Ingabe unesifo esingavamile esithinta 'into emhlophe' yobuchopho bakho? Ake sixoxe nge-Leukodystrophy!

Wake wezwa ngegama elithi 'Leukodystrophy'? Lingase lizwakale lingavamile futhi kunzima ukulibiza, akunjalo? Kodwa lena indaba ngesifo esingavamile esithinta isimiso sethu sezinzwa, ikakhulukazi ubuchopho nomgogodla, kodwa kubaluleke kakhulu ukuthi sonke siqaphele. Ngezinye izikhathi sikhathazeka kakhulu uma othile oseduze nathi, ingane encane, eba nalesi simo. Ngakho-ke, ake sixoxe ngalokhu namuhla, ngendlela ongayiqonda.

Iyini le leukodystrophy?

Kalula nje, i-leukodystrophy iyiqembu lezifo zemizwa ezingavamile. Imizwa ebuchosheni bethu kanye nomgogodla (ezifana nezintambo zikagesi) izungezwe isembozo esivikelayo nesivikelayo esibizwa ngokuthi i-myelin . Le myelin isiza imiyalezo yemizwa ukuthi ihambe kahle futhi ngokushesha. Odokotela babiza futhi lolu ngqimba lwe-myelin ngokuthi i-white matter.

Cabanga ngakho njengesigxobo sepulasitiki esizungeze ucingo lukagesi. Uma leso sigxobo sonakele, ugesi awuhambi kahle, futhi ungabangela ngisho 'nokufutshane'. Ngokufanayo, lapho lesi sigxobo esivikelayo esibizwa ngokuthi i-myelin sonakele, noma uma singakheki kahle, amangqamuzana ethu ezinzwa awakwazi ukuxhumana kahle. Imiyalezo ayidluli kahle. Okwenzekayo ku-leukodystrophy ukuthi le myelin yonakala njalo. Lokhu kubangela ukulahlekelwa okuqhubekayo kokusebenza ohlelweni lwezinzwa. Ukuxhumana phakathi kobuchopho nomzimba wonke kuyaphela.

Sivame kangakanani lesi simo?

Eqinisweni, i-leukodystrophy ayiyona into evamile kakhulu. Zonke izinhlobo ze-leukodystrophy azivamile. Isibonelo, e-United States naseCanada, zonke izinhlobo ze-leukodystrophy zihlangene zithinta phakathi kokuzalwa okuphilayo okukodwa kwabangu-6,000 nokuzalwa okubili kwabangu-100,000. Emazweni ase-Asia, kubikwa ukuthi ukwenzeka kwalesi sifo kuphansi kakhulu kwabathathu kwabangu-100,000.

Ziyini izimpawu ze-leukodystrophy?

Lena yiyona eyinkimbinkimbi kakhulu. Ngoba izimpawu ze-leukodystrophy zingahluka kakhulu. Izimpawu nazo ziyahlukahluka kuye ngohlobo lwesifo. Kodwa-ke, ezinhlotsheni eziningi ze-leukodystrophy, kukhona ukwehla kancane kancane ekusebenzeni kwesimiso sezinzwa . Lokhu kungabangela izimpawu ezahlukahlukene. Akuwona wonke umuntu ozoba nazo zonke izimpawu.

Ngokuvamile, lezi zimo zingathinta izinto ezifana nalezi:

• Ukulinganisela ngenkathi uhamba: Ukungakwazi ukuhamba kahle, ukuwa njalo.
• Amandla: Ukuzizwa sengathi izitho zakho zomzimba ziyaphela amandla, kunzima ukuphakamisa noma ukubamba izinto.
• Ukuqonda: Ubunzima bokufunda, ukukhumbula, nokugxila.
• Ukudla nokugwinya: Ubunzima bokugwinya ukudla, ukuminyana njalo.
• Ukuzwa: Ukulahlekelwa ukuzwa.
• Ukunyakaza nokuxhumana: Ukungakwazi ukulawula izitho zomzimba kahle, ubunzima bokwenza imisebenzi ngendlela ehlelekile.
• Inkulumo: Ukungakwazi ukukhuluma kahle, ukungakwazi ukukhuluma kahle, noma ukulahlekelwa kancane kancane ikhono lokukhuluma.
• Umbono: Ubuthakathaka bokubona, ngezinye izikhathi ukulahlekelwa umbono ngokuphelele.

Cabanga ngakho, uma ungumntwana omncane, ukukhula kwengane yakho kungase kube kancane kunezinye izingane. Bangase bahambe kancane ekufundeni izinto ezintsha, badlale futhi bakhulume. Konke lokhu kwenzeka ngoba i-myelin yonakele, futhi imiyalezo evela ebuchosheni eya emzimbeni ayihambi kahle.

Izinhlobo eziningana eziyinhloko ze-leukodystrophy

Abacwaningi manje sebethole izinhlobo ezingaphezu kuka-50 ze-leukodystrophy. Futhi basathola izinhlobo ezintsha. Uhlobo ngalunye lwe-leukodystrophy lubangelwa ukuguquka kwezakhi zofuzo okuhlukile. Okusho ukuthi, ushintsho kuma-gene emzimbeni wethu. Futhi, uhlobo ngalunye lunezimpawu ezihlukile. Ubudala bokuqala kwezimpawu buyahlukahluka kuye ngohlobo.

Ake sibheke ezinye izibonelo. Njengoba kungathatha isikhathi eside ukuchaza zonke lezi zinhlobo, sizokhuluma ngezimbalwa kuphela eziyinhloko.

• I-Adrenoleukodystrophy (ALD): Lokhu kuthinta udaba olumhlophe lobuchopho kanye nomgogodla, kanye nezindlala ze-adrenal, ezilawula ama-hormone ethu. Izimpawu zivame ukuqala ebuntwaneni noma ebudaleni. Ungase uqaphele izinto ezifana nobunzima bokufunda, izinguquko ekuboneni noma ekuzweni, ubunzima bokuhamba, ukukhathala, kanye nokwehla kwesisindo.

• I-leukodystrophy ye-autosomal-dominant leukodystrophy (ADLD) yabantu abadala: Lokhu kuvame ukuvela kubantu abaseminyakeni yabo engama-40 noma engama-50. Kubangela izinkinga ngamandla, ukunyakaza, kanye nokuqonda. Kungathinta nezinto ezifana nomfutho wegazi kanye nokushaya kwenhliziyo .

• Isifo sika-Alexander: Lokhu kubangela ukuthi izingane zibe nokubambezeleka kokukhula, ukuxhuzula, kanye nobunzima bokuhamba. Ngokuvamile kuthinta izinsana noma izingane ezincane. Kodwa-ke, kunezinhlobo ezithile zesifo sika-Alexander ezingadala izimpawu kubantu abadala.

• Isifo saseCanavan:Kulokhu, ukukhula kwengane kuyabambezeleka, umzimba uba buthakathaka, kuba nzima ukugwinya ukudla, kuba nokuxhuzula, ingane ihlala ingahlaliseki, futhi kungase kube nezinguquko embonweni. Izimpawu zivame ukuvela ngesikhathi sobuntwana. Kodwa-ke, kunezinhlobo ezithile zezifo zezinja ezibonisa izimpawu kamuva.

• Isifo sikaKrabbe: Sibizwa nangokuthi i-globoid cell leukodystrophy . Izimpawu zivame ukuqala ebuntwaneni. Zihlanganisa ubuthakathaka, ubunzima bokuncelisa, ukungaphumuli, ukukhubazeka kokukhula, i-neuropathy ( ukuba ndikindiki nokuthuthumela emalungeni), kanye nokuxhuzula. Ngezinye izikhathi izimpawu zingase zivele kamuva ekuphileni.

• I-leukodystrophy ye-Metachromatic: Lokhu kungenzeka ezinsaneni, ezinganeni ezincane, noma ngisho nakubantu abadala. Kungabangela izinguquko emakhonweni okucabanga, ekuziphatheni, ekuboneni noma ekuzweni, ekuqulekeni, ekwehlelweni yizifo zemizwa, ekwehleni kwengqondo (ukulahlekelwa yinkumbulo ngokuphelele), kanye nokungaboni.

Kunezinhlobo eziningi zezinye izinhlobo, njenge -Cerebrotendinous xanthomatosis (CTX) , i-Childhood ataxia ene-central nervous system hypomyelination (CACH) (ebizwa nangokuthi isifo se-vanishing white matter (VWM) ), isifo se-Pelizaeus-Merzbacher (PMD) (esithinta kakhulu abafana), kanye nesifo se-Refsum .

Kungani kwenzeka i-leukodystrophy?

Isizathu esiyinhloko salokhu ukushintsha kwezakhi zofuzo. Okungukuthi, izinguquko ku -DNA emizimbeni yethu. Lezi zinguquko zenzeka ezizakhi zofuzo ezifundisa ukwakheka kwalesi simbozo sokuvikela esibizwa ngokuthi i-myelin, noma ukuthi sisebenza kanjani kahle. Ngaphandle kwalesi simbozo sokuvikela, amangqamuzana ezinzwa awakwazi ukusebenza kahle.

Lokhu kuguquka kwezakhi zofuzo ngezinye izikhathi kungazuzwa kubazali kuya ezinganeni zabo. Okusho ukuthi, kungadluliselwa ezizukulwaneni ngezizukulwane. Kodwa-ke, ngezinye izikhathi lokhu kuguquka kungavela ngokungahleliwe, njengoba amangqamuzana ekhula futhi ehlukana.

Okubalulekile, abanye abantu bangase babe nokuguquka kwezakhi zofuzo okubangela i-leukodystrophy kodwa bangabi yisifo. Sibabiza ngokuthi abathwali. Kodwa-ke, laba bathwali bangadlulisela ukuguquka kwezakhi zofuzo ezinganeni zabo. Uma ungumthwali wokuguquka kwezakhi zofuzo okubangela i-leukodystrophy, ungase ufune ukucabangela ukwelulekwa kwezakhi zofuzo . Umeluleki wezakhi zofuzo uzobheka umlando womndeni wakho futhi akusize unqume ingozi yakho yokudlulisela ukuguquka kwezakhi zofuzo ezinganeni zakho.

Ingabe zikhona izinto eziyingozi ezithinta lokhu?

Eqinisweni, azikho izici ezithile eziyingozi ezingavimbela i-leukodystrophy. Lokhu kungenxa yokuthi ibangelwa izakhi zofuzo. Kodwa-ke, amanye amaqembu ezinhlanga atholakale enamathuba amancane okuthuthukisa izinhlobo ezithile ze-leukodystrophy. Izinhlobo eziningi ze-leukodystrophy zithinta ubulili bobabili ngokulinganayo. Kodwa-ke, ezinye izinhlobo, njengesifo se-Pelizaeus-Merzbacher (PMD), zithinta kakhulu abafana.

I-leukodystrophy ihlolwa kanjani?

Udokotela wakho uzoqala ngokukubuza ngezimpawu zakho bese ebuza ngomlando wakho wempilo kanye nowomndeni. Ngemuva kwalokho uzokwenza ukuhlolwa ngokomzimba kanye nokuhlolwa kwezinzwa.

Ungenza futhi ezinye izivivinyo ezimbalwa:

• Ukuhlolwa kokuhlolwa kwezinsana: Kwamanye amazwe, lokhu kuhlolwa kusetshenziselwa ukuhlonza izinhlobo ezithile ze-leukodystrophies.
• Ukuhlolwa kwegazi namathe ( ukuhlolwa kofuzo ): Lokhu kungabona izinguquko zofuzo ku-DNA yakho.
• Ukuhlolwa kwezithombe: Isibonelo , kungenziwa i-MRI scan ukuze kubhekwe isimo sento emhlophe ebuchosheni nasemgogodleni.

Naphezu kwazo zonke lezi zivivinyo, ukuxilonga i-leukodystrophy ngezinye izikhathi kungaba nzima ngoba izimpawu ziyahlukahluka kakhulu. Ngezinye izikhathi, izimo eziningi ze-leukodystrophy azitholakali.

Yiziphi izindlela zokwelapha i-leukodystrophy?

Lena yinto ebaluleke kakhulu sonke okudingeka siyazi. Akukho ukwelashwa kwe-leukodystrophy okwamanje. Kodwa lokho akusho ukuthi akukho esingakwenza. Kunezinto eziningi esingazenza ukulawula izimpawu, ukwenza impilo ibe lula kancane, nokulondoloza umsebenzi othile wesimiso sezinzwa.

Lokhu kwelashwa kungafaka:

• Imithi yokwelapha ukuxhuzula, ukuqina kwemisipha, nezinkinga zokunyakaza.
• Ukwelashwa okunomsoco noma ukusetshenziswa kwamapayipi okuphakelayo ngenxa yobunzima bokudla nokugwinya.
• Ukwelashwa ngama-hormone ngezinkinga zokusebenza kwezindlala ze-adrenal.
• Ukwelashwa ngokomzimba, ukwelashwa ngokomsebenzi, kanye nokwelashwa ngenkulumo ukuze kuthuthukiswe amakhono afana nokuhamba, ukulinganisela, nokukhuluma.

Ukwelashwa ngezakhi zofuzo kuyindlela entsha yokwelapha ezinye izinhlobo ze-leukodystrophies. Kuhilela ukufaka izinto zofuzo emaseli ukuze kushintshwe indlela akhiqiza ngayo amaprotheni athile.

Ukufakelwa i-stem cell noma ukufakelwa umnkantsha kungathuthukisa izimpawu zezinhlobo ezithile ze-leukodystrophy. Kodwa-ke, lokhu kwelashwa kusebenza kuphela ezimweni ezimbalwa kakhulu. Uma i-cerebrotendinous xanthomatosis (CTX) itholakala kusenesikhathi, ukwelashwa okubizwa ngokuthi i-chenodeoxycholic acid (CDCA) kungasetshenziswa ukuyelapha.

Ngaphezu kwalokho, kunezivivinyo eziningana zezokwelapha eziqhubekayo njengamanje ukuthola ukwelashwa kwezinhlobo ezithile ze-leukodystrophy. Ngakho-ke, uma wena noma ingane yakho ninalesi simo, ningakhuluma nodokotela wakho ukuze nibone ukuthi le ndlela entsha yokwelapha ikulungele yini.

Iyini isikhathi sokuphila nge-leukodystrophy?

Lesi yisihloko esinzima nesibucayi ukukhuluma ngaso. I-Leukodystrophy yisifo esiqhubekayo esibangela izinkinga ohlelweni lwezinzwa ngokuhamba kwesikhathi. Izingane eziningi ezine-leukodystrophy ziyafa zingakafiki ebudaleni. Kodwa-ke, abanye abantu baphila baze babe badala. Nakuba lezi zifo zivame ukubulala, ukwelashwa okusha kanye nezivivinyo zemitholampilo kuzilethele ithemba labo abanalesi simo.

Izinto ezibaluleke kakhulu okudingeka sizikhumbule (Umyalezo Wokuya Ekhaya)

I-Leukodystrophy yisifo esingavamile, esizuzwe njengefa ohlelweni lwezinzwa. Silimaza isembozo esivikelayo esibizwa ngokuthi i-myelin esizungeze izinzwa ebuchosheni nasemgogodleni. Ngaphandle kwe-myelin, izinzwa azikwazi ukuxhumana kahle, okubangela izimpawu ezahlukahlukene.

Nakuba kungekho ikhambi lalokhu okwamanje, kunemithi kanye nokwelashwa okuhlukahlukene ukulawula izimpawu nokwenza impilo ibe lula. Ucwaningo olusha lubonise imiphumela ephumelelayo ekwelapheni lezi zimo. Khumbula, ithimba lezokwelapha lengane yakho lihlala linawe, linikeza ingane yakho ukunakekelwa okungcono kakhulu. Kubaluleke kakhulu ukungesabi, ukufuna iseluleko sezokwelapha kusenesikhathi nokwazi ulwazi olufanele.

I- Leukodystrophy, i-myelin, izinto ezimhlophe, izifo zezinzwa, ukuguquka kwezakhi zofuzo, izifo zezingane, uhlelo lwezinzwa