Ingaba umntwana wakho omncinci uhlala egula? Isenokuba yi-SCID (Severe Combined Immunodeficiency)! Makhe sithethe ngayo!

Ngaba umntwana wakho omncinci uhlala egula? Ngaba esinye isifo siyaphola ngaphambi kwesinye? Ngamanye amaxesha oku kuqhelekile, kodwa kunokubangelwa yimeko engaqhelekanga kodwa enzulu kakhulu. Yiyo loo nto i-SCID (Severe Combined Immunodeficiency) . Makhe sithethe ngale nto ngokweenkcukacha namhlanje, akunjalo? Ungakhathazeki, kubaluleke kakhulu ukuqaphela oku.

Yintoni i-SCID (Severe Combined Immunodeficiency)? Masiyiqonde ngokulula.

Ngamafutshane, i-SCID sisifo esingaqhelekanga kakhulu, esingaqhelekanga semfuza esichaphazela abantu abambalwa kakhulu. Sibangela ukuba inkqubo yomzimba yethu yokulwa nesifo ingasebenzi kakuhle. Inokuba yimeko enzima kakhulu.

Oku sikubiza ngokuba 'kukunqongophala komzimba okuyintloko'. Ezinye iincwadi zikwabiza ngokuba 'yimpazamo yokuzalwa yokungakhuseleki komzimba'. Oko kukuthi, yinto ekhoyo ukususela kumhla wokuzalwa kwaye inokudluliselwa kwizizukulwana ngezizukulwana. Utshintsho olwahlukeneyo lwemfuza lunokubangela le meko ye-SCID.

Khawucinge nje, nakwilizwe elifana neMelika, ukuba kuzalwa abantwana abamalunga nama-58,000 minyaka le, ngomnye kuphela kubo oza kuba nale meko ibizwa ngokuba yi-SCID (Severe Combined Immunodeficiency). Ungacinga ukuba kunqabile kangakanani oko.

Kwenzeka ntoni ngaphakathi komntwana one-SCID?

Ukuze sikuqonde oku, kufuneka siqale sijonge indlela esebenza ngayo inkqubo yomzimba wethu yokuzikhusela, umkhosi olwa nezifo.

Khawucinge nje, xa umntwana esesiswini sikanina, umkhosi weeseli ezilwa nezifo uqala ukwakheka emzimbeni wakhe. Ikomkhulu lalo mkhosi yi -bone morrow . Kukho iiseli ezikhethekileyo apho, esizibiza ngokuba ' ziiseli ze-stem ' . Ezi seli ze-stem zinokwenza zonke iintlobo ezintathu eziphambili zeeseli zegazi:

• Iiseli ezibomvu zegazi: Ezi zezona zithwala ioksijini emzimbeni wonke.
• Iiseli zegazi ezimhlophe : La ngamajoni asemzimbeni wethu asikhusela kwizifo.
• Iiplatelets : Ezi zinceda ekuqhekekeni kwegazi.

Ngoku, phakathi kwezi seli zimhlophe zegazi, kukho iqela elikhethekileyo elibizwa ngokuba yi-'lymphocytes' . Ezi zezona zilwa nesifo ngokuthe ngqo. Kukho iintlobo ezimbini eziphambili zezi lymphocytes: ii-T-cells kunye nee-B-cells. Zombini ezi seli zibaluleke kakhulu ekulweni nesifo.

• Ii-T-cells ziyazazi 'iinvaders' ezibangela izifo - izinto ezifana neebhaktheriya kunye neentsholongwane - ezingena emzimbeni, zizihlasele, kwaye zitshabalalise.
• Ii-B-cells zenza 'ii-antibodies' . Ezi antibodies zifana neenkumbulo. Wakuba ugule, uyakhumbula kwaye ulungele ukulwa nazo ukuba ziyabuya.

Igama elithi 'Combined' kwigama elithi SCID (Severe Combined Immunodeficiency) lithetha ukuba esi sifo sichaphazela zombini ii-T-cells kunye nee-B-cells. Yiyo loo nto sibizwa ngokuba yi-'combined' deficiency.

Umntwana one-SCID une-lymphocytes ezimbalwa kakhulu, okanye iiseli anazo azisebenzi kakuhle. Ngoko ke, ngenxa yokuba inkqubo yomzimba yokuzikhusela ayisebenzi kakuhle, kunzima kakhulu, ngamanye amaxesha akunakwenzeka, ukulwa neentsholongwane—iintsholongwane, iibhaktheriya kunye nefungi.

Yintoni ebangela i-SCID?

Kukwakho neentlobo ezahlukeneyo ze-SCID (Severe Combined Immunodeficiency).

Uhlobo oluqhelekileyo lubangelwa yingxaki yejini kwi-chromosome X. Oku kudla ngokuchaphazela abafana kuphela. Ngenxa yokuba amantombazana anee-chromosome ezimbini ze-X, nokuba enye inengxaki, amajoni omzimba awo asenokusebenza ngenxa ye-chromosome X ephilileyo. Kodwa abafana bane-chromosome X enye kuphela. Ngoko ke ukuba loo jini ibuthathaka, isifo siya kuvela. Amantombazana anokuba 'ngabathwali' besifo kuphela. Oku kuthetha ukuba nokuba abanaso esi sifo, abantwana babo banokudlulisela ijini.

Kukho olunye uhlobo lwe-SCID, olubangelwa kukunqongophala kwe-enzyme efunekayo ekuphuhlisweni kwee-lymphocytes. Ngaphandle koku, i-SCID inokubangelwa zezinye izizathu ezahlukeneyo zemfuza.

Zithini iimpawu ze-SCID? Ifunyaniswa njani?

Nangona iintsana ezine-SCID zinokubonakala ziphilile xa zizalwa , iingxaki zisenokuqala ukukhula ngokuhamba kwexesha. Nazi ezinye iimpawu ekufuneka uziqaphele:

• Ukungaphumeleli ukukhula, ukungatyebi rhoqo .
• Urhudo olungapheliyo .
• Usulelo lokuphefumla oluxhaphakileyo, ngamanye amaxesha oluqatha . Oku kuthetha ukuxinana kwesifuba okungapheliyo kunye nokukhohlela.
• Usulelo lwefungus olubangela amabala amhlophe emlonyeni nasemqaleni (i-oral thrush)Kuza. Sikwabiza oku ngokuba yi-'Ullogam'.
• Ukongeza, ezinye izifo zebhaktiriya, iintsholongwane, okanye iifungus ezinzima ukuzinyanga kwaye ezinokuba nzima kakhulu zinokuvela. Umzekelo:
• Usulelo lwendlebe (i-acute otitis media)
• Usulelo lweSinus (sinusitis)
• Irhashalala lolusu
• Umkhuhlane wobuchopho, i-meningitis
• Ukukrala kwemiphunga

Khawuthelekelele indlela ekunokuba nzima ngayo kubazali ukuba usana oluncinci luhlala lugula ngolu hlobo, kwaye ukuba isifo esinye siyaphola ngaphambi kokuba kuvele esinye. Ke ngoko, ukuba olunye okanye ngaphezulu kwezi mpawu ziyaqhubeka, ngokuqinisekileyo kuya kufuneka ubone ugqirha ngokukhawuleza.

Ifunyanwa njani i-SCID (Severe Combined Immunodeficiency)?

Ngethamsanqa, uvavanyo lwegazi olulula, olubizwa ngokuba yi -'newborn screening' , ngoku lwenziwa ukujonga izifo ezithile kwiintsana kwangoko nje ukuba zizelwe . Umzekelo, 'isifo se-sickle cell' kunye ne-'cystic fibrosis' zinokufunyanwa ngale ndlela. Uvavanyo olufanayo lwenziwa naseSri Lanka. Iindaba ezimnandi zezokuba i-SCID (Severe Combined Immunodeficiency) ngoku inokubonwa ngolu vavanyo losana olusandul' ukuzalwa kwamanye amazwe.

Ngale ndlela , xa isifo sifunyenwe kwangethuba, unyango lunokuqala ngokukhawuleza. Emva koko iziphumo ziba ngcono kakhulu.

Ukuba uhlolo losana olusandul’ ukuzalwa lubonisa ukuba umntwana unesifo se-SCID, umntwana udla ngokuthunyelwa kwingcali yokukhubazeka komzimba. Loo gqirha uya kuyalela uvavanyo lwegazi olongezelelweyo, mhlawumbi novavanyo lwemfuza .

Ukuba kukho umntu kusapho one-SCID, okanye ukuba kukho imbali yosapho ene-immunodeficiency, abazali banokufumana iingcebiso nge-genetic . Banokwenza uvavanyo lwegazi kwangoko nje ukuba umntwana uzelwe . Okukhona ukuxilongwa kusenziwa ngokukhawuleza, kokukhona unyango lunokuqala ngokukhawuleza kwaye iziphumo ziya kuba ngcono.

Ngamanye amaxesha, ukuba uguquko lwezakhi zofuzo olubangela i-SCID kusapho luyaziwa, kunokwenzeka ukuvavanya umntwana ukuba akafumani sifo xa ezalwa . Nangona kunjalo, kwiintsana ezingenayo imbali yosapho okanye ezingahlolwanga ngokuhlolwa kosana olusandul’ ukuzalwa, kusenokuba sele kudlule iinyanga ezi-6 ngaphambi kokuba isifo sibonwe. Ngelo xesha, sele kudlule ixesha.

Ziziphi iindlela zonyango ze-SCID?

I-SCID yingxaki yezonyango yabantwana. Oku kuthetha ukuba ukuba ayinyangwa ngokukhawuleza, ezi ntsana zinokufa ngaphambi kokuba zifikelele kwiminyaka yazo yokuqala. Ngoko ke, unyango olukhawulezileyo lubaluleke kakhulu.

Olona nyango luxhaphakileyo kukufakelwa i-stem cell.Oku kukwabizwa ngokuba 'kukufakelwa kwethambo', oku kuquka ukunika iiseli eziqalayo ukusuka kumntu ophilileyo ukuya kumntwana ogulayo. Ithemba kukuba ezi seli zintsha ziya kwakha kwakhona inkqubo yomzimba yokuzikhusela yomntwana.

• Ukufakelwa kweeseli ze-stem okuphumeleleyo kunokwenziwa ukuba iiseli zithathwe kwisizalwana esihambelanayo ngokwemfuza.
• Ngamanye amaxesha, iiseli zabazali nazo zinokuhambelana.
• Ukuba akukho mntu ufanayo kusapho, oogqirha banokusebenzisa ii-stem cells ezivela kumntu onikelayo onganxulumananga naye.

Ezinye iintsana ezine-SCID nazo zinokufuna i-chemotherapy ngaphambi kokufakelwa.

Eyona nto ibalulekileyo kukuba olu tyando lwe-stem cell lwenziwe kwiinyanga zokuqala zobomi bomntwana, ngaphambi kokuba afumane naluphi na usulelo. Kulapho ke iziphumo ziphumelela khona.

Unyango lwe-gene lukwabonise iziphumo ezithembisayo kwizilingo zeklinikhi kwiintlobo ezahlukeneyo ze-SCID. Nangona kunjalo, alukasetyenziswa kakhulu kumazwe amaninzi kwihlabathi liphela. Uphando malunga nonyango lwe-gene lwe-SCID lusaqhubeka.

Xa kunyangwa umntwana one-SCID, kuhlala kukho iqela lezonyango elenziwe ziingcali ezahlukeneyo. Umzekelo:

• Ingcali yezifo zabantwana
• Ugqirha wokufakelwa umongo wethambo
• Ingcali yezifo ezosulelayo zabantwana

Iintsana ezine-SCID zisengozini enkulu yokufumana usulelo olusongela ubomi. Ngenxa yoko, oogqirha baqala ukubanika amayeza okunceda ukuthintela usulelo. Umzekelo, amayeza okubulala iintsholongwane, amayeza okubulala iintsholongwane, amayeza okulwa neentsholongwane , kunye neenaliti ze-antibody/immunoglobulin . Ezinye iintsana, kuxhomekeke kukwahluka kwazo kwimfuza, zinokufuna nokufakwa kwee-enzyme .

Izinto ezingakumbi onokuzazi malunga ne-SCID

Ukongeza kumayeza nonyango, kukho ezinye iindlela zokuzikhusela ekufuneka uzithathe ukuze uthintele usulelo. Gcina ezi zinto engqondweni xa unyamekela umntwana one-SCID:

• Ukuthintela ukusasazeka kosulelo, kufuneka ahlukaniswe nabanye abantu. Oku kuthetha ukumnika igumbi elahlukileyo nokuqinisekisa ukuba izinto azichukumisayo zicocekile.
• Akucetyiswa ukunika naluphi na 'ugonyo oluphilayo'. Oku kungenxa yokuba kunokuba yingozi ukunika umntwana one-SCID, nokuba yintsholongwane ebuthathaka, njengesigonyo. Imizekelo yoku yile:Ugonyo lweRotavirus, ugonyo lwenkukhu/i-varicella, ugonyo lwe-measles-mumps-rubella (MMR), ugonyo lwe-polio yomlomo, ugonyo lwe-BCG, kunye nogonyo lwe-flu ephilayo.
• Eyona nto ibalulekileyo kukuba kungabikho mntu uhlala kwikhaya elinye nomntwana ofanele afumane ezi gonyo ziphilayo, kuba zinokudlulisela esi sifo kumntwana.
• Ukuba kufuneka utofelo-gazi, kufuneka luphathwe ngegazi ngendlela ekhethekileyo. Oku kwenzelwa ukuthintela iingxaki ezinokubakho ngenxa yotofelo-gazi.
• Kusenokufuneka uyeke ukuncancisa okwethutyana de ubisi lwakho lwebele luvavanywe iintsholongwane ezinokubangela usulelo. Landela imiyalelo kagqirha wakho ngononophelo.

Ninganceda njani njengabazali?

Ngelixa umntwana wakho evavanywa i-SCID, kwaye ngexesha lonyango, zininzi izinto onokuzenza njengomzali ukunciphisa umngcipheko wosulelo. Nazi ezinye zazo:

• Linganisela inani leendwendwe eziza ekhayeni. Kungcono ukuba nabantu abambalwa kangangoko kunokwenzeka beze kubona umntwana.
• Kuphephe ukuthatha umntwana wakho aye kwiindawo zikawonke-wonke ezinabantu abaninzi , njengeevenkile ezinkulu kunye neminyhadala.
• Musa ukuzisa umntwana wakho kufutshane nomntu onomkhuhlane , umkhuhlane, okanye ukukhohlela. Ukuba kukho umntu onjalo ekhaya, mgcine kude nomntwana wakho.
• Ngaphambi kokuba umchukumise umntwana, qiniseka ukuba wonke umntu oza kunyamekela umntwana uhlamba izandla zakhe kakuhle. Hlamba izandla zakho ngesepha namanzi abalekayo ubuncinane imizuzwana engama-20.

Masicinge ngekamva.

Usana olune-SCID lunokufuneka lwenziwe iinkqubo ezininzi zonyango kunye nokuhlala esibhedlele rhoqo. Oku kunokuba ngamava anzima kakhulu kulo naliphi na usapho. Kodwa khumbula ukuba awuwedwa.

Iqela lezonyango likho ukunceda wena nomntwana wakho ngaphambi, ngexesha, nasemva konyango. Ungafumana uncedo kunye nenkuthazo kumaqela enkxaso, abasebenzi bezentlalo, usapho kunye nabahlobo. Kusenokuba kukho imibutho eSri Lanka enceda abantwana abanengxaki, ngoko ke bajonge.

Ukuze ufumane ulwazi oluthe kratya kunye nenkxaso kwi-intanethi, ungandwendwela iiwebhusayithi zamazwe ngamazwe ezifana nezi (ezi zibhalwe ngesiNgesi):

• Isiseko soNcedo loMzimba
• I-SCID, iiNgelosi zoBomi

Ezona zinto zibalulekileyo onokuzithatha ekhaya kweli nqaku

Kulungile, ngoko ke, ngokwezinto esithethe ngazo, ezi zezona zinto zibalulekileyo ekufuneka uzikhumbule:

• I-SCID (Severe Combined Immunodeficiency) sisifo esingaqhelekanga kodwa esiyingozi esibangela ukuba inkqubo yomzimba yokuzikhusela yomntwana ingasebenzi kakuhle.
• Ukuba uneempawu ezifana nosulelo olunzima rhoqo, ukungakwazi ukutyeba, okanye urhudo olungapheliyo , funa ingcebiso kagqirha ngoko nangoko.
• Ukuhlolwa kweentsana ezisandul’ ukuzalwa ngamanye amaxesha kunokubona i-SCID kwangethuba.
• Ukuxilongwa kwangoko kunye nonyango kubaluleke kakhulu. Unyango oluphambili kukufakelwa kweeseli ze-stem / ukufakelwa umongo wethambo.
• Kubaluleke kakhulu ukukhusela umntwana one-SCID kwiintsholongwane, kwaye kufuneka kuthathwe amanyathelo akhethekileyo okuzikhusela.
• Awuwedwa. Fumana uncedo koogqirha, kusapho, nakumaqela enkxaso.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ndikunqwenelela umntwana wakho ukuba aphile ngokukhawuleza!

` I-SCID, Ukunqongophala Okukhulu Kwamajoni Omzimba, Ukunqongophala Kwamajoni Omzimba, IiPediatrics, Izifo Zemfuza, Ukufakelwa KweBone Marrow, Ukuhlolwa Kweentsana Ezisandula Ukuzalwa