Ingabe ingane yakho inalesi sifo sesikhumba esingavamile? Ake sixoxe nge-Harlequin Ichthyosis

Isikhumba sosana olusanda kuzalwa sivame ukuba bushelelezi futhi sithambile, akunjalo? Kodwa cabanga ngakho, ngezinye izikhathi ezinye izingane zizalwa zinezinkinga zesikhumba ezingavamile kakhulu, ezingathi sína. Esinye sazo ezingavamile, futhi ekuqaleni, isifo sesikhumba sibizwa ngokuthi i-Harlequin Ichthyosis. Ungase uzizwe ukhathazekile kancane uma uzwa ngalokhu, kodwa ake sixoxe ngakho ngokuningiliziwe nangokulula.

Iyini i-Harlequin Ichthyosis?

Kalula nje, i-Harlequin Ichthyosis yisifo sesikhumba esingavamile kakhulu esithinta izinsana ezisanda kuzalwa. Uma umntwana ezalwa nalesi simo, umzimba wakhe wonke umbozwe ngamapuleti esikhumba aqinile, aqinile, anamaxolo. Abukeka njengezingcezu ezimise okwedayimane. Lawa mapuleti aqinile kangangokuthi angaqhekeka futhi aqhekeke.

Lokhu kuqina kwesikhumba kungashintsha ngisho nesimo sobuso bomntwana. Izindawo ezifana nezindlebe, izinkophe, impumulo, nomlomo zingase zeluleke futhi zikhubazeke. Akukhona lokho kuphela, kodwa nokunyakaza kwamalungu kungase kuncishiswe, futhi kungase kube nzima nokudla nokuphefumula.

Isikhumba sethu sifana nesithiyo esivikelayo phakathi kwemizimba yethu nendawo esizungezile. Kodwa kulesi simo se-Harlequin Ichthyosis, lesi sivikelo esivikelayo siyaphazamiseka ngenxa yalezi zimo ezingavamile esikhumbeni somntwana. Bese, nansi izinkinga eziphakamayo:

• Kuba nzima ukulawula ukukhishwa kwamanzi emzimbeni.
• Izinga lokushisa lomzimba alikwazi ukugcinwa kahle.
• Amandla okulwa nezifo ayancipha.

Lokhu kwenza umntwana abe sengozini enkulu yokuphelelwa amanzi emzimbeni kanye nezifo eziyingozi empilweni emavikini ambalwa okuqala okuphila. Ngemva kwesikhathi sokuzalwa, lezo zingqimba ezijiyile ziyahlukana kancane kancane, zishiye ukubukeka okubomvu, okunamaqhubu esikhumbeni somntwana.

I-Harlequin Ichthyosis uhlobo olubi kakhulu lwe-ichthyosis yesifo sesikhumba. Kunezinhlobo ezingaphezu kuka-20 ezahlukene ze-ichthyosis. Izibonelo zifaka phakathi i-lamellar ichthyosis kanye ne-ichthyosis vulgaris. Esikhathini esidlule, izingane ezizalwa ne-Harlequin Ichthyosis zazinezinga eliphansi kakhulu lokusinda. Kodwa-ke, ngokwelashwa okuthuthukisiwe kanye nokunakekelwa kwezokwelapha okujulile, izingane zinethuba elikhulu kakhulu lokusinda ebuntwaneni nasebusheni.

Lesi sifo saziwa ngamanye amagama:

• "I-Autosomal recessive congenital ichthyosis — uhlobo lwe-harlequin ichthyosis"
• 'I-Harlequin baby syndrome'
• `Isibungu sikaHarlequin`
• `Ichthyosis congenita`
• `Ichthyosis fetalis`

Sivame kangakanani lesi simo?

Lesi yisimo esingavamile kakhulu. Ngisho nasezweni elifana ne-United States, lesi sifo sithinta cishe ingane eyodwa kwezingu-300,000 kuya ku-500,000 ezizalwayo.Lesi yisimo esingavamile ukubonwa eSri Lanka.

Ziyini izimpawu ze-Harlequin Ichthyosis?

Izingane ezine-Harlequin Ichthyosis zivame ukuzalwa ngaphambi kwesikhathi. Lapho zizalwa, imizimba yazo imbozwe yizingcwecwe ezijiyile, ezifana nepuleti. Isikhumba sijiyile kangangokuthi kwakheka imifantu ejulile phakathi kwezingcwecwe. Futhi, izinkophe nezindebe zomntwana ziphendulwa ngaphakathi ngenxa yesikhumba esinwebekayo. Isifuba nesisu kunwebeka kakhulu, okwenza kube nzima ukuphefumula nokudla.

Nazi ezinye izimpawu:

• Ukuba nekhala eliyisicaba.
• Izindlebe zibekwe njengokungathi zinamathele ekhanda.
• Izandla nezinyawo ziba zincane futhi zivuvuke.
• Ukuzwa okungavamile.
• Izifo zokuphefumula ezivame ukwenzeka.
• Ukwehla kokunyakaza kwamalunga.
• Ukushisa komzimba okuphansi.

Yini ebangela lokhu?

Imbangela eyinhloko ye-Harlequin Ichthyosis ukuguquka kwezakhi zofuzo ku-gene ebizwa ngokuthi i-ABCA12 . Le gene ye-ABCA12 iyala umzimba wethu ukuthi ukhiqize iphrotheni ebalulekile ekukhuleni kwamaseli esikhumba anempilo. Omunye wemisebenzi ebaluleke kakhulu yale phrotheni ukuhambisa amafutha aye engxenyeni engaphandle yesikhumba, i-epidermis, nokudala isithiyo esivikelayo.

Kubantu abanalesi sifo, umzimba ukhiqiza iphrotheni encane kakhulu noma awukhiqizi nhlobo iphrotheni ye-ABCA12. Lokhu kuphazamisa ukukhula okuvamile kwesikhumba, okuholela ezimpawini ezinzima.

Lesi simo sizuzwa njengefa ngendlela yokubuyisa i-autosomal. Kalula nje, lokhu kusho ukuthi ingane kumele izuze amakhophi amabili esakhi sofuzo esithintekile - esisodwa esivela kumama nesinye esivela kubaba. Bobabili abazali bangaba ngabathwali besakhi sofuzo esiguquliwe. Lokhu kusho ukuthi banesakhi sofuzo, kodwa ngokuvamile ababonisi izimpawu.

Yiziphi izinkinga ezingaba khona?

Izinkinga ze-Harlequin Ichthyosis zingahluka ngobukhulu. Ezinye zezinkinga zifaka:

• Ukukhula kwezinwele okunciphile.
• Ukukhubazeka kwezinzipho.
• Isikhumba sivame ukulunywa.
• Ubunzima bokubekezelela ukushisa nokubanda.
• Ukutheleleka kwesikhumba okuphindaphindiwe.
• Ukungalingani kwama-electrolyte emzimbeni.
• Ukuqina nokuqina kwemisipha, imisipha, isikhumba, nezinye izicubu.
• Ukucindezeleka kokuphefumula kanye nokwehluleka.
• I-Sepsis ukutheleleka okubangelwa amagciwane okungazelelwe futhi okunamandla.

Kwenziwa kanjani ukuxilongwa?

Ngokuvamile, odokotela bangakwazi ukuthola lesi simo lapho umntwana ezalwa ngokusekelwe ekubukekeni komzimba komntwana. Uma othile emndenini wake waba nalesi simo ngaphambili, ukuhlolwa kofuzo ngaphambi kokukhulelwa kungenziwa ngesikhathi sokukhulelwa.Odokotela bangase batuse ukuhlolwa kwezinguquko ku-ABCA12 gene. Futhi, ngezinye izikhathi ukuskena kwe-ultrasound okwenziwa phakathi nezinyanga zesibili nezesithathu zokukhulelwa kungathola izimpawu zalesi simo.

Yiziphi izindlela zokwelapha i-Harlequin Ichthyosis?

Lapho nje umntwana onalesi simo ezalwa, ungeniswa e-Neonatal Intensive Care Unit (NICU) . Lapho, umntwana ufakwa ku-incubator enomswakama ophezulu ukusiza ukulawula izinga lokushisa lomzimba wengane. Nansi indlela abahlengikazi abanakekela ngayo umntwana:

• Ukuncelisa njalo.
• Geza umzimba wakho njalo ukuze uthambise isikhumba futhi usize ekususeni amaxolo.
• Ukuze ususe amaxolo, ngezinye izikhathi hlikihla ngobumnene ngento efana netshe le-pumice noma isiponji esinolaka.
• Faka ama-moisturizer ukuze unciphise ukoma kwesikhumba futhi unikeze isikhumba ukuthamba.

Uma ingane yakho inesimo esibi se-Harlequin Ichthyosis, ungayilapha nge-retinoid yomlomo ebizwa ngokuthi i-etretinate . Lo muthi usiza ekususeni isikhumba esijiyile nesinamaqhubu. Ungasiza futhi ekunciphiseni izimpawu ezifana nokuba ndikindiki eminweni, ubunzima bokuphefumula, ukuqina kwesifuba, kanye nobunzima bokudla. Kodwa-ke, lawa ma-retinoid omlomo angabangela imiphumela emibi kakhulu uma esetshenziswa isikhathi eside, ngakho odokotela bawasebenzisa kuphela uma ingane yakho inezimpawu ezinzima.

Ukunakekelwa kwe-NICU (Iyunithi Yokunakekelwa Okujulile)

Ngesikhathi ingane yakho iseseyunithi yokunakekelwa okujulile kwezinsana (i-NICU), odokotela abangochwepheshe kanye nabasebenzi abahlengikazi baqapha ingane yakho eduze kakhulu. Bahlala beqapha izinga lokushisa komzimba, amazinga oketshezi, kanye nezimpawu zokutheleleka . Basebenzisa amabhandishi akhethekile namafutha okugcoba ukugcina isikhumba simanzi. Ngezinye izikhathi, ingane ingadinga ukunceliswa ngepayipi.

Imithi ekhethekile

Ngaphezu kwama-retinoids omlomo okukhulunywe ngawo ngenhla, uzodinga nama-antibiotic ukuvimbela ukutheleleka, imithi yokunciphisa ubuhlungu, kanye nama-creams ukunciphisa ukoma nokulunywa. Konke lokhu kufanele kusetshenziswe njengoba kuqondiswe udokotela wakho.

Iqembu lokwelashwa kwesikhathi eside

Ngisho noma ungayithatha ingane yakho uyise ekhaya ngemva kokuba izinhlayiya zesikhumba ezijiyile seziwile, usazodinga ukunakekelwa kwezokwelapha okuqhubekayo kanye nokunakekelwa. I-Harlequin Ichthyosis idinga usizo lwethimba lodokotela elihlanganisa imikhakha eminingi. Leli thimba lingafaka:

• Odokotela Bezingane Ezisanda Kuzalwa
• Odokotela besikhumba
• Odokotela abahlinzayo bepulasitiki
• Izazi zezakhi zofuzo
• Odokotela bamehlo
• Odokotela bamehlo (ochwepheshe bezindlebe, impumulo, nomphimbo)
• Abelaphi bomzimba
• Odokotela bamathambo
• Ochwepheshe bezokudla

Leli thimba lezokwelapha lisebenza ukuhlinzeka ingane ngokwelashwa okudingekayo kukho konke ukuphila kwayo.

Yini engingayilindela uma ingane yami inalesi simo?

I-Harlequin Ichthyosis yisifo esingamahlalakhona, okusho ukuthi sidinga ukunakekelwa impilo yonke. Ngakho-ke, kubalulekile ukuthola udokotela wesikhumba ochwepheshe kulesi simo. Lokhu kuzoqinisekisa ukuthi ingane yakho ithola ukwelashwa okudingekayo impilo yayo yonke. Kubalulekile futhi ukusungula inqubo yokunakekelwa kwesikhumba yansuku zonke ezosiza ukulawula noma yiziphi izinkinga zesikhumba (isikhumba esinamaxolo, esiqhekekile, nesilumayo). Le nqubo kuzodingeka ilandelwe impilo yayo yonke.

Ngaphezu kwezinkinga zesikhumba, iminwe nezinzwane zengane zingase zijiye futhi ziqine . Lokhu kungenza kube nzima ngaye ukubamba izinto. Futhi, amaqakala namadolo kungase kuqine, okwenza kube nzima ngaye ukuhamba. Kungase kube nokubambezeleka ekukhuleni nasekukhuleni komzimba kwengane . Kodwa-ke, intuthuko yengqondo kufanele yenzeke ngendlela evamile.

Ukunakekela ingane enjengalena kuyinselele, kodwa kubaluleke kakhulu ukwenza ngeseluleko sezokwelapha esifanele, uthando, kanye nesineke.

Iyini inhloso yalesi sifo?

Naphezu kokuthuthuka kokwelashwa kwe-Harlequin Ichthyosis, ngeshwa, ezinye izingane zisafa ngenxa yalesi simo. Kokunye ukuhlola, ama-44% ezingane ezizalwa nalesi simo afa. Izimbangela eziphambili zokufa ezinyangeni ezintathu zokuqala zokuphila kwakuyi-sepsis, ukwehluleka kokuphefumula, noma inhlanganisela yakho kokubili.

Kodwa-ke, ukwelashwa kusenesikhathi ngemithi efana nama-retinoids omlomo kuye kwabonakala kwandisa amazinga okusinda. Esifundweni esifanayo okukhulunywe ngaso ngaphambili, ama-83% ezinsana ezelashwa ngama-retinoids omlomo asinda.

Ingabe i-Harlequin Ichthyosis ingavinjelwa?

Lesi yisimo sofuzo futhi asinakuvinjelwa. Uma othile emndenini wakho enalesi simo, noma eke waba naso esikhathini esidlule, kungumqondo omuhle ukukhuluma nodokotela mayelana nokuhlolwa kofuzo noma ukwelulekwa ngofuzo . Lolo lwazi lungaba usizo lapho wenza izinqumo mayelana nokuba nomunye umntwana.

Ngingayinakekela kanjani ingane yami?

Uma ingane yakho inalesi simo, nansi ezinye izinto ongazinakekela:

• Funda kahle ngesimo sengane yakho. Funda imithombo ethembekile bese uzama ukuba uchwepheshe kulokhu.
• Gcina ingane iphilile ngangokunokwenzeka.Nikeza ukudla okunomsoco, qiniseka ukuthi bavivinya umzimba ngokwanele, futhi ubayise ekuhlolweni kwezokwelapha ngesikhathi.
• Thola okusebenzela ingane yakho. Ingane ngayinye ihlukile. Okusebenzela omunye umuntu kungase kungasebenzi komunye. Yakha isimiso sokunakekela isikhumba nsuku zonke esifanelana nezidingo zengane yakho.
• Cabanga ngendawo ezungezile ingane. Izimo zemvelo ezomile kakhulu, ezibandayo, noma ezishisayo, kanye "nokushisa komoya okuphoqelelwe," kungenza isikhumba sengane some kakhulu futhi sibe buthaka kakhulu. Lokhu kungathinta nenhlalakahle yengane iyonke.
• Gcina ikhithi yokunakekela isikhumba sakho. Hlala ugcina isikhwama esinezinto ingane yakho ezidingayo, njenge-sunscreen, amafutha okugcoba, kanye nemithi yokunciphisa ubuhlungu.
• Nika ingane yakho umthwalo wemfanelo. Kancane kancane, ingane yakho izofunda ukunakekela isikhumba sayo. Nika ingane yakho umthwalo wemfanelo wezidingo zayo zokunakekelwa kwesikhumba.
• Ebuntwaneni: Khuthaza ukunakekelwa kwesikhumba nokubeletha.

Imibuzo ebalulekile okufanele uyibuze udokotela wakho

Uma ingane yakho ine-Harlequin Ichthyosis, ungase ube nemibuzo eminingi. Nazi ezinye zemibuzo ongayibuza udokotela:

• Ingabe i-Harlequin Ichthyosis ibuhlungu?
• Kungani lokhu kuyingozi kakhulu kunezinye izinhlobo ze-ichthyosis?
• Yikuphi ukwelashwa okuncoma ingane yami?
• Ngingamsiza kanjani ingane yami ukuba iphile impilo evamile?
• Yiziphi izinto ezingabangela isimo sengane sibe sibi kakhulu futhi okufanele zigwenywe?
• Akungcono yini ukuthi ingane yami iphume elangeni?
• Yiziphi ezinye izinkinga noma izimo zempilo okufanele ngiziqaphele?
• Ngingayitholaphi inethiwekhi yokusekela enhle?

Ekugcineni, khumbula lokhu ! (Umyalezo Wokuya Ekhaya)

Kuvamile ukuzizwa wesaba futhi ushaqekile lapho uthola ukuthi ingane yakho inesifo esingavamile njenge-Harlequin Ichthyosis. Ungase uzizwe unesizungu futhi ungaqiniseki ukuthi wenzeni. Kodwa into ebaluleke kakhulu ukuthola odokotela abanolwazi ngalesi sifo. Bangasiza ingane yakho ukuthi iphathe lesi simo, futhi bakuqondise ekutholeni usizo nokusekelwa okudingayo.

Ukukhuluma nabanye abazali bezingane ezinezimo ezifanayo kungaba umthombo omkhulu wamandla. Ngokwabelana ngolwazi nezeluleko, ungathola izindlela zokusiza ingane yakho iphile kahle. Akulula ukubona ingane yakho iphila nesifo sesikhumba esingavamile, kodwa khumbula, kunezingane eziningi eziphila ngenjabulo nalezi zimo. Awuwedwa. Ngolwazi olufanele, ukwesekwa, nothando, ungabhekana nale nselele.

'I-Harlequin Ichthyosis, isifo sesikhumba esinofuzo, isimo sesikhumba esisanda kuzalwa, i-ABCA12 gene, i-ichthyosis, isithiyo sesikhumba, ukunakekelwa kwezingane ezisanda kuzalwa, ama-retinoids