Ingaba umntwana wakho unale sifo solusu esingaqhelekanga? Masithethe ngeHarlequin Ichthyosis

Ulusu losana olusandul’ ukuzalwa ludla ngokuba bushelelezi kwaye luthambile, akunjalo? Kodwa khawucinge nje, ngamanye amaxesha abanye abantwana bazalwa beneengxaki zolusu ezingaqhelekanga, ezinzulu kancinci. Esinye sezifo zolusu ezingaqhelekanga, kwaye xa uqala ukuzijonga, sibizwa ngokuba yiHarlequin Ichthyosis. Usenokuziva ukhathazekile kancinci xa usiva ngale nto, kodwa masithethe ngayo ngokweenkcukacha nangokulula.

Yintoni iHarlequin Ichthyosis?

Ngamafutshane, iHarlequin Ichthyosis sisifo solusu esingaqhelekanga esichaphazela iintsana ezisandul’ ukuzalwa. Xa umntwana ezalwa enale meko, umzimba wakhe wonke ugqunywe ziipleyiti zesikhumba eziqinileyo, eziqinileyo nezinamaxolo. Zifana neziqwenga ezimile okwedayimani. Ezi pleyiti ziqinile kangangokuba zinokuqhekeka kwaye zixobuke.

Oku kuqina kolusu kunokutshintsha nokuma kobuso bomntwana. Iindawo ezifana neendlebe, iinkophe, impumlo, nomlomo zinokolulwa kwaye zigule. Akupheleli apho, kodwa iintshukumo zamalungu zinokuncipha, kwaye kunokuba nzima nokutya nokuphefumla.

Ulusu lwethu lufana nomqobo okhuselayo phakathi kwemizimba yethu kunye nokusingqongileyo. Kodwa kule meko yeHarlequin Ichthyosis, lo mqobo okhuselayo uyaphazamiseka ngenxa yezi ngxaki eluswini lomntwana. Emva koko, nazi iingxaki ezivelayo:

• Kuba nzima ukulawula ukukhutshwa kwamanzi emzimbeni.
• Ubushushu bomzimba abunakugcinwa kakuhle.
• Amandla okulwa nosulelo ayancipha.

Oku kwenza umntwana abe sesichengeni sokuphelelwa ngamanzi emzimbeni kunye nosulelo olunzima nolusongela ubomi kwiiveki ezimbalwa zokuqala zobomi. Emva kwexesha lokuzalwa, ezo layer zityebileyo ziyaqhekeka kancinci kancinci, zishiya imbonakalo ebomvu nerhabaxa kulo lonke ulusu lomntwana.

I-Harlequin Ichthyosis lolona hlobo lubi kakhulu lwesifo sesikhumba i-ichthyosis. Kukho iintlobo ezingaphezu kwama-20 ezahlukeneyo ze-ichthyosis. Imizekelo ibandakanya i-lamellar ichthyosis kunye ne-ichthyosis vulgaris. Ngaphambili, iintsana ezizelwe ne-Harlequin Ichthyosis zazinomlinganiselo ophantsi kakhulu wokusinda. Nangona kunjalo, ngonyango oluphambili kunye nonyango olunzulu, iintsana zinethuba eliphezulu lokusinda ebuntwaneni nasebusheni.

Esi sifo saziwa ngamanye amagama:

• ``I-Autosomal recessive congenital ichthyosis — uhlobo lwe-harlequin ichthyosis''
• `Isifo somntwana sikaHarlequin`
• `Isibeleko sikaHarlequin`
• `Ichthyosis congenita`
• `Ichthyosis fetalis`

Ixhaphake kangakanani le meko?

Le yimeko engaqhelekanga kakhulu. Kwanakwilizwe elifana ne-United States, esi sifo sichaphazela malunga nesinye kwiintsana ezingama-300,000 ukuya kuma-500,000 ezizalwayo.Le yimeko engaqhelekanga kakhulu eSri Lanka.

Ziziphi iimpawu zeHarlequin Ichthyosis?

Iintsana ezine-Harlequin Ichthyosis zihlala zizalwa ngaphambi kwexesha. Xa zizalwa, imizimba yazo igqunywe ngamaxolo aqinileyo, afana nepleyiti. Ulusu luqinile kangangokuba imingxunya enzulu iyakheka phakathi kwamaxolo. Kwakhona, iinkophe kunye nemilebe yomntwana zijikwa ngaphakathi ngenxa yolusu olunwebekayo. Isifuba nesisu zinwebeka ngokuqinileyo, nto leyo eyenza kube nzima ukuphefumla nokutya.

Nazi ezinye iimpawu:

• Ukuba nempumlo ethe tyaba.
• Iindlebe zibekwe ngokungathi zinamathele entloko.
• Izandla neenyawo ziba ncinci kwaye zidumbe.
• Ukuva okungaqhelekanga.
• Iintsholongwane zokuphefumla ezixhaphakileyo.
• Ukuncipha kokuhamba kwamalungu.
• Ubushushu bomzimba obuphantsi.

Yintoni ebangela oku?

Eyona nto ibangela iHarlequin Ichthyosis kukuguquka kwezakhi zofuzo kwi-gene ebizwa ngokuba yi-ABCA12 . Le gene ye-ABCA12 iyalela umzimba wethu ukuba uvelise iproteni ebalulekileyo ekukhuleni kweeseli zolusu ezisempilweni. Omnye wemisebenzi ebaluleke kakhulu yale proteni kukuthutha ii-lipids ziye kumaleko angaphandle kolusu, i-epidermis, kunye nokudala umqobo okhuselayo.

Kubantu abanesi sifo, umzimba uvelisa iproteni encinci kakhulu okanye awuvelisi kwaphela i-ABCA12. Oku kuphazamisa uphuhliso oluqhelekileyo lwe-epidermis, nto leyo ekhokelela kwiimpawu eziqatha.

Le meko izuzwe njengelifa ngendlela ye-autosomal recessive. Ngamafutshane, oku kuthetha ukuba umntwana kufuneka azuze iikopi ezimbini ze-gene echaphazelekayo - enye evela kumama kunye nenye evela kutata. Bobabini abazali banokuba ngabathwali be-gene eguquliweyo. Oku kuthetha ukuba bane-gene, kodwa bahlala bengabonakalisi zimpawu.

Ziziphi iingxaki ezinokubakho?

Iingxaki zeHarlequin Ichthyosis zingahluka ngobukhulu. Ezinye zeengxaki ziquka:

• Ukukhula kweenwele okunciphileyo.
• Ukukhubazeka kwezikhonkwane.
• Ulusu ludla ngokurhawuzelelwa.
• Ubunzima bokunyamezela ubushushu nokubanda.
• Usulelo oluphindaphindayo lolusu.
• Ukungalingani kwe-electrolyte emzimbeni.
• Ukuqina nokuqina kwezihlunu, imisipha, ulusu, nezinye izicubu.
• Ukuphazamiseka kokuphefumla kunye nokungaphumeleli.
• I-Sepsis lusulelo olubangelwa yibhaktiriya ngequbuliso, olunzima.

Yenziwa njani le nto yokuxilonga?

Amaxesha amaninzi, oogqirha banokuxilonga imeko ekuzalweni kwabo ngokusekwe kwinkangeleko yomzimba yomntwana. Ukuba kukho umntu kusapho okhe waba nale meko ngaphambili, uvavanyo lwemfuza ngaphambi kokukhulelwa lunokwenziwa ngexesha lokukhulelwa.Oogqirha banokucebisa ukuba kuvavanywe utshintsho kwi-ABCA12 gene. Kwakhona, ngamanye amaxesha ii-ultrasound scans ezenziwa ngexesha lesibini nelesithathu trimesters zokukhulelwa zinokubona iimpawu zesifo.

Ziziphi iindlela zonyango lweHarlequin Ichthyosis?

Kwangoko nje umntwana onesi simo ezelwe, ungeniswa kwiYunithi yoKhathalelo oluNzulu lweZifo eziSandulelayo (i-NICU) . Apho, umntwana ufakwa kwi-incubator enomswakama ophezulu ukunceda ukulawula ubushushu bomzimba womntwana. Nantsi indlela abahlengikazi abamnyamekela ngayo umntwana:

• Ukuncancisa rhoqo.
• Hlamba umzimba wakho rhoqo ukuze uthambise ulusu kwaye uncede ekususeni amaxolo.
• Ukuze ususe amaxolo, maxa wambi hlikihla kancinci ngento efana nelitye lepumice okanye isiponji esirhabaxa.
• Faka izithambisi-mafutha ukunciphisa ukoma kolusu kwaye unike ulusu ukuqina.

Ukuba umntwana wakho unemeko enzima yeHarlequin Ichthyosis, ungayinyanga nge-retinoid yomlomo ebizwa ngokuba yi-etretinate . Eli yeza linceda ukususa ulusu oluqinileyo nolunamaxolo. Linokunceda ekunciphiseni iimpawu ezifana nokungaziva mnandi kwiminwe, ubunzima bokuphefumla, ukuqina kwesifuba, kunye nobunzima bokutya. Nangona kunjalo, ezi retinoids zomlomo zinokubangela iziphumo ebezingalindelekanga xa zisetyenziswa ixesha elide, ngoko oogqirha bayazisebenzisa kuphela ukuba umntwana wakho uneempawu ezimbi.

Ukhathalelo lwe-NICU (iYunithi yoKhathalelo oluNzulu)

Ngelixa umntwana wakho ekwiyunithi yokhathalelo oluphezulu lweentsana (i-NICU), oogqirha abaziingcali kunye nabasebenzi bomongikazi bajonga umntwana wakho ngononophelo olukhulu. Bahlala bejonga ubushushu bomzimba, amanqanaba olwelo, kunye neempawu zosulelo . Basebenzisa iibhanti ezikhethekileyo kunye namafutha okugcoba ukugcina ulusu lumanzi. Ngamanye amaxesha, umntwana unokufuna ukondliwa ngetyhubhu.

Amayeza akhethekileyo

Ukongeza kwi-retinoids zomlomo ezikhankanyiweyo apha ngasentla, uya kufuna nee-antibiotics ukuthintela usulelo, izithomalalisi zentlungu, kunye neekhrimu zokunciphisa ukoma kunye nokurhawuzelela. Zonke ezi zinto mazisetyenziswe njengoko ugqirha wakho eyalele.

Iqela lonyango lwexesha elide

Nangona ungamsa umntwana wakho ekhaya emva kokuba amaqhekeza esikhumba atyebileyo ewile, usaya kufuna unyango oluqhubekayo kunye nengqalelo. I-Harlequin Ichthyosis ifuna uncedo lweqela loogqirha abanolwazi oluninzi. Eli qela lingabandakanya:

• Iingcali zeentsana ezisandul’ ukuzalwa
• Iingcali zesikhumba
• Iingcali zotyando lweplastiki
• Iingcali zemfuza
• Iingcali zamehlo
• Iingcali ze-Otolaryngologists (iingcali zeendlebe, impumlo, kunye nomqala)
• Iingcali zonyango lomzimba
• Iingcali zamathambo
• Iingcali zezondlo

Eli qela lezonyango lisebenza ukubonelela umntwana ngonyango olufunekayo ubomi bakhe bonke.

Ndingalindela ntoni ukuba umntwana wam unale meko?

I-Harlequin Ichthyosis yimeko engapheliyo, oko kuthetha ukuba ifuna ukhathalelo lobomi bonke. Ngoko ke, kubalulekile ukufumana ugqirha wesikhumba ojongene nale meko. Oku kuya kuqinisekisa ukuba umntwana wakho ufumana unyango oluyimfuneko ubomi bakhe bonke. Kubalulekile nokumisela inkqubo yokhathalelo lolusu yemihla ngemihla eya kunceda ukulawula naziphi na iingxaki zolusu (ulusu olunamaxolo, oluqhekekileyo, nolurhawuzelelwayo). Le nkqubo iya kufuneka ilandelwe ubomi bakhe bonke.

Ukongeza kwiingxaki zolusu, iminwe neenzwane zomntwana zinokuba nkulu kwaye ziqine . Oku kunokwenza kube nzima kuye ukubamba izinto. Kwakhona, amaqatha namadolo anokuba lukhuni, nto leyo enokwenza kube nzima kuye ukuhamba. Kunokubakho ukulibaziseka ekukhuleni nasekuphuhleni komzimba komntwana . Nangona kunjalo, uphuhliso lwengqondo kufuneka lwenzeke ngokwesiqhelo.

Ukunyamekela umntwana onje ngumceli mngeni, kodwa kubaluleke kakhulu ukwenza izinto ngengcebiso efanelekileyo yezonyango, uthando, nomonde.

Iyintoni imbonakalo yesi sifo?

Nangona kukho inkqubela phambili kunyango lweHarlequin Ichthyosis, ngelishwa, ezinye iintsana zisafa ngenxa yesi sifo. Kolunye uphando, ama-44% eentsana ezizelwe zinesi sifo zafa. Izizathu eziphambili zokufa kwiinyanga ezintathu zokuqala zobomi yayiyi-sepsis, ukusilela kokuphefumla, okanye zombini ezi zinto.

Nangona kunjalo, unyango lwasekuqaleni ngamayeza afana nee-retinoids zomlomo luye lwabonisa ukuba luyawonyusa amazinga okusinda. Kuphononongo olufanayo olukhankanyiweyo ngaphambili, ama-83% eentsana ezinyangwe ngee-retinoids zomlomo zasinda.

Ngaba iHarlequin Ichthyosis ingathintelwa?

Le yimeko yemfuza kwaye ayinakuthintelwa. Ukuba kukho umntu kusapho lwakho onale meko, okanye ukhe waba nayo ngaphambili, kulungile ukuthetha nogqirha malunga novavanyo lwemfuza okanye ingcebiso yemfuza . Elo lwazi linokuba luncedo xa usenza izigqibo malunga nokuba nomnye umntwana.

Ndingamnyamekela njani umntwana wam?

Ukuba umntwana wakho unale meko, nazi ezinye izinto onokumnceda ngazo:

• Funda kakuhle ngemeko yomntwana wakho. Funda imithombo ethembekileyo uze uzame ukuba yingcali kule nto.
• Gcina umntwana esempilweni kangangoko.Banike ukutya okunesondlo, qiniseka ukuba bayazilolonga ngokwaneleyo, kwaye ubayise kuvavanyo lwezonyango kwangethuba.
• Fumana into elungele umntwana wakho. Wonke umntwana wahlukile. Into elungele omnye umntu isenokungasebenzi komnye. Yenza inkqubo yokunyamekela ulusu yemihla ngemihla efanela iimfuno zomntwana wakho.
• Cinga ngendawo umntwana ahlala kuyo. Iimeko zomoya ezomileyo kakhulu, ezibandayo, okanye ezishushu kakhulu, kunye "nobushushu bomoya obunyanzeliswayo," zinokwenza ulusu lomntwana lome ngakumbi kwaye lube buthathaka ngakumbi. Oku kunokuchaphazela impilo-ntle yomntwana iyonke.
• Gcina ikhithi yokhathalelo lolusu lwakho. Soloko ugcina ibhegi enezinto umntwana wakho azidingayo, ezifana ne-sunscreen, i-ointment, kunye ne-painkillers.
• Nika umntwana wakho uxanduva. Kancinci kancinci, umntwana wakho uya kufunda indlela yokunyamekela ulusu lwakhe. Nika umntwana wakho uxanduva lweemfuno zakhe zokhathalelo lolusu.
• Kwasebuntwaneni: Khuthaza ukhathalelo lwesikhumba nolusu kunye nokuncancisa.

Imibuzo ebalulekileyo yokubuza ugqirha wakho

Ukuba umntwana wakho uneHarlequin Ichthyosis, usenokuba nemibuzo emininzi. Nazi ezinye zemibuzo onokumbuza ugqirha:

• Ngaba iHarlequin Ichthyosis ibuhlungu?
• Kutheni oku kuqatha ngakumbi kunezinye iintlobo ze-ichthyosis?
• Luluphi unyango olucebisa umntwana wam?
• Ndingamnceda njani umntwana wam aphile ubomi obuqhelekileyo?
• Ziziphi izinto ezinokubangela ukuba imeko yomntwana ibe mandundu kwaye kufuneka ziphetshwe?
• Akungcono na ukuba umntwana wam aphume elangeni?
• Zeziphi ezinye iingxaki okanye iimeko zempilo ekufuneka ndiziqaphele?
• Ndingayifumana phi inethiwekhi yenkxaso elungileyo?

Okokugqibela, khumbula oku ! (Umyalezo oya nawo ekhaya)

Kuqhelekile ukuziva usoyika kwaye wothukile xa ufumanisa ukuba umntwana wakho unesifo esingaqhelekanga esifana neHarlequin Ichthyosis. Usenokuziva uwedwa kwaye ungaqinisekanga ngento omawuyenze. Kodwa eyona nto ibalulekileyo kukufumana oogqirha abanolwazi ngesi sifo. Banokunceda umntwana wakho ukuba alawule esi sifo, kwaye bakukhokele ekufumaneni uncedo nenkxaso oyifunayo.

Ukuthetha nabanye abazali babantwana abanezimo ezifanayo kunokuba ngumthombo omkhulu wamandla. Ngokwabelana ngamava neengcebiso, ungafumana iindlela zokunceda umntwana wakho aphile kakuhle. Akulula ukubona umntwana wakho ephila nesifo solusu esingaqhelekanga, kodwa khumbula, baninzi abantwana abaphila kamnandi nezi meko. Awuwedwa. Ngolwazi olufanelekileyo, inkxaso, nothando, ungajongana nalo mceli mngeni.

"I-Harlequin Ichthyosis, isifo solusu esibangelwa yimfuza, imeko yolusu olusandula ukuzalwa, i-ABCA12 gene, i-ichthyosis, isithintelo solusu, ukhathalelo lweentsana ezisandula ukuzalwa, ii-retinoids