Masiqaphele iKrabbe Disease, isifo esingavamile sezinzwa ezinganeni

Kunzima ukuchaza usizi nokukhathazeka umama noma ubaba akuzwayo lapho ingane yabo igula, akunjalo? Ikakhulukazi uma kuyisimo esingavamile nesibonakala siyinkimbinkimbi, umthwalo uba mkhulu nakakhulu. Namuhla sizokhuluma ngesimo esisodwa esingavamile kodwa esibalulekile. Lokhu kubizwa ngokuthi iKrabbe Disease. Abanye abantu basibiza nangokuthi iGloboid Cell Leukodystrophy. Nakuba igama lingase libonakale lide kancane, masiligcine lilula.

Iyini Isifo SikaKrabbe?

Kalula nje, isifo sikaKrabbe siyisifo esingavamile sofuzo esithinta isimiso sezinzwa. Sibizwa ngokuthi "kra-bah."

Lesi sifo singeseqembu lezifo ezibizwa ngokuthi i-Leukodystrophies. Kulezi zifo , isembozo sokuvikela esibizwa ngokuthi i-Myelin ohlelweni lwethu lwezinzwa siyalahleka (lokhu kubizwa ngokuthi i-Demyelination). Cabanga ngamaseli ezinzwa emzimbeni wethu njengezintambo zikagesi. Kukhona isembozo sokuvikela esizungeze lezi zintambo, njengesigxobo sepulasitiki phezu kwentambo. Yilokho okubizwa ngokuthi i-Myelin. Lesi sigxobo se-myelin yisona esivumela imiyalezo yezinzwa ukuthi ihambe ngokushesha nangokunembile. Esifweni saseKrabbe, lesi sigxobo se-myelin sonakele.

Futhi, kulesi sifo, uhlobo olungavamile lweseli ebuchosheni olubizwa ngama-globoid cells lungabonakala. Lawa ngamaseli amakhulu avame ukuba nama-nucleus angaphezu kweyodwa.

Njengoba i-sheath ye-myelin ibhujiswa, amangqamuzana obuchopho aqala ukufa. Lokhu kubangela kancane kancane izinkinga eziphazamisa ukusebenza kwesimiso sezinzwa. Isibonelo:

• Ukukhubazeka Kwengqondo
• Ukukhubazeka
• Ukulahlekelwa ukuzwa noma ukungezwa

Isifo sikaKrabbe yisimo esiwohlokayo esiba sibi kancane kancane ngokuhamba kwesikhathi. Okudabukisayo ukuthi sivame ukuphela ngokufa.

Lesi sifo siqanjwe ngegama likaKnud Krabbe, udokotela wezinzwa waseDenmark.

Ubani othinteka kakhulu yisifo iKrabbe?

Cishe abantu abangu-90% abanesifo iKrabbe baqala ukuba nezimpawu phakathi kwenyanga eyodwa nengu-7 ubudala. Lokhu kubizwa ngokuthi uhlobo losana lwesifo iKrabbe. Ngezinye izikhathi, lesi sifo singaqala ngemva kwezinyanga ezingu-18 ubudala, ngesikhathi sobusha noma sobudala. Lokhu kubizwa ngokuthi uhlobo lokuqala kwesifo iKrabbe sekwephuzile.

Into ebaluleke kakhulu ukuthi isifo sikaKrabbe yisifo esidluliselwa kubazali ezinganeni ngokusebenzisa izakhi zofuzo.

Sivame kangakanani lesi sifo?

Isifo iKrabbe ngokuvamile siyisifo esingavamile kakhulu. Kodwa-ke, ukuvama kwaso kuyahlukahluka ezindaweni ezahlukene zomhlaba. Ngokusho kwabacwaningi, lesi sifo singavela cishe koyedwa kwabayi-100,000 abazalwa bephila eYurophu kanye noyedwa kwabayi-250,000 abazalwa bephila e-United States.

Kodwa-ke, lesi sifo sivame kakhulu kweminye imiphakathi ehlukanisiwe kwa-Israyeli, njengoba sinabantu abacishe babe yi-6 kubantu abayi-1,000.

Ziyini izimpawu zesifo iKrabbe?

Ubunzima bezimpawu zesifo sikaKrabbe buxhomeke eminyakeni lapho izimpawu ziqala khona. Uhlobo lwesifo sikaKrabbe olusencane luba lubi kakhulu futhi luvame ukubulala ngaphambi kweminyaka emi-2. Uhlobo lwesifo sikaKrabbe oluqala sekwephuzile luncane kakhulu, futhi isikhathi sokuphila side kakhulu.

Izimpawu ze-Infantile Krabbe Disease

Izimpawu zesifo sikaKrabbe ebuntwaneni zingabonakala ngezigaba ezintathu eziyinhloko:

Isigaba 1:

Ingane enesifo sikaKrabbe ivame ukukhula futhi ikhule kahle ize ibe nezinyanga ezi-4 kuya kwezi-6 ubudala. Yilapho izimpawu ziqala khona. Lokhu kufaka phakathi:

• Ukungahlaliseki njalo, ukucasuka
• Ukuhlanza
• Ubunzima bokuphuza ubisi
• Ukwehluleka Ukuchuma
• Umkhuhlane ovamile ngaphandle kwezimpawu zokutheleleka
• Ubuthakathaka bemisipha

Ingane enesifo sikaKrabbe ingase izwele kakhulu ekuthinteni, emsindweni nasekukhanyeni. Uma kufika isikhuthazo esinjalo, umzimba ungase ube nomuzwa wokuqina (i-Tonic Spasms). Cabanga nje, ingane izothuka futhi iqine ngomsindo omncane.

Isigaba 2:

Esigabeni sesibili, ungabona izimpawu ezifana nalezi:

• Izinguquko zombono
• I-Optic Atrophy - Lokhu kusho ubuthakathaka be-optic nerve.
• Ukuma Okungajwayelekile - Ukuqina kwemisipha yentamo, isiqu, kanye nemilenze kungaholela ekumeni okugobayo kusukela entanyeni kuya ezithendeni (i-Opisthotonic Posturing). Kufana nokugoba emuva njengomnsalo.
• Izimo ezifana nokuquleka
• Ukunciphisa intuthuko yengqondo neyomzimba
• Ukungakwazi ukwenza izinto ezazifundwa ngaphambilini (isib., ukumomotheka, ukuphakamisa ikhanda lakho) futhi.

Isigaba 3:

Esigabeni sesithathu, lezi zimpawu ziyabonakala:

• Ukulahlekelwa umbono ngokuphelele (ubumpumputhe)
• Ukulahlekelwa ukuzwa okuphelele (ukungezwa)
• Ukuma komzimba okungajwayelekile - ukuma lapho izingalo nemilenze kuqondile, iminwe ibheke phansi, futhi ikhanda nentamo kudonswa emuva (ukuma okuwohlokayo)
• Ukuncipha kwekhono lokuhambahamba.

Ukufunda le mininingwane kungakwenza uzizwe udangele futhi wesaba. Kodwa ukwazi lezi zinto kubaluleke kakhulu ekuxilongweni kusenesikhathi kanye nokuthola usizo oludingayo.

Izimpawu Zesifo SeKrabbe Esiqala Kamuva

Isifo se-Krabbe sezinsana ezisanda kuzalwa siqala phakathi kwezinyanga ezingu-13 nezingu-36. Izimpawu ziqala kancane kancane kanje:

• Ukucasuka
• Izinguquko zombono
• Ukuhamba okungajwayelekile
• Ukuquleka
• Iziqephu ze-Apneic
• Ukungazinzi kokushisa komzimba

Kulesi simo, isilinganiso sobudala bokufa sicishe sibe yiminyaka eyisithupha.

Izimpawu zesifo se-Juvenile-Onset Krabbe yilezi:

• Izinguquko zombono
• Ukuthuthumela
• Ukukhubazeka kokuhamba
• Ukungakwazi ukulawula ukunyakaza njengoba kufunwa kanye nokuqina kwemisipha kancane kancane
• Isifo Sokungakwazi Ukunaka/Ukuphazamiseka Kokusebenza Kakhulu (ADHD)

Izinga lokwanda kwalolu hlobo lwesifo saseKrabbe liyahlukahluka, kodwa ukufa kuvame ukubangelwa zingakapheli iminyaka eyi-10 kusukela kutholakale ukuthi unaso.

Izimpawu zesifo seKrabbe esiqala ngasekupheleni :

• Umuzwa wokushisa ezandleni nasezinyaweni
• Izinguquko esimweni sengqondo nasekuziphatheni
• Ukuzulazula ngenkathi uhamba, ukulahlekelwa yibhalansi `(Ataxia)`
• Ukuqina kwemisipha (i-Spasticity)
• Izinguquko zombono kanye nobumpumputhe
• Ukudlikizela
• Ukukhubazeka kokuzwa kanye nokungezwa

Abantu abaningi abathola isifo iKrabbe lapho sebekhulile baba buthakathaka ngokwengqondo nangokomzimba.

Yini ebangela isifo iKrabbe?

Isifo sikaKrabbe yisifo esidluliselwa kusuka kubazali kuya ezinganeni ngesakhi sofuzo. Sizuzwa njengefa ngephethini yokubuyisa i-autosomal. Lokhu kusho ukuthi womabili amakhophi esakhi sofuzo kuseli ngalinye lengane kumele abe nokuguquka kwezakhi zofuzo. Umuntu onalesi sifo unekhophi eyodwa yesakhi sofuzo esiguquliwe kumzali ngamunye. Kodwa-ke, abazali ngokuvamile ababonisi izimpawu. Bangabathwali besifo kuphela.

Isifo sikaKrabbe sibangelwa ukuguquka kwezakhi zofuzo i-`GALC`. Lokhu kuholela ekutheni umzimba ungakhiqizi i-enzyme ebizwa ngokuthi i-`Galactocerebrosidase`. Le enzyme ibalulekile emzimbeni wethu ukuze kugaywe i-compound ebizwa ngokuthi i-`Galactocerebroside`. Le galactocerebroside iyingxenye ebalulekile ye-myelin (isivikelo esizungeze izinzwa).

Uma le enzyme ebalulekile ilahlekile, i-myelin sheath kuyo yonke isimiso sezinzwa esiyinhloko iyaphuka (i-demyelination). Yilokhu okubangela izimpawu zezinzwa zesifo saseKrabbe.

Isifo saseKrabbe sitholakala kanjani?

Kwamanye amazwe e-United States, ukuhlolwa kwesifo saseKrabbe kufakiwe ohlelweni lokuhlolwa olujwayelekile lwezinsana ezisanda kuzalwa. Lokhu ukuhlolwa kwegazi.

Enye indlela ebalulekile yokuxilonga isifo sikaKrabbe iwukusebenzisa izivivinyo zezithombe. Ikakhulukazi, ukuskena kwe-MRI (Magnetic Resonance Imaging) kungathola izinguquko ebuchosheni bengane ezibonisa isifo sikaKrabbe. I-MRI iwusizo kakhulu ekutholeni izilonda zobuchopho esifweni sikaKrabbe. Lezi zivivinyo zingasiza futhi ekuxilongeni lesi sifo ebuntwaneni nasebudaleni.

Uma ingane yakho itholakale inesifo iKrabbe, hlola izinga lokukhubazeka kwayo kokuzwa nokubona.Kungase kudingeke Ukuhlolwa Kokuzwa Nokuhlolwa Kwamehlo. Lokhu kuzosiza ekunqumeni ukuthi hlobo luni lwezinsiza zokuzwa kanye nezinsiza zokubona ingane yakho engase izidinge.

Uma ingane yakho itholakale inesifo iKrabbe, udokotela wakho cishe uzoncoma ukuthi wena nomlingani wakho niye kokwelulekwa nokuhlolwa kwezakhi zofuzo ukuze kuhlolwe ingozi yokuba nomunye umntwana. Bangase batuse nokuthi amanye amalungu omndeni ahlolwe ukuze kubonakale ukuthi angabathwali besakhi sofuzo esingavamile.

Iyini indlela yokwelapha isifo saseKrabbe?

Ngeshwa, akukabikho ikhambi elihlala njalo lesifo sikaKrabbe. Futhi, ngokuvamile siphelela ekufeni.

Kodwa-ke, kukhona ukwelashwa okukodwa okungalawula ukuqhubeka kwesifo sikaKrabbe: ukufakelwa kweseli le-hematopoietic stem (HSCT).

Ukufakelwa kweseli le-stem kushintsha amangqamuzana angaphili kahle emzimbeni ngamaseli anempilo. Amangqamuzana e-hematopoietic stem cells angamaseli angavuthiwe angakhula abe yizinhlobo zonke zamangqamuzana egazi, okuhlanganisa amangqamuzana amhlophe egazi, amangqamuzana abomvu egazi, nama-platelet.

Ku-HSCT, amaseli egazi avela kumnikeli onempilo atshalwa enganeni enesifo iKrabbe. Lokhu kusiza ukunikeza ingane amaseli anempilo kanye nomsebenzi omuhle we-enzyme ye-GALC ebuchosheni. Kodwa-ke, i-HSCT isebenza kahle kakhulu uma inikezwa ngaphambi kokuba kuvele izimpawu.

Abacwaningi bayaqhubeka nokuzama ukuthola izindlela zokwelapha ezingcono zesifo saseKrabbe. Ngenxa yokuthi okwamanje akukho ikhambi futhi lesi sifo siya siba sibi ngokuhamba kwesikhathi, ukwelashwa okuyinhloko ukunakekelwa okusekelayo . Lokhu kungafaka:

• Iziphumuli zemisipha zokucindezeleka kwemisipha
• Imithi Yokulwa Nokuxhuzula Yokulawula Ukuquleka
• Ukwelashwa Komzimba Ukwandisa Ukuhamba
• Ukwelashwa Kwabasebenzi Kwabantwana Abadala Nabadala
• Uma kunzima ukugwinya, nikeza ukudla ngamapayipi

Iyini inkomba yesifo iKrabbe?

Isibikezelo sesifo iKrabbe asisihle. Ngokuvamile siphelela ekufeni. Kodwa-ke, isikhathi sokusinda siyahlukahluka kuye ngokuthi izimpawu ziqala nini.

Isilinganiso sokuphila kwezingane ezinesifo iKrabbe zisencane cishe singama-13 izinyanga. Iningi lezingane ezinesifo esiqala ukuvela zifa zingakapheli iminyaka emibili kusukela ekuqaleni kwezimpawu.

Izinga lokuqhubeka kanye nesikhathi sokuphila kwesifo iKrabbe, esiqala ebuntwaneni nasebudaleni, liyahlukahluka.

Ukufa ngenxa yesifo iKrabbe kuvame ukwenzeka ngenxa yokwehluleka kokuphefumula okubangelwa ubuthakathaka bemisipha noma ukutheleleka okubangelwa ukudla/uketshezi olungena emaphashini (i-aspiration).

Ingabe isifo saseKrabbe singavinjelwa?

Ngenxa yokuthi isifo saseKrabbe siyisifo esizuzwe njengefa, akukho esingakwenza ukusivimbela.

Kodwa-ke, uma ukhathazekile ngengozi yokuthola isifo sikaKrabbe noma ezinye izifo zofuzo ngaphambi kokuba uzame ukuba nomntwana, khuluma nomhlinzeki wezempilo mayelana nokwelulekwa ngofuzo.

Ingane yami enesifo saseKrabbe kufanele ibonane nini nodokotela?

Ingane yakho kuzodingeka ibone ithimba layo lezempilo njalo ukuze iqaphe izimpawu zayo, iqaphe inqubekela phambili yayo, futhi ilungise uhlelo lwayo lokunakekelwa olusekelayo njengoba kudingeka. Uma ingane yakho iba nanoma yiziphi izimpawu ezintsha, yazisa udokotela wakho ngokushesha.

Isifo sikaKrabbe siyisifo sezinzwa esingavamile, esizuzwe njengefa. Kungaba yinto eshaqisayo futhi kube umthwalo ukwazi ukuthi ingane yakho inesifo sikaKrabbe. Kodwa khumbula, awuwedwa. Kunezinsiza zokusiza nokufundisa wena nomndeni wakho ngalokhu. Ukuba nethimba lezokwelapha elinolwazi ngalesi sifo kubalulekile ekuhlinzekeni ukunakekelwa okungcono kakhulu kwengane yakho.

Isifinyezo (Umyalezo Wokuya Nawe Ekhaya)

Nazi ezinye izinto ezilula okufanele uzikhumbule ngesifo iKrabbe:

• Isifo sikaKrabbe yisifo esingavamile esithinta izakhi zofuzo esilimaza uhlelo lwezinzwa.
• Lokhu kubhubhisa isembozo esivikelayo esibizwa ngokuthi i-myelin esizungeze amangqamuzana ezinzwa.
• Ubunzima besifo kanye nesikhathi sokuphila kuyahlukahluka kuye ngokuthi izimpawu ziqala nini (izinsana, izingane, abantu abadala). Sibi kakhulu ebuntwaneni.
• Okwamanje akukho ukwelashwa, kodwa kunezindlela zokwelapha ezisekelayo zokulawula izimpawu nokuthuthukisa ikhwalithi yokuphila. I-HSCT (ukufakelwa kweseli le-hematopoietic stem) ngaphambi kokuba izimpawu zivele ngezinye izikhathi ingalawula ukuwohloka kwesifo.
• Lesi yisifo esibangelwa izakhi zofuzo futhi asinakuvinjelwa. Kodwa-ke, ukwelulekwa ngezakhi zofuzo kungakusiza uqaphele ingozi yakho.
• Uma ingane yakho inalezi zimpawu, kubaluleke kakhulu ukufuna iseluleko sezokwelapha ngokushesha.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Khumbula, kungcono ukufuna iseluleko sezokwelapha esifanele nganoma iyiphi inkinga yezempilo.

Isifo sikaKrabbe , i-Globoid Cell Leukodystrophy, i-Myelin, i-Demyelination, Izifo zofuzo, Izifo ze-Neurological, Izifo zezingane