I-Harlequin ichthyosis: izimpawu, ukuxilongwa nokwelashwa

-Delile

• Izimpawu zeHarlequin Ichthyosis
• Ukuxilongwa kwenziwa kanjani
• Ukwelashwa kwe-Harlequin Ichthyosis
• Ingabe likhona ikhambi?

I-Harlequin ichthyosis isifo esingajwayelekile futhi esibi sofuzo esibonakala ngokuqina kongqimba lwe-keratin olwakha isikhumba sengane, ukuze isikhumba sibe sikhulu futhi sibe nokuthambekela kokudonsa nokwelula, sidale ukukhubazeka ebusweni nasemzimbeni wonke futhi silethe izinkinga yengane, njengokuphefumula kanzima, ukondla nokuthatha imithi ethile.

Ngokuvamile, izingane ezizalwa zine-harlequin ichthyosis zifa emasontweni ambalwa ngemuva kokuzalwa noma zisinde eminyakeni yobudala emi-3 kakhulu, ngoba ngoba isikhumba sinemifantu eminingana, umsebenzi wokuvikela isikhumba ukhubazekile, unethuba elikhulu lokutheleleka okuvela njalo.

Izimbangela ze-harlequin ichthyosis azikaqondakali ngokuphelele, kepha abazali abazidlayo banamathuba amaningi okuthola umntwana onje. Lesi sifo asinakho ukwelashwa, kepha kukhona izindlela zokwelashwa ezisiza ukuqeda izimpawu nokwandisa isikhathi sokuphila sengane.

Izimpawu zeHarlequin Ichthyosis

Usana olusanda kuzalwa olune-harlequin ichthyosis lunikeza isikhumba esimbozwe uqweqwe olujiyile kakhulu, olubushelelezi futhi olu-opaque olungahlehlisa imisebenzi eminingana. Izici eziyinhloko zalesi sifo yizi:

• Isikhumba esomile nesine-scaly;
• Ubunzima bokudla nokuphefumula;
• Ukuqhekeka namanxeba esikhunjeni, okuthanda ukuvela kwezifo ezahlukahlukene;
• Ukukhubazeka kwezitho zobuso, ezinjengamehlo, impumulo, umlomo nezindlebe;
• Ukungasebenzi kwe-thyroid;
• Ukuphazamiseka ngokweqile kokuphelelwa amandla kwamanzi ne-electrolyte;
• Ukuxebuka isikhumba emzimbeni wonke.

Ngaphezu kwalokho, ungqimba lwesikhumba olujiyile lungavala izindlebe, lungabonakali, ngaphezu kokuyekethisa iminwe nezinzwane kanye nephiramidi yamakhala. Isikhumba esijiyile sikwenza kube nzima ukuthi ingane inyakaze, ihlale ngokunyakaza okungagudluki.

Ngenxa yokukhubazeka komsebenzi wokuvikela isikhumba, kuyanconywa ukuthi le ngane idluliselwe eMnyangweni Wokunakekelwa Kwezinsana Neonatal (ICU Neo) ukuze ithole ukunakekelwa okubalulekile ukuze kugwenywe izinkinga. Qonda ukuthi i-ICU esanda kuzalwa isebenza kanjani.

Ukuxilongwa kwenziwa kanjani

Ukuxilongwa kwe-Harlequin ichthyosis kungenziwa ekunakekelweni kokubeletha ngezivivinyo ezifana ne-ultrasound, ekhombisa njalo umlomo ovulekile, ukuvinjelwa kokunyakaza kokuphefumula, ukuguqulwa kwamakhala, izandla ezihlale zilungisiwe noma zihlikihliwe, noma ngokuhlaziywa kwe-amniotic fluid noma i-biopsy. yesikhumba se-fetus esingenziwa emasontweni angama-21 noma angama-23 okukhulelwa.

Ngaphezu kwalokho, ukwelulekwa ngezakhi zofuzo kungenziwa ukuze kuqinisekiswe ithuba lokuthi ingane izalwe inalesi sifo uma abazali noma izihlobo bethula ufuzo olubangela lesi sifo. Ukwelulekwa ngofuzo kubalulekile ukuthi abazali nomndeni basiqonde lesi sifo nokunakekelwa okufanele bakuthathe.

Ukwelashwa kwe-Harlequin Ichthyosis

Ukwelashwa kwe-harlequin ichthyosis kuhlose ukunciphisa ukungaphatheki kahle kosana olusanda kuzalwa, ukudambisa izimpawu, ukuvimbela ukutheleleka nokwandisa isikhathi sokuphila kwengane. Ukwelashwa kufanele kwenziwe esibhedlela, ngoba ukugqabhuka nokuxebuka kwesikhumba kuvumela ukutheleleka ngamagciwane, okwenza lesi sifo sibe sibi nakakhulu futhi sibe yinkimbinkimbi.

Ukwelashwa kufaka imithamo yokwenziwa kukavithamini A kabili ngosuku, ukuhlinzeka ngokuvuselelwa kwamaseli, ngaleyo ndlela kuncishiswe amanxeba akhona esikhumbeni futhi kuvumele ukuhamba okukhulu. Izinga lokushisa lomzimba kufanele ligcinwe lilawulwa futhi isikhumba sifakwe amanzi. Ukuhambisa isikhumba emanzini, amanzi ne-glycerin noma ama-emollients asetshenziswa wedwa noma ahambisana nokwenziwa okuqukethe i-urea noma i-ammonia lactate, okumele isetshenziswe kathathu ngosuku. Qonda ukuthi ukwelashwa kwe-ichthyosis kufanele kwenziwe kanjani.

Ingabe likhona ikhambi?

IHarlequin ichthyosis ayinawo umuthi wokwelapha kepha ingane ingathola ukwelashwa ngemuva nje kokuzalwa kwi-ICU esanda kuzalwa ehlose ukunciphisa ukungakhululeki kwayo.

Inhloso yokwelashwa ukulawula izinga lokushisa nokugcoba isikhumba. Imithamo ye-vitamin A yokwenziwa iyenziwa futhi, kwezinye izimo, kungenziwa ukuhlinzwa kwe-autograft yesikhumba. Ngaphandle kobunzima, ngemuva kwezinsuku eziyi-10 ezinye izingane zikwazile ukunceliswa, kepha zimbalwa izingane ezifika onyakeni owodwa wokuphila.