IHarlequin ichthyosis: iimpawu, isifo kunye nonyango

Umxholo

• Iimpawu zeHarlequin Ichthyosis
• Uxilongo lwenziwa njani
• Unyango lweHarlequin Ichthyosis
• Ngaba likhona unyango?

I-Harlequin ichthyosis sisifo esinqabileyo nesinzulu semfuza esibonakaliswa kukuqina kwesakhelo sekeratin esenza ulusu lomntwana, ukuze ulusu lutyebe kwaye lunotyekelo lokutsala nolule, lubangela ukukhubazeka ebusweni nasemzimbeni wonke kwaye luzise iingxaki yomntwana, njengokuphefumla nzima, ukondla kunye nokuthatha amayeza.

Ngokubanzi, iintsana ezizalwe zine-harlequin ichthyosis zifa kwiiveki ezimbalwa emva kokuzalwa okanye zisinde kwiminyaka eyi-3 ubuninzi, kuba ulusu luneentanda ezininzi, umsebenzi wokukhusela ulusu uphazamisekile, unethuba elikhulu lokosuleleka kwakhona.

Oonobangela be-harlequin ichthyosis abakaqondwa ngokupheleleyo, kodwa abazali abazidlayo banamathuba okuba babe nosana olunje. Esi sifo asinyangi, kodwa kukho iindlela zonyango ezinokunceda ukunciphisa iimpawu kunye nokunyusa ixesha lokuphila kosana.

Iimpawu zeHarlequin Ichthyosis

Usana olusandul 'ukuzalwa olune-harlequin ichthyosis lubonisa ulusu ligqunywe lilitye elingqindilili, eligudileyo nelilulaza elinokuthi lonakalise imisebenzi eliqela. Ezona mpawu ziphambili zesi sifo zezi:

• Ulusu olomileyo nolunamaxolo;
• Ubunzima bokutya kunye nokuphefumla;
• Ukuqhekeka kunye namanxeba eluswini, oluthanda ukwenzeka kosulelo olwahlukeneyo;
• Iziphene kumalungu obuso, anjengamehlo, impumlo, umlomo kunye neendlebe;
• Ukungasebenzi kwedlala;
• Ukudakumba okuphezulu emzimbeni kunye nokuphazamiseka kwe-electrolyte;
• Ukukhupha ulusu emzimbeni wonke.

Ukongeza, ulusu olungqindilili lunokugquma iindlebe, lingabonakali, ukongeza ekuyekeleleni iminwe kunye neenzwane kunye nepiramidi yempumlo. Ulusu olujiyileyo lwenza ukuba kube nzima ukuba usana luhambe, luhleli intshukumo eguqukayo.

Ngenxa yokonakala komsebenzi wokukhusela ulusu, kuyacetyiswa ukuba olu sana luthunyelwe kwiCandelo loNonophelo lwaBantwana abaNzima (i-ICU Neo) ukuze lukhathalelwe ukuze kuthintelwe iingxaki. Qonda ukuba isebenza njani i-ICU yeentsana.

Uxilongo lwenziwa njani

Ukuchongwa kweHarlequin ichthyosis kunokwenziwa kukhathalelo lwangaphambi kokubeleka ngeemviwo ezinje nge-ultrasound, ehlala ibonisa umlomo ovulekileyo, isithintelo sentshukumo yokuphefumla, utshintsho lwempumlo, izandla ezihlala zilungisiwe okanye zicandekile, okanye ngohlalutyo lwe-amniotic fluid okanye i-biopsy. kolusu olungekazalwa olunokwenziwa kwiiveki ezingama-21 okanye ezingama-23 zokumitha.

Ukongeza, ingcebiso ngemfuzo inokwenziwa ukuze kuqinisekiswe ithuba lokuzalwa komntwana kwesi sifo ukuba abazali okanye izalamane bazisa uhlobo olujongene nesi sifo. Ingcebiso ngemfuza kubalulekile kubazali nakusapho ukuba basiqonde esi sifo kunye nokhathalelo ekufuneka beluthathile.

Unyango lweHarlequin Ichthyosis

Unyango lwe-harlequin ichthyosis ijolise ekunciphiseni ukungonwabi kosana olusandul 'ukuzalwa, ukunciphisa iimpawu, ukuthintela usulelo kunye nokunyusa ixesha lokuphila kosana. Unyango kufuneka lwenziwe esibhedlele, kuba ulusu luthanda ukosuleleka ziintsholongwane, ezenza ukuba isifo sibe sibi ngakumbi kwaye sibe nzima.

Unyango lubandakanya iidosi zovithamini A owenziwe kabini ngemini, ukubonelela ngokuhlaziywa kweseli, ngaloo ndlela kuncitshiswa amanxeba akhoyo kulusu kunye nokuvumela ukuhamba okukhulu. Ubushushu bomzimba kufuneka bugcinwe phantsi kolawulo kwaye ulusu lufakwe amanzi. Ukucoca ulusu, amanzi kunye ne-glycerin okanye i-emollients zisetyenziswa zodwa okanye zinxulunyaniswa nemixube ene-urea okanye i-ammonia lactate, ekufuneka isetyenziswe kathathu ngemini. Qonda ukuba unyango lwe-ichthyosis kufuneka lwenziwe njani.

Ngaba likhona unyango?

IHarlequin ichthyosis ayinalo unyango kodwa umntwana unokufumana unyango kanye emva kokuzalwa kwi-ICU ye-neonatal ejolise ekunciphiseni ukungonwabi kwakhe.

Injongo yonyango kukulawula ubushushu kunye nokuhambisa isikhumba. Imithamo ye-vitamin A yokwenziwa ilawulwa kwaye, kwezinye iimeko, kwenziwa utyando lwe-autograft yolusu. Ngaphandle kobunzima, emva kweentsuku ezili-10 ezinye iintsana zikwazile ukuncanciswa, kodwa ke zimbalwa iintsana ezifikelela kunyaka omnye wobomi.