Masiqaphele isifo sikaKrabbe, isifo esingaqhelekanga semithambo-luvo ebantwaneni

Kunzima ukuchaza intlungu noxinzelelo umama okanye utata aluvayo xa umntwana wabo egula, akunjalo? Ingakumbi xa imeko ingaqhelekanga kwaye ibonakala inzima, umthwalo uba mkhulu nangakumbi. Namhlanje siza kuthetha ngenye imeko engaqhelekanga kodwa ebalulekileyo. Oku kubizwa ngokuba yiKrabbe Disease. Abanye abantu babiza ngokuba yiGloboid Cell Leukodystrophy. Nangona igama lisenokubonakala lide kancinci, masiligcine lilula.

Yintoni isifo saseKrabbe?

Ngamafutshane, isifo sikaKrabbe sisifo esingaqhelekanga semfuza esichaphazela inkqubo yemithambo-luvo. Sibizwa ngokuba yi "kra-bah."

Esi sifo sikwiqela lezifo ezibizwa ngokuba yiLeukodystrophies. Kwezi zifo , isigqubuthelo sokukhusela esibizwa ngokuba yiMyelin kwinkqubo yethu yemithambo-luvo siyalahleka (oku kubizwa ngokuba yiDemyelination). Cinga ngeeseli zemithambo-luvo emzimbeni wethu njengeentambo zombane. Kukho isigqubuthelo sokukhusela esijikeleze ezi ntambo, njengesigqubuthelo seplastiki phezu kwentambo. Yiloo nto ibizwa ngokuba yiMyelin. Esi sigqubuthelo semyelin sivumela imiyalezo yemithambo-luvo ukuba ihambe ngokukhawuleza nangokuchanekileyo. Kwisifo saseKrabbe, esi sigqubuthelo semyelin sonakele.

Kwakhona, kwesi sifo, uhlobo olungaqhelekanga lweseli engqondweni olubizwa ngokuba zii-globoid cells lunokubonwa. Ezi ziiseli ezinkulu ezidla ngokuba neenucleus ezingaphezu kwesinye.

Njengoko i-myelin sheath itshatyalaliswa, iiseli zengqondo ziqala ukufa. Oku kubangela iingxaki eziphazamisa ukusebenza kwenkqubo yemithambo-luvo kancinci kancinci. Umzekelo:

• Ukukhubazeka kwengqondo
• Ukukhubazeka komzimba
• Ukulahlekelwa kukuva okanye ukungeva

Isifo sikaKrabbe sisifo esiwohlokayo esiba mandundu kancinci kancinci ngokuhamba kwexesha. Into ebuhlungu kukuba, sidla ngokuphelela ekufeni.

Esi sifo sibizwa ngegama likaKnud Krabbe, ingcali yezifo zengqondo yaseDenmark.

Ngubani ochaphazeleka kakhulu sisifo saseKrabbe?

Malunga nama-90% abantu abanesifo saseKrabbe baqala ukuba neempawu phakathi kwenyanga e-1 ukuya kweyesi-7 ubudala. Oku kubizwa ngokuba luhlobo losana lwesifo saseKrabbe. Ngamanye amaxesha, esi sifo sinokuqala emva kweenyanga ezili-18 ubudala, ngexesha lokufikisa okanye lokuba ngumntu omdala. Oku kubizwa ngokuba luhlobo lokuqala kwesifo saseKrabbe emva kwexesha.

Eyona nto ibalulekileyo kukuba isifo sikaKrabbe sisifo esidluliselwa kubazali ukuya ebantwaneni ngokusebenzisa iijini.

Ixhaphake kangakanani le sifo?

Isifo sikaKrabbe sisifo esingaqhelekanga kakhulu. Nangona kunjalo, ukuvela kwaso kuyahluka kwiindawo ezahlukeneyo zehlabathi. Ngokutsho kwabaphandi, esi sifo sinokuvela kumntwana omnye kwabayi-100,000 abazalwa bephila eYurophu kunye nomnye kwabayi-250,000 abazalwa bephila eMelika.

Nangona kunjalo, esi sifo sixhaphake kakhulu kwiindawo ezithile ezikwanti kwaSirayeli, apho abantu abamalunga ne-6 kwi-1,000 nganye bafumana esi sifo.

Zithini iimpawu zesifo saseKrabbe?

Ubunzima beempawu zesifo sikaKrabbe buxhomekeke kwiminyaka eziqala ngayo iimpawu. Uhlobo lwesifo sikaKrabbe olusebantwaneni luba mandundu ngokukhawuleza kwaye ludla ngokubulala ngaphambi kokuba lufikelele kwiminyaka emi-2 ubudala. Uhlobo lwesifo sikaKrabbe oluqala emva kwexesha luthambile, kwaye ixesha lokuphila lide.

Iimpawu ze-Infantile Krabbe Disease

Iimpawu zesifo sikaKrabbe kwasebuntwaneni zingabonwa ngamanqanaba amathathu aphambili:

Inqanaba loku-1:

Umntwana onesifo sikaKrabbe uhlala ekhula aze akhule kakuhle de abe neenyanga ezi-4 ukuya kwezi-6 ubudala. Kulapho ke iimpawu ziqala khona. Ezi ziquka:

• Ukungazoli rhoqo, ukucaphuka
• Ukuhlanza
• Ubunzima bokusela ubisi
• Ukungaphumeleli Ukuphumelela
• Umkhuhlane oqhelekileyo ngaphandle kweempawu zosulelo
• Ubuthathaka bemisipha

Umntwana onesifo sikaKrabbe unokuba novakalelo olukhulu xa echukunyiswa, eva isandi, okanye ekhanyisa. Xa loo nto ifika, umzimba unokuba novakalelo oluqinileyo (iTonic Spasms). Khawuthelekelele, umntwana uza kothuka aze aqine xa eva isandi esincinci.

Inqanaba lesi-2:

Kwinqanaba lesibini, ungabona iimpawu ezifana nezi:

• Utshintsho lombono
• I-Optic Atrophy - Oku kuthetha ukuba buthathaka kwe-optic nerve.
• Ukuma okungaqhelekanga - Ukuqina kwemisipha yentamo, umzimba, kunye nemilenze kunokubangela ukuma okugoba ngasemva ukusuka entanyeni ukuya kwizithende (Opisthotonic Posturing). Kufana nokugoba ngasemva njengesaphetha.
• Iimeko ezifana nokuxhuzula
• Ukucotha kophuhliso lwengqondo nolomzimba
• Ukungakwazi ukwenza izinto ezazifundiwe ngaphambili (umz., ukuncuma, ukuphakamisa intloko) kwakhona.

Inqanaba lesi-3:

Kwinqanaba lesithathu, ezi mpawu ziyabonwa:

• Ukulahlekelwa ngokupheleleyo kombono (ubumfama)
• Ukulahlekelwa ngokupheleleyo kukuva (ukungeva)
• Ukuma komzimba okungaqhelekanga - ukuma apho iingalo nemilenze zithe tye, iminwe ijonge ezantsi, kwaye intloko nentamo zitsalwa ngasemva (ukuma okunciphileyo)
• Ukuncipha kwamandla okuhambahamba.

Ukufunda ezi nkcukacha kunokukwenza uzive ulusizi kwaye woyika. Kodwa ukwazi ezi zinto kubaluleke kakhulu ekuxilongweni kwangethuba nasekufumaneni uncedo olufunayo.

Iimpawu zeSifo saseKrabbe esiqala emva kwexesha

Isifo seKrabbe sosana olufikisayo siqala phakathi kweenyanga ezili-13 ukuya kwezingama-36 ubudala. Iimpawu zibonakala kancinci kancinci ngolu hlobo lulandelayo:

• Ukucaphuka
• Utshintsho lombono
• Ukuhamba ngendlela engaqhelekanga
• Ukuxhuzula
• Iziqendu ze-Apneic
• Ukungazinzi kobushushu bomzimba

Kule meko, ubudala obuqhelekileyo bokufa bumalunga neminyaka emithandathu.

Iimpawu zeSifo seKrabbe soLutsha nezi:

• Utshintsho lombono
• Iingxolo
• Ukungahambelani kakuhle kwendlela yokuhamba
• Ukungakwazi ukulawula iintshukumo njengoko kufunwayo kunye nokuqina kwemisipha kancinci kancinci
• Ingxaki Yokunqongophala Kwengqalelo/Ukuphazamiseka Kokusebenza Kakhulu (ADHD)

Izinga lokwanda kolu hlobo lwesifo saseKrabbe liyahluka, kodwa ukufa kudla ngokubangelwa kungekapheli iminyaka eli-10 emva kokufunyaniswa.

Iimpawu zeSifo saseKrabbe esiqala emva kwexesha :

• Ukuvutha kwezandla neenyawo
• Utshintsho kwimo yengqondo nakwindlela yokuziphatha
• Ukugxadazela xa uhamba, ukulahlekelwa yibhalansi `(Ataxia)`
• Ukuqina kwemisipha (Ukuqaqamba kwemisipha)
• Utshintsho lombono kunye nobumfama
• Ukuxhuzula
• Ukukhubazeka kokuva kunye nokungeva

Abantu abaninzi abafumana isifo sikaKrabbe xa bebadala baba buthathaka engqondweni nasemzimbeni.

Yintoni ebangela isifo saseKrabbe?

Isifo sikaKrabbe sisifo esidluliselwa kubazali ukuya ebantwaneni ngejini. Sizuzwa njengelifa kwi-autosomal recessive pattern. Oku kuthetha ukuba zombini iikopi zejini kwiseli nganye yomntwana kufuneka zibe ne-mutations. Umntu onesi sifo unekopi enye yejini eguquliweyo kumzali ngamnye. Nangona kunjalo, abazali abadli ngokubonisa zimpawu. Bangabathwali besifo kuphela.

Isifo sikaKrabbe sibangelwa kukuguquka kwezakhi zofuzo ezibizwa ngokuba yi-'GALC'. Oku kubangela ukuba umzimba ungavelisi i-enzyme ebizwa ngokuba yi-'Galactocerebrosidase'. Le enzyme ibalulekile emzimbeni wethu ukuze ikwazi ukunyibilikisa i-compound ebizwa ngokuba yi-'Galactocerebroside'. Le galactocerebroside yinxalenye ebalulekileyo ye-myelin (isigqubuthelo esikhuselayo esijikeleze imithambo-luvo).

Xa le enzyme ibalulekileyo ilahlekile, i-myelin sheath kuyo yonke inkqubo ye-nervous ephakathi iyaphuka (i-demyelination). Yile nto ibangela iimpawu ze-neurological zesifo sikaKrabbe.

Isifo saseKrabbe sifunyanwa njani?

Kwamanye amazwe eMelika, uvavanyo lwesifo saseKrabbe lufakiwe kwinkqubo yokuhlolwa kweentsana ezisandul’ ukuzalwa. Olu luvavanyo lwegazi.

Enye indlela ebalulekileyo yokufumanisa isifo saseKrabbe kukusebenzisa iimvavanyo zomfanekiso. Ngokukodwa, iskeni seMRI (Magnetic Resonance Imaging) sinokubona utshintsho kwingqondo yomntwana olubonisa isifo saseKrabbe. I-MRI iluncedo kakhulu ekufumaneni izilonda zobuchopho kwisifo saseKrabbe. Ezi mvavanyo zinokunceda ekufumaneni isifo ebuntwaneni nasebudaleni.

Ukuba umntwana wakho ufunyaniswe enesifo saseKrabbe, jonga ubungakanani bokukhubazeka kwakhe kokuva nokubona.Kusenokufuneka uvavanyo lokuva kunye novavanyo lwamehlo. Oku kuya kunceda ekuqinisekiseni ukuba loluphi uhlobo lwezixhobo zokuncedisa ukuva kunye nezixhobo zokunceda ukubona umntwana wakho anokuzidinga.

Ukuba umntwana wakho ufunyaniswe enesifo sikaKrabbe, ugqirha wakho usenokucebisa ukuba wena neqabane lakho niye kucetyiswa kwaye nivavanywe ngokwemfuza ukuze kuhlolwe umngcipheko wokuba nomnye umntwana. Basenokucebisa nokuba amanye amalungu osapho avavanywe ukuze kubonwe ukuba ngaba bathwali bemfuza engaqhelekanga.

Luluphi unyango lwesifo saseKrabbe?

Ngelishwa, akukho nyango luhlala luhleli lwesifo sikaKrabbe. Kwaye, sidla ngokuphelela ekufeni.

Nangona kunjalo, kukho unyango olunye olunokulawula ukuqhubela phambili kwesifo sikaKrabbe: ukufakelwa kweeseli ze-hematopoietic stem (HSCT).

Ukufakelwa kweeseli ze-stem kuthatha indawo yeeseli ezingaphilanga emzimbeni ngeeseli eziphilileyo. Iiseli ze-Hematopoietic stem ziiseli ezingavuthwanga ezinokukhula zibe ziintlobo zonke zeeseli zegazi, kuquka iiseli ezimhlophe zegazi, iiseli ezibomvu zegazi, kunye neeplatelets.

Kwi-HSCT, iiseli zegazi ezivela kumntu ophilileyo zifakwa kumntwana onesifo saseKrabbe. Oku kunceda ekunikeni umntwana iiseli eziphilileyo kunye nomsebenzi olungileyo we-enzyme ye-GALC engqondweni. Nangona kunjalo, i-HSCT isebenza kakuhle xa inikwa ngaphambi kokuba kuvele iimpawu.

Abaphandi bayaqhubeka bezama ukufumana unyango olungcono lwesifo saseKrabbe. Ngenxa yokuba okwangoku akukho nyango kwaye esi sifo siqhubeka sisiba mandundu ngokuhamba kwexesha, unyango oluphambili lunyango oluxhasayo . Oku kungabandakanya:

• Iziphumzi zemisipha zoxinzelelo lwemisipha
• Amayeza Okulwa Neengcongconi Ukulawula Ukuxhuzula
• Unyango Lomzimba Lokunyusa Ukuhamba
• Unyango Lomsebenzi Lwabantwana Abadala Nabadala
• Ukuba kukho ubunzima bokuginya, nika ukutya ngetyhubhu

Ithini ingqikelelo yesifo saseKrabbe?

Ingqikelelo yesifo saseKrabbe ayilunganga. Idla ngokuphelela ekufeni. Nangona kunjalo, ixesha lokusinda liyahluka ngokuxhomekeke kwiminyaka apho iimpawu ziqala khona.

Umyinge wobomi babantwana abanesifo sikaKrabbe besebancinci malunga neenyanga ezili-13. Uninzi lwabantwana abanesifo esiqala emva kwexesha bayafa kwiminyaka emibini emva kokuba iimpawu ziqalile.

Izinga lokukhula kunye nobomi besifo sikaKrabbe, esiqala ebuntwaneni nasebudaleni, ziyahluka.

Ukufa ngenxa yesifo saseKrabbe kudla ngokubangelwa kukusilela kokuphefumla okubangelwa kubuthathaka bemisipha okanye usulelo olubangelwa kukungena kokutya/ulwelo emiphungeni (i-aspiration).

Ngaba isifo saseKrabbe singathintelwa?

Ngenxa yokuba isifo saseKrabbe sisifo esizuzwe njengelifa, akukho nto sinokuyenza ukusithintela.

Nangona kunjalo, ukuba ukhathazekile ngomngcipheko wokufumana isifo saseKrabbe okanye ezinye izifo zemfuza ngaphambi kokuba uzame ukuba nomntwana, thetha nomboneleli wezempilo malunga neengcebiso zemfuza.

Umntwana wam onesifo saseKrabbe ufanele aye nini kugqirha?

Umntwana wakho kuya kufuneka abone iqela lakhe lezonyango rhoqo ukuze ajonge iimpawu zakhe, ajonge inkqubela yakhe, aze alungise isicwangciso sakhe sokhathalelo oluxhasayo njengoko kufuneka. Ukuba umntwana wakho ufumana naziphi na iimpawu ezintsha, yazisa ugqirha wakho ngoko nangoko.

Isifo sikaKrabbe sisifo semithambo-luvo esingaqhelekanga, esizuzwe njengelifa. Kunokuba yinto eyoyikisayo nenzima ukwazi ukuba umntwana wakho unesifo sikaKrabbe. Kodwa khumbula, awuwedwa. Kukho izixhobo zokunceda nokufundisa wena nosapho lwakho ngale nto. Ukuba neqela lezonyango elinolwazi ngesi sifo kubalulekile ekuboneleleni ngononophelo olungcono kumntwana wakho.

Isishwankathelo (Umyalezo Wokuya Ekhaya)

Nazi izinto ezilula ekufuneka uzikhumbule ngesifo saseKrabbe:

• Isifo sikaKrabbe sisifo esingaqhelekanga esibangelwa lufuzo esonakalisa inkqubo yemithambo-luvo.
• Oku kutshabalalisa isigqubuthelo esikhuselayo esibizwa ngokuba yi-myelin esijikeleze iiseli zemithambo-luvo.
• Ubunzima besifo kunye nexesha esiphila ngalo ziyahluka ngokuxhomekeke kwiminyaka apho iimpawu ziqala khona (iintsana, abantwana, abantu abadala). Siba sibi kakhulu ebuntwaneni.
• Okwangoku akukho nyango, kodwa kukho unyango oluxhasayo lokulawula iimpawu kunye nokuphucula umgangatho wobomi. I-HSCT (ukufakelwa kweeseli ze-hematopoietic stem cell) ngaphambi kokuba iimpawu zibonakale ngamanye amaxesha inokulawula ukuqhubela phambili kwesi sifo.
• Esi sisifo esibangelwa lufuzo kwaye asinakuthintelwa. Nangona kunjalo, iingcebiso ngofuzo zinokukunceda uqaphele umngcipheko wakho.
• Ukuba umntwana wakho unezi mpawu, kubaluleke kakhulu ukufuna ingcebiso kagqirha ngoko nangoko.

Ndiyathemba ukuba olu lwazi luza kukunceda. Khumbula, kungcono ukufuna iingcebiso zonyango ezifanelekileyo kuyo nayiphi na ingxaki yempilo.

Isifo sikaKrabbe , iGloboid Cell Leukodystrophy, iMyelin, iDemyelination, Izifo zemfuza, Izifo ze-Neurological, Izifo zabantwana