Ngaba umntwana wakho uvuvukala ngequbuliso? Masithethe nge-'Hereditary Angioedema (HAE)'!

Ngaba wakha wambona umntwana wakho evuvukala ngequbuliso kwiindawo ezahlukeneyo zomzimba wakhe, ngamanye amaxesha ebusweni, ezandleni nasezinyaweni? Okanye ngaba umntwana wakho ubonisa iimpawu zokungakwazi ukuphefumla kunye neentlungu zesisu? Mhlawumbi kukho imeko engaqhelekanga kodwa ebalulekileyo emva kwezi mpawu. Namhlanje siza kuthetha ngenye yeemeko ezinjalo, ebizwa ngokuba yi-'Hereditary Angioedema (HAE). Ungakhathazeki, siza kuthetha ngale nto ngendlela elula onokuyiqonda.

Yintoni le `Hereditary Angioedema (HAE)`?

Ngamafutshane, i-`Heroditary Angioedema` (ekwaziwa ngokuba yi-`HAE` ngamafutshane) yimeko engaqhelekanga kakhulu, yemfuza (oko kuthetha ukuba inokudluliselwa kwizizukulwana ngezizukulwana). Ibangela ukudumba kwiindawo ezahlukeneyo zomzimba womntwana wakho. Oku kudumba kunokwenzeka kwiindawo ezibonakalayo ngaphandle, njengeengalo, imilenze, nobuso, okanye ngamanye amaxesha kwiindawo ezingabonakaliyo kuthi, njengezicubu zendlela yomoya yomntwana (inkqubo yokuphefumla) okanye inkqubo yokwetyisa (amathumbu) .

Ngoku usenokuba uzibuza ukuba kutheni oku kudumba kwenzeka. Oku kudumba kwenzeka kuba imithambo yegazi emincinci emzimbeni womntwana, ebizwa ngokuba yi-"Capillaries," ikhupha ulwelo kuyo ize iqokelele kwizicubu ezingqongileyo. Xa olu lwelo luqokelelana, lunokuthintela ukuhamba kwegazi okanye i-lymph kuyo. Kunzima ukuqikelela ukuba oku kudumba kunye neempawu ezinxulumene nako (ezibizwa ngokuba yi-"HAE attacks") kuya kwenzeka nini. Kwakhona, ngamanye amaxesha oku kunokuphela ngokudumba okuncinci, kodwa ngamanye amaxesha kunokuba nzima ngokwaneleyo ukuba kube yingozi ebomini.

Kwizonyango, igama elithi "angio" (`Angio-`) libhekisa kwimithambo yegazi. Igama elithi "Edema` (`-edema`) libhekisa ekudumbeni okubangelwa kukuqokelelana kolwelo kwizicubu. Kukho iintlobo ezininzi ze-`angioedema`, nganye inezizathu ezahlukeneyo. I-`HAE` yeyona inqabileyo kwezi. Ibizwa ngokuba yi-`congenital`, oko kuthetha ukuba umntu uzalwa enale meko.

Ukuba umntwana wakho ufunyaniswe ene-HAE, ungaziva ungaqinisekanga ngento omawuyilindele. Kodwa ukwazi oku kunokukunceda ukhululeke: Uphando luyaqhubeka malunga nonyango olutsha lwabantu bayo yonke iminyaka abane-HAE, kuquka nabantwana. Ugqirha wakho unokukunceda uqonde ukuba loluphi unyango olufanele umntwana wakho kunye nento omawuyilindele kwixesha elizayo.

Ngaba kukho iintlobo ze-'HAE'?

Ewe, nangona i-'HAE' iluhlobo lwe-'angioedema', oogqirha bahlula i-'HAE' ibe ziintlobo ezahlukeneyo:

• Uhlobo I HAE: Olu lolona hlobo luxhaphakileyo . Malunga ne-85% yazo zonke izigulana ze-HAE zinalo olu hlobo. Oku kubangelwa kukuba umzimba womntwana awuvelisi ngokwaneleyo iproteni ekhethekileyo ebizwa ngokuba yi-C1-inhibitor (ekwaziwa ngokuba yi-C1-INH). Xa le proteni ye-C1-INH iphantsi, ukudumba nokudumba kunokwenzeka emzimbeni. Oku kukwabizwa ngokuba kukusilela kwe-C1-INH.
• Uhlobo lwesibini lwe-HAE: Olu lolona hlobo lwesibini oluxhaphakileyo. Kwimeko enjalo, umzimba womntwana uvelisa iproteni ye-C1-INH, kodwa ayisebenzi kakuhle.
• I-HAE ene-C1-INH eqhelekileyo: Olu lolona hlobo lungaqhelekanga . Amanqanaba eprotheyini ye-C1-INH yomntwana kunye nomsebenzi wakhe ziqhelekile, kodwa ezinye izizathu zibangela ukudumba.

Iintlobo ezimbini zokuqala (uhlobo I kunye nohlobo lwesibini lwe-HAE) xa zidibene, zichaphazela malunga nomntu omnye kubantu abangama-50,000 . Oko kuthetha ukuba kwilizwe elifana ne-United States, malunga nabantu abangama-6,000 banesifo solu hlobo lwe-HAE. Abaphandi abazi kakuhle ukuba bangaphi abantu abane-HAE abanamanqanaba aqhelekileyo e-C1-INH, kodwa bathi ayiqhelekanga kakhulu.

Zithini iimpawu ze-HAE?

Iimpawu ze-HAE zinokwahluka kumntu nomntu. Ezinye zeempawu eziqhelekileyo ziquka:

• Ukudumba okubonakala kwiindawo ezahlukeneyo zomzimba womntwana, umzekelo , iingalo, imilenze, iinkophe, imilebe, kunye neendawo zangasese .
• Iimpawu zokudumba kwinkqubo yokwetyisa yomntwana (Indlela yesisu (GI). Oku kunokuquka isicaphucaphu, ukuhlanza, iintlungu zesisu, kunye norhudo .
• Iimpawu ezibangelwa kukudumba emlonyeni, emqaleni, nakwimibhobho yomoya yomntwana. Ezi zinokubandakanya ubunzima bokuginya, ulwimi oludumbileyo, isandi esirhabaxa xa ephefumla, kunye nokutshintsha kwelizwi .

Eyona nto ibalulekileyo: Ukuba umntwana wakho unengxaki yokuphefumla okanye yokuginya, fowunela igumbi likaxakeka elikufutshane okanye umse esibhedlele ngokukhawuleza. Ukudumba kweendlela zomoya yingxaki enkulu kakhulu, esongela ubomi ye-HAE. Inokuba yingozi ukuba ayinyangwa ngokukhawuleza.

I-HAE ayibangeli amaqhuqhuva. Lo ngumahluko ophambili phakathi kwe-HAE nezinye iintlobo ze-angioedema, ezifana ne-allergy angioedema ebukhali. Nangona kunjalo, abanye abantu abane-HAE banokuba namaqhuqhuva abomvu angarhawuzeliyo ngaphambi kokuba kuvele ukudumba, nto leyo enokuba luphawu lohlaselo oluzayo.

Uhlaselo lwe-'HAE' ludla ngokuthatha malunga neentsuku ezintathu ukuya kwezintlanu . Olu 'hlaselo' luza luze luphele ngequbuliso, ngoko ke kunzima ukutsho ngokuthe ngqo ukuba luza kwenzeka nini kwaye njani.

Ziqala nini iimpawu ze-HAE?

Iimpawu ze-HAE zihlala ziqala ebuntwaneni okanye ebusheni . Zinokuba nzima ngakumbi ngexesha lokufikisa. Abanye abantwana banokuqala ukuba neempawu beselula nje ngeminyaka emi-2 ubudala . Malunga nama-50% abantu abane-HAE type I okanye II babonakalisa iimpawu xa beneminyaka eli-10 ubudala. Emva kokufikisa, ezi ntlaselo zinokuba zixhaphake kakhulu kwaye zibe nzima. Phantse wonke umntu one-HAE type I okanye II uba neempawu xa eneminyaka engama-20 ubudala.

Abantu abane-HAE abanamanqanaba aqhelekileyo e-C1-INH badla ngokuba neempawu eziqala kancinci kancinci - ngesiqhelo xa besekwishumi elivisayo okanye xa sele bekhulile.

Zithini izinto ezibangela uhlaselo lwe-HAE?

Akusoloko kucaca ukuba yeyiphi kanye kanye ``i-trigger`` ebangela uhlaselo lwe-HAE. Nangona kunjalo, ezinye ze``i-trigger`` ezichongiweyo zezi:

• Ukwenzakala emzimbeni okanye ingozi encinci: Khawuthelekelele umntwana wakho ewa ngelixa edlala ngenye imini.
• Unyango lwamazinyo: Izinto ezifana nokukhupha izinyo okanye ukuligcwalisa.
• Utyando: Utyando , nokuba luncinci okanye lukhulu.
• Uxinzelelo okanye uxinzelelo lweemvakalelo: Uviwo lwesikolo okanye nokuba ngumlo omncinci nomhlobo kunokuba nefuthe.
• Usulelo lweentsholongwane: Izinto ezifana nomkhuhlane kunye nomkhuhlane.
• Eminye imisebenzi yomzimba: Umzekelo, izinto ezinjengokubhala ngokuqhubekayo, ukubetha ngesando, okanye ukumba ngekhuba.

Usenokungaqondi kwangoko ukuba yintoni ebangela ukuba umntwana wakho abe nohlaselo. Nangona kunjalo, kunokuba luncedo kakhulu ukugcina incwadi yexesha eyenzeka ngalo uhlaselo kunye nento umntwana awayeyenza ngelo xesha (umzekelo, nokuba umntwana wayegula okanye exinezelekile) .

Yintoni unobangela wokwenene we-HAE?

Zombini iintlobo ze-HAE I kunye nezesi-II zibangelwa kukuguquka (okanye utshintsho) kwi-gene ebizwa ngokuba yi-SERPING1. Le gene ixelela umzimba womntwana wakho indlela yokwenza iproteni ebizwa ngokuba yi-C1-INH. Ukuba umntwana wakho unohlobo lwe-HAE I, olu tshintsho lwe-gene luthetha ukuba umzimba wakhe awukwazi ukwenza i-C1-INH eyaneleyo. Ukuba umntwana wakho unohlobo lwe-HAE II, umzimba wakhe unokwenza i-C1-INH, kodwa utshintsho lwe-gene luthetha ukuba iproteni ayisebenzi kakuhle.

Abaphandi basaphanda izizathu ze-HAE ngamanqanaba aqhelekileyo e-C1-INH, kodwa bayazi ukuba utshintsho oluvela kwizakhi zofuzo ezilandelayo lunokuba negalelo:

• `F12`
• `ANGPT1`
• `I-PLG`
• `KNG1`

Kwezinye iimeko, i-HAE inokubakho ngaphandle kotshintsho oluchongiweyo lwemfuza. Oogqirha bakubiza oku ngokuthi "i-HAE-ayaziwa."

Utshintsho lwemfuza olubangela i-HAE lubangela ukuba iiproteni ezithile emzimbeni womntwana zingasebenzi kakuhle. Ezi proteni zinceda ulwelo luhambe ngokuqhelekileyo kwimithambo yegazi emincinci yomntwana (ii-capillaries). Ngoko ke, xa ezi proteni zingasebenzi kakuhle, ulwelo luyaphuma luze luqokelele kwizicubu ezijikeleze imithambo yegazi yomntwana. Yiyo loo nto ibangela iimpawu ze-HAE.

Ngaba i-HAE ivela kusapho?

Ewe, i-HAE ifunyanwa njengelifa kwi-autosomal dominant pattern. Ngamafutshane, ifuna i-gene enye engaqhelekanga ukuze ibangele le meko. Umntwana angayizuza le gene engaqhelekanga kumama okanye kuyise.

Abantu abaninzi abane-HAE banembali yentsapho yesi sifo. Nangona kunjalo, ngamanye amaxesha umntu unokuphuhlisa utshintsho lwezakhi zofuzo ngokungacwangciswanga ("de novo" okanye "new" mutation) ngaphandle kwembali yentsapho.

Oogqirha bayifumana njani le nto?

Ukuba umntwana wakho ubonisa iimpawu ze-HAE, ugqirha uya kwenza oku kulandelayo:

• Wenza uvavanyo lomzimba .
• Uza kubuzwa ngeempawu zomntwana wakho kunye nembali yakhe yezonyango.
• Uvavanyo lwegazi lwenziwa ukujonga inqanaba le-`C1-INH` lomntwana kunye nomsebenzi wakhe .
• Kwezinye iimeko, uvavanyo lwemfuza lwenziwa ukuze kubonwe ukuba kukho utshintsho lwemfuza olubangela i-HAE.

Ziziphi iindlela zonyango ze-HAE?

Kukho iintlobo ezimbini eziphambili zamayeza kubantu abane-HAE:

• Amayeza asetyenziswa xa umntu ewafuna: La ngamayeza anikwa ngokukhawuleza xa kuvela uhlaselo lwe-HAE. Umzekelo, amayeza afana neBerinert® okanye iKalbitor®. Ukusela la mayeza ngokukhawuleza emva kokuba iimpawu ziqalile kunokunciphisa ubunzima bohlaselo kwaye kuthintele iingxaki ezisongela ubomi.
• Amayeza okuthintela: La ngamayeza anciphisa umngcipheko wokuba nohlaselo. Imizekelo ibandakanya iCinryze®, iHaegarda®, okanye iTakhzyro®. Ugqirha angayalela la mayeza ukuba asetyenziswe ngexesha lesifo esaziwayo (njengokuya kugqirha wamazinyo), okanye ukusetyenziswa ixesha elide, kuxhomekeke kwiimfuno zomntwana wakho.

Ngokutsho kweengcali zonyango, amayeza asetyenziswa xa umntu ewafuna abalulekile kwaye ayasindisa ubomi. Nokuba umntwana wakho usebenzisa amayeza okuthintela ukukhulelwa, la mayeza asetyenziswa xa umntu ewafuna afanele afumaneke ngamaxesha onke, kuyo yonke indawo (ekhaya nasesikolweni).

Ugqirha uza kukuxelela ngokuthe ngqo ukuba zeziphi amayeza umntwana wakho awadingayo, indlela yokumnika, kwaye nini. Uza kuchaza nokuba zeziphi amayeza anokunikwa umntwana wakho ngokuxhomekeke kwiminyaka yakhe. Qiniseka ukuba ulandela imiyalelo ngqo, kwaye uqiniseke ukuba ubuza imibuzo ukuba kukho into ongaqinisekanga ngayo.

Ndingaphila ngokukhawuleza kangakanani emva konyango?

Ngamayeza afunekayo, umntwana wakho uya kuqala ukuziva ebhetele ngokukhawuleza ngexesha lohlaselo lwe-HAE. Iimpawu zakhe kufuneka ziphucuke kwimizuzu engama-30 ukuya kwiiyure ezimbini emva kokuqala unyango. Ugqirha wakho uya kukunika ulwazi oluthe kratya malunga nendlela yokulawula unyango ekhaya kunye noko unokukulindela.

Ungamnyamekela njani umntwana one-HAE?

Ungaziva ungenakunceda xa ubona umntwana wakho ehlaselwa yi-HAE. Nangona kunjalo, zininzi izinto onokuzenzela umntwana wakho ngaphambi, ngexesha, nasemva kohlaselo:

• Soloko ugcina amayeza xa uwafuna: La angasindisa ubomi. Ufanele ukwazi ukubona xa umntwana wakho ewafuna la mayeza. Ufanele wazi nendlela yokuwanika. Ugqirha wakho uza kukuxelela okungakumbi ngale nto.
• Musa ukunyanga uhlaselo lwe-HAE njengento ebangela ukunganyamezelani komzimba: Amayeza anjenge-antihistamines kunye ne-epinephrine, adla ngokunikezelwa ngenxa yokunganyamezelani komzimba, awayi kunceda uhlaselo lwe-HAE. Ngoko ke, musa ukunika umntwana wakho la mayeza.
• Qaphela izinto ezinokubangela uhlaselo: Izinto ezibangela uhlaselo ziyahluka kumntu nomntu. Yenza uluhlu lwezinto ezinokubangela uhlaselo kumntwana wakho kwaye wabelane ngalo nogqirha wakho. Zama ukugcina umntwana wakho kude nezo zinto ezibangela uhlaselo kangangoko kunokwenzeka. Ukuba awukwazi ukuziphepha, buza ugqirha wakho ngamayeza okuthintela uhlaselo.

Udinga nini ukubona ugqirha?

Bona ugqirha kwezi meko zilandelayo:

• Ukuba ucinga ukuba umntwana wakho uneempawu ze-'Hereditary Angioedema'.
• Ukuba kuvela iimpawu ezintsha ezinxulumene nohlaselo lwe-HAE, okanye ukuba iimpawu ezikhoyo ziyatshintsha.
• Ukuba amayeza omntwana wakho abonakala engasebenzi njengoko bekulindelwe.

Kufuneka uye nini kwigumbi likaxakeka?

Ukuba umntwana wakho ufumana nayiphi na kwezi zinto zilandelayo , yiya kwigumbi likaxakeka ngokukhawuleza:

• Ukuba kunzima ukuginya.
• Ukuba unengxaki yokuphefumla.
• Ukuba ubona naziphi na iimpawu zokudumba kolwimi okanye umqala (nokuba unikwe amayeza xa iimpawu zokuqala zohlaselo zibonakala).

Ezi zinokuba ziimpawu zokudumba okuyingozi okuchaphazela indlela yomoya yomntwana wakho. Musa ukulibazisa ukufuna unyango. Oku kudumba kunokuba yingozi ebomini.

Yeyiphi imibuzo omele uyibuze ugqirha?

Ungabuza ugqirha imibuzo efana nale:

• Luhlobo luni lwe-HAE umntwana wam analo?
• Ucebisa luphi unyango?
• Ndingazi njani xa umntwana wam edinga amayeza xa efuneka?
• Ngaba umntwana wam udinga amayeza okuthintela? Ukuba kunjalo, nini?
• Ngaba kukho naziphi na izinto okanye iimeko umntwana wam afanele aziphephe?
• Ungathini ngekamva lomntwana wam (imbono yakhe)?

Singaba nethemba njani ngomntwana one-HAE?

I-HAE yimeko ehlala ubomi bonke. Nangona kunjalo, unyango lunokunciphisa impembelelo yesi sifo kubomi bomntwana. Lunokunciphisa nomngcipheko weempawu ezisongela ubomi, ezifana nokudumba kweendlela zomoya zomntwana.

Ngaba i-HAE ingathintelwa?

Okwangoku akukho ndlela eyaziwayo yokuthintela i-HAE. Ukuba wena okanye iqabane lakho line-HAE kwaye nizama ukuba nomntwana,Kungcono ukuthetha nomcebisi wezemfuza ukuze uqonde amathuba okuba umntwana wakho afumane esi sifo njengelifa.

Umyalezo obalulekileyo kuwe.

Xa ufumanisa ukuba umntwana wakho unesimo semfuza esifana ne-HAE, unokuziva uneemvakalelo ezahlukeneyo: uloyiko, ixhala, ukudideka, kunye nokukhungatheka. Usenokude uzibeke ityala. Kodwa eyona nto ibalulekileyo ekufuneka uyazi kukuba olu xilongo alulotyala lakho.

Utshintsho lwemfuza luyenzeka rhoqo, rhoqo ngaphandle kwesizathu esicacileyo. Awunakulawula iimfuza ezizuzwa ngumntwana wakho. Kodwa ungadlala indima ebalulekileyo ekunyamekeleni umntwana wakho – ngamanye amaxesha kukumqinisekisa nje ukuba “uza kuphila.”

Kunganceda nokujoyina amaqela enkxaso yezigulane. Ukuthetha nabazali babantwana abane-HAE, kunye nabantu abadala abanale meko, kunokukunika iingcebiso kunye nokumamela. Kungakukhumbuza nokuba nangona i-HAE inqabile, usapho lwakho alulodwa.

I- Angioedema efunyenwe kwilifa, i-HAE, ukudumba, i-C1 inhibitor, izifo zemfuza, ukudumba ebantwaneni, i-angioedema