Ukhathazekile ngokukhula kobuchopho bengane yakho? Ake sixoxe nge-Metachromatic Leukodystrophy (MLD)

Njengoba kungenzeka ukuthi uke waphawula, ezinye izingane ezincane zikhula ngendlela ehlukile kunezinye. Kuvamile ukuthi umzali azizwe ecindezelekile kakhulu lapho eqala ukuhamba noma ukukhuluma, futhi aqaphele ukubambezeleka okuncane. Namuhla sizokhuluma ngesifo sofuzo esingaba nokucindezeleka okufanayo, kodwa esingavamile kakhulu. Sibizwa ngokuthi i-metachromatic leukodystrophy, noma i-MLD ngamafuphi. Nakuba igama lingase lizwakale liyinkimbinkimbi, ake sizame ukukugcina kulula.

Iyini le leukodystrophy ye-metachromatic (MLD)?

Kalula nje, `(MLD)` yisifo esingavamile kakhulu esibangelwa izakhi zofuzo. Sithinta kakhulu uhlelo lwethu lwezinzwa oluphakathi, okungukuthi, udaba olumhlophe lobuchopho kanye nomgogodla , kanye nemizwa engaphandle kwezitho zethu. `(MLD)` yisinye isifo esingaphansi kweqembu `(izifo zokugcina i-Lysosomal)`.

Manje ungase uzibuze ukuthi le nto emhlophe yonakala kanjani. Kukhona into enamafutha ebizwa ngokuthi `(Sulfatides)` ngaphakathi kwamaseli ethu. Lokhu kufanele kuvame ukuwohloka. Kodwa kumuntu one `(MLD)`, lawa `(Sulfatides)` aqoqana ngaphakathi kwamaseli. Uma lokhu kuqongelela, `(myelin sheath)`, okuyisembozo esivikelayo esizungeze imicu yezinzwa, ayikhuli kahle. Le sheath ye-myelin ifana nesheath yepulasitiki ezungeze ucingo. Le myelin yilokho okunikeza into emhlophe umbala wayo omhlophe.

Ngakho-ke, kwenzekani uma lesi sigxobo se-myelin sonakele? Ukusebenza kwengqondo yethu kanye nokusebenza kwemisipha, okungukuthi, ukunyakaza kwemisipha, kwehla kancane kancane. Izimpawu ze-``(MLD)`` ziba zimbi kakhulu ngokuhamba kwesikhathi, futhi ezimweni eziningi, ukufa kungenzeka eminyakeni embalwa yokuxilonga.

Lokhu kubizwa ngokuthi i-metachromatic leukodystrophy ngesizathu esikhethekile. Uma isazi sezifo sikubheka ngaphansi kwe-microscope, amaseli analawa ma-sulfatide amunca umbala ngendlela ehlukile kunamanye amaseli azungezile. Yingakho kubizwa ngokuthi "metachromatic." Igama elithi "Leukodystrophy" lisho ukubhujiswa kancane kancane kwezinto ezimhlophe ("leuco" lisho okumhlophe, kanti elithi "dystrophy" lisho ukubola).

Yiziphi izinhlobo eziyinhloko ze-`(MLD)`?

Kunezinhlobo ezintathu eziyinhloko zalesi sifo (i-MLD). Lezi zihlukaniswe ngokweminyaka ezikhula ngayo.

I-MLD yosana ephuzile

Lolu uhlobo oluvame kakhulu lwe-MLD. Ngokuvamile luthinta izingane eziphakathi kwezinyanga ezingu-12 no-20 ubudala, noma cishe unyaka nesigamu. Izimpawu zifaka phakathi ubunzima bokuhamba, ukubambezeleka kokukhula, ubumpumputhe, kanye ne-dementia. Ngokudabukisayo, izingane eziningi ezinalesi simo ziyafa zingakafiki eminyakeni emi-5. Cishe ama-50% kuya kuma-60% eziguli ze-MLD awela kulesi sigaba.

I-Juvenile MLD (MLD)

Lolu hlobo luvame ukubaKuthinta izingane eziphakathi kweminyaka emi-3 neyi-10. Lezi zingane zingase zibonise izimpawu ezifana nokukhubazeka kwengqondo, izinkinga zokuziphatha, ukuquleka, kanye ne-dementia. Ingane enalolu hlobo lwe-MLD ingashona zingakapheli iminyaka eyi-10 kuya kwengama-20 ngemva kokuxilongwa. Cishe ama-20% kuya kuma-30% eziguli ze-MLD awela kulesi sigaba.

I-MLD Yabantu Abadala

Ngokuvamile kuqala ngemva kweminyaka engu-16, okungukuthi, ebusheni noma kamuva. Izimpawu zifaka phakathi izinguquko zengqondo, ukuquleka, kanye ne-dementia. Ukufa kungenzeka phakathi kweminyaka engu-6 nengu-14 ngemva kokuxilongwa. Cishe u-15% kuya ku-20% weziguli ze-MLD ziwela kulesi sigaba.

Singavamile kangakanani lesi sifo `(MLD)`?

Yebo, i-MLD iyisifo esingavamile. Ngokusho kwabacwaningi, ithinta cishe umuntu oyedwa kwabangu-40,000 e-United States. Kodwa-ke, ivame kakhulu kwezinye izindawo ezihlukanisiwe. Isibonelo, abantu baseNavajo batholakale benesilinganiso somuntu oyedwa kwabangu-2,500.

Ziyini izimpawu zesifo `(MLD)`?

Izimpawu ze-MLD zingahluka kuye ngohlobo lwazo. Kodwa ngokuvamile, zonke izinhlobo ziyawohloka kancane kancane ukusebenza kwesimiso sezinzwa. Lokhu kusho ukuthi izinto ezifana nokunyakaza kwemisipha, ukuhlakanipha, imizwa, kanye nobuntu ziyathinteka.

Izimpawu ze-MLD yobuntwana esekupheleni kwesikhathi

Izingane ezinalolu hlobo lwe-`(MLD)` zingase zibonakale zikhula kahle ekuqaleni, kodwa ngemva konyaka, ziqala ukukhombisa lezi zimpawu:

• Kuba nzima ukuhamba , ekugcineni kube nzima ukuhamba nhlobo.
• Ubuthakathaka bemisipha (hypotonia) buyenzeka.
• Kuyabonakala ukubambezeleka kokukhula .
• Ubunzima bokukhuluma (i-dysarthria).
• Kancane kancane , ukubona kuyalahleka futhi ubumpumputhe buyenzeka.
• Ubunzima bokugwinya (i-dysphagia).
• I-dementia iyenzeka.

Izimpawu ze-MLD yentsha

Izingane ezinalolu hlobo lwe-MLD zingase zibonise izimpawu ezifana nalezi:

• Amakhono obuhlakani ayawohloka. Lokhu kungase kubonakale emsebenzini wesikole.
• Izinkinga zokuziphatha ziyavela.
• Izinguquko zobuntu ziyabonakala.
• Ukungakwazi ukulawula ukunyakaza kwemisipha.
• Kuvela i-peripheral neuropathy.
• Kuza ukuquleka.
• I-dementia iyenzeka.

Izimpawu ze-MLD yabantu abadala

Izinguquko zengqondo ziyizimpawu eziyinhloko ezibonakala kubantu abadala abane-MLD.Izinkinga zokunyakaza komzimba zingase zingabi khona noma zibe zincane. Izimpawu zokuqala zingase zibe ukuphazamiseka kokusebenzisa utshwala, ukuphazamiseka kokusebenzisa izidakamizwa, noma izinkinga esikoleni/emsebenzini.

Ezinye izici yilezi:

• Izinkinga zengqondo, njengokubona izinto ezingekho, ukuphazamiseka kwengqondo, noma i-schizophrenia .
• Ukuquleka.
• I-peripheral neuropathy.
• Isifo sokulahlekelwa yingqondo.

Ngezinye izikhathi odokotela bangase bahlole i-MLD kubantu abadala njengesifo sokuphazamiseka kwengqondo noma i-dementia.

Yini ebangela `(MLD)`?

Imbangela eyinhloko ye-MLD ukuguquka kwezakhi zofuzo okuzuzwe kubazali bobabili.

Iziguli eziningi ze-MLD zine-mutation ku-ARSA gene. Le gene iyala ukukhiqizwa kwe-enzyme ebizwa ngokuthi i-Arylsulfatase A. Le enzyme isiza ekuhlukaniseni ama-sulfatide ashiwo ngenhla. Ngakho-ke, ngenxa ye-mutation ye-gene, abantu abane-MLD abayikhiqizi le enzyme, noma bayikhiqize kancane kakhulu. Ngenxa yalokho, ama-sulfatide ayaqoqana. Lokhu kuqongelela kwama-sulfatide kuyingozi ku-white matter yesimiso sezinzwa, kulimaza lawo maseli.

Ezinye iziguli ze-MLD zingase zibe nokuguquka kwezakhi zofuzo ze-PSAP, okunikeza nemiyalelo yokuphula ama-sulfatide.

Ingabe lokhu kuyinto evela ezizakhini zofuzo?

Yebo, `(MLD)` yisifo esibangelwa izakhi zofuzo. Sizuzwa njengefa ngendlela `(autosomal recessive)`. Lokhu kusho ukuthi bobabili abazali bomuntu onalesi sifo baphethe ikhophi eyodwa yalesi sakhi sofuzo esiguquliwe (`(abathwali)`). Kodwa-ke, labo bazali ngokuvamile ababonisi izimpawu. Ukuze ingane ibe nalesi sifo, lesi sakhi sofuzo esingenasici kumele sizuzwe njengefa kumama nakubaba.

Yimiphi imiphumela emibi engaba khona ye-`(MLD)`?

Imiphumela emibi eyinhloko engenzeka ngenxa ye-`(MLD)` yile:

• Ukwehla kwe-neurocognitive (dementia)
• Ubumpumputhe obubangelwa ukuwohloka kwemizwa yokukhanya.
• Ukungondleki kahle.
• I-pneumonia yokuphefumula ibangelwa ukudla noma uketshezi olungena emgudwini womoya .
• Ukufa.

Itholakala kanjani i-MLD?

Uma udokotela (ngokuvamile udokotela wezinzwa) esola ukuthi une-MLD ngokusekelwe ezimpawini zakho noma zengane yakho, angase acele ukuhlolwa okufana nalokhu:

• Ukuhlolwa kwezakhi zofuzo: Lokhu kungabona izinguquko ezakhiweni zofuzo ``ARSA'' kanye ``PSAP'' ezibangela ``MLD''.
• Ukuhlolwa kwe-biochemical:Lokhu kungalinganisa izinga le-`(Sulfatides)` emzimbeni wakho. Isibonelo, umsebenzi we-enzyme ye-`(Sulfatase)` kanye namazinga e-`(Sulfatides)` emchameni ayahlolwa.
• I-Brain MRI: Lokhu kusiza ukuqinisekisa ukuxilongwa kwe-MLD. Njengoba abantu abane-MLD benendlela ethile yokulahlekelwa yi-myelin, i-MRI ingasetshenziswa ukuthola ukuthi i-myelin ikhona noma cha.

Uma usutholakale une-MLD, ungase ucelwe ukuthi wenze ezinye izivivinyo ukuze ubone ukuthi lesi sifo sithinte kangakanani uhlelo lwakho lwezinzwa. Lokhu kufaka phakathi:

• Ukuhlolwa kwe-neurocognitive.
• Ukuhlolwa kwe-neuropsychological.
• Ukuhlolwa kokuqhuba kwemizwa.

Yiziphi izindlela zokwelapha `(MLD)`?

Ngeshwa, ayikho ikhambi le-MLD. Umgomo oyinhloko wokwelashwa ukulawula izimpawu nokuthuthukisa ikhwalithi yokuphila. Odokotela bangase batuse ukufakelwa kwamaseli okuqala ukuze kuncishiswe ukuqhubeka kwesifo, kungaba ngaphambi kokuba kuvele izimpawu noma ezinganeni ezinezimpawu ezincane.

Izinhlobo ezahlukene zemithi zinganikezwa ukulawula izimpawu, njenge:

• Imithi yokulwa nokuxhuzula.
• Yehlisa ukuqina kwemisipha (ukuqaqamba kwemisipha) (iziphumuli zemisipha).
• Ama-antidepressant ezinkinga zengqondo.
• Ama-NSAID kanye neminye imithi yokwelapha izinhlungu.

Ezinye izindlela zokwelapha ezingasetshenziswa zifaka:

• Ukwelashwa ngokomzimba ukuze kuncishiswe amandla emisipha nokuqina kwayo.
• Ukwelashwa emsebenzini ukusiza ngemisebenzi yansuku zonke.
• Ukwelashwa kwenkulumo kwezinkinga zokukhuluma nokugwinya.
• Ukwelashwa kwengqondo kwezinkinga zempilo yengqondo.
• I-Percutaneous endoscopic gastronomy (PEG) iyindlela yokondla ngepayipi esiswini ngenxa yezinkinga zokudla nezinkinga zokudla.

Wena noma ingane yakho ningafanelekela ukunakekelwa kwe-palliative . Ukunakekelwa kwe-palliative ukunakekelwa okunikeza impumuzo ezimpawini, induduzo, kanye nokusekelwa kwabantu abanezifo ezingathi sína njenge-MLD. Kuphinde kunikeze impumuzo ebalulekile kulabo abanakekela isiguli. Kungenziwa kanye nezinye izindlela zokwelapha ze-MLD.

Kwenzekani kumuntu onesifo `(MLD)`? (Intuthuko yesifo)

Isibikezelo se-MLD asisihle neze. Kuyisifo esiqhubekayo. Lokhu kusho ukuthi izimpawu ziyasakazeka futhi ziba zimbi kakhulu. Umuntu one-MLD ulahlekelwa ukusebenza kwemisipha nengqondo ngokuphelele, futhi ekugcineni uyafa.

Ungaphila isikhathi esingakanani ne-`(MLD)`?

Ukuthi umuntu one-MLD uhlala isikhathi esingakanani kuncike eminyakeni lapho lesi sifo sitholakala khona okokuqala.

• Ifomu lobuntwana elisemuva kwesikhathi:Ukufa kuvame ukwenzeka phakathi neminyaka emihlanu kuya kweyisithupha yokuxilongwa.
• Uhlobo lwentsha: Lolu hlobo lwesifo aluvamile futhi luvame ukuholela ekufeni phakathi kweminyaka eyi-10 nengama-20 ngemva kokuxilongwa.
• Uhlobo lomuntu omdala: Ukufa kuvame ukwenzeka phakathi kweminyaka engu-6 nengu-14 ngemva kokuxilongwa.

Ingabe ikhona indlela yokuvimbela `(MLD)`?

Ngenxa yokuthi i-MLD iyisifo esibangelwa izakhi zofuzo, akukho lutho olungenziwa ukuyivimbela.

Kodwa-ke, uma othile emndenini wakho ene-MLD futhi uhlela ukuba nomntwana, kungumqondo omuhle ukufuna ukwelulekwa ngofuzo ukuze uthole ukuthi nawe ungumthwali walolu shintsho lofuzo.

Umnakekela kanjani umuntu one-`(MLD)`? / Wenzani uma wena noma ingane yakho ine-`(MLD)`?

Uma wena noma ingane yakho ine-MLD, kubalulekile ukuthola ukunakekelwa kwezokwelapha okungcono kakhulu. Udinga ukuyimela futhi ube nentshisekelo ngayo. Kungaleso sikhathi kuphela lapho ungagcina khona izinga lempilo elihle kakhulu.

Futhi, kubaluleke kakhulu ukujoyina iqembu lokusekelana ukuze uhlangane nabanye abanokuhlangenwe nakho okufana nokwakho futhi wabelane ngemibono.

Kufanele ubonane nini nodokotela?

Uma wena noma ingane yakho ine-MLD, kufanele nihlangane nethimba lakho lezokwelapha njalo ukuze nibone ukuthi lesi sifo siqhubeka kanjani futhi nilungise uhlelo lwenu lokwelashwa njengoba kudingeka.

Ukuxilongwa kwe-(MLD) kungaba yinto exakile. Kodwa-ke, ithimba lakho lezokunakekelwa kwempilo lingakusiza ukuthi wakhe uhlelo lokuphatha izimpawu olukusebenzelayo. Kubalulekile ukuqinisekisa ukuthi uthola ukwesekwa okudingayo futhi uhlale uqaphile impilo yakho. Khumbula, ithimba lakho lezokunakekelwa kwempilo lihlala likhona ukukusiza wena nomndeni wakho.

Uma sihlanganisa izinto esikhulume ngazo (Umyalezo Wokuya Ekhaya)

Kulungile, ngakho sixoxe kakhulu nge-`(Metachromatic Leukodystrophy - MLD)` namuhla, akunjalo?

Kalula nje, `(MLD)` yisifo esingavamile kakhulu, esibangelwa izakhi zofuzo. Silimaza into emhlophe yobuchopho kanye nesimiso sezinzwa. Sibangelwa ukuqongelela kohlobo lwamafutha olubizwa ngokuthi `(Sulfatides)` ngaphakathi kwamaseli.

Kunezinhlobo ezintathu zalesi sifo – usana, umuntu omdala, kanye nomntwana. Ngayinye inezimpawu ezahlukene kanye nokuqhubeka kwaso.

Ngeshwa, ayikho ikhambi lalesi sifo. Kodwa-ke, kunezindlela zokwelapha ezahlukahlukene ezingasiza ekulawuleni izimpawu nokugcina impilo isezingeni elihle. Ukufakelwa kwamaseli e-stem ngezinye izikhathi kungasiza ekulawuleni ukusabalala kwalesi sifo.

Nakuba lesi kuyisifo sofuzo futhi singenakuvinjelwa, ukwelulekwa ngofuzo kubalulekile uma kunomlando womndeni.

Into ebaluleke kakhulu ukunikeza ukunakekelwa nokusekelwa okungcono kakhulu kumuntu onesifo.Ukwelashwa okufanele kwezokwelapha, ukunakekelwa kokunciphisa ubuhlungu, kanye nothando nokunakwa komndeni konke kubaluleke kakhulu. Awuwedwa, futhi kukhona odokotela, abeluleki, namaqembu okusekela ukukusiza kulolu hambo.

I - leukodystrophy ye-Metachromatic, i-MLD, izifo zofuzo, izifo zezinzwa, izinto ezimhlophe, i-myelin, izifo zezingane