukuqaphela ilanga nokushisa. |
Into ebaluleke kakhulu uthando, ukunakekelwa, kanye namandla engqondo abazali nomndeni. Lolu uhambo oluyinselele. Ngakho-ke, kubaluleke kakhulu ukufuna ukwesekwa kodokotela, abeluleki, kanye neminye imindeni enezingane ezinjengalezi.
Umlayezo Wokuya Nawe Ekhaya
- I-Harlequin Ichthyosis isifo sesikhumba esingavamile kakhulu kodwa esibi kakhulu esibangelwa izakhi zofuzo. Asithelelani.
- Lesi simo singasongela impilo yosana olusanda kuzalwa, ngakho-ke kubalulekile ukuthola ukwelashwa eyunithi yokunakekelwa okujulile kwezingane ezisanda kuzalwa (i-NICU) emasontweni ambalwa okuqala.
- Ngenxa yezindlela zokwelapha zesimanje, ikakhulukazi ukwelashwa nge-retinoid , izinga lokusinda kwalezi zingane likhuphuke kakhulu.
- Lesi yisimo esihlala isikhathi eside. Kubalulekile ukunakekela isikhumba njalo, ukunikeza ukudla okunempilo, nokulandela iseluleko sodokotela abangochwepheshe.
- Ngokuphathwa okufanele, abantu abanalesi simo bangaphila impilo ende, ekhululekile, nenenjongo.
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