Kungenzeka ukuthi uke wabona ingane ephilile, igijima futhi idlala, kancane kancane iba nobunzima bokuhamba noma ukukhuluma, noma ukuziphatha kwayo kushintsha kancane kancane. Njengomzali, lapho beyenza kahle ekuqaleni, bese bezwa sengathi amakhono engane yabo ayawohloka ngokuhamba kwesikhathi, kunzima ukusho ngamazwi ukwesaba nokukhathazeka okuzwayo. Isizathu salokhu kungaba yisifo esingavamile okungekho noyedwa kithi oke wezwa ngaso. Namuhla sikhuluma ngeqembu lezifo ezinjalo. Leyo yi -leukodystrophy .
Kalula nje, iyini i-leukodystrophy?
I-Leukodystrophy ayisona isifo esisodwa. Yiqembu lezifo ezithinta uhlelo lwethu lwezinzwa oluphakathi (okungukuthi, ubuchopho kanye nomgogodla). Odokotela bahlala bethola izinto ezintsha ngayo. Njengamanje, sekutholakale izinhlobo ezingaba ngu-52 zalesi sifo.
Eziningi zalezi zinhlobo ze-leukodystrophies ziyizakhi zofuzo . Okusho ukuthi, zizuzwe njengefa kubazali ezinganeni. Ngezinye izikhathi ingane ingabonisa izimpawu ngokushesha ngemva kokuzalwa. Kodwa-ke, ezinye izingane zingazalwa zinesici sezakhi zofuzo esihambisana nalesi sifo, kodwa ezigabeni zokuqala, zingase zibonakale ziphilile ngokuphelele.
Into ebalulekile ukuthi lezi zimo ziyathuthuka, okusho ukuthi ingane ephilile ekuqaleni ingase ibe nezimpawu kamuva.
Ziyini izimpawu zalesi sifo?
Zonke lezi zinhlobo ze-leukodystrophy zinento eyodwa efanayo: zilimaza i-myelin sheath ebuchosheni.
Cabanga ngentambo kagesi endlini yethu. Kukhona igobolondo lepulasitiki elizungeze intambo yethusi kulo, akunjalo? Yilokho okuvumela ugesi ukuthi uye lapho kudingeka uye khona, ngaphandle kokuvuza. Ngokufanayo, imizwa yethu inegobolondo elimhlophe elinamafutha elibizwa ngokuthi 'i-myelin' elizungezile. Le gobolondo le-myelin linesibopho sokuthwala imiyalezo yemizwa ngokunembile nangokushesha iye ebuchosheni futhi isuka ebuchosheni iye ezingxenyeni zomzimba. Uma le gobolondo le-myelin lonakele, isimiso sethu semizwa asikwazi ukusebenza kahle.
Uhlobo ngalunye lwe-leukodystrophy lulimaza lesi sigxobo se -myelin ngezindlela ezahlukene, ngakho-ke izinkinga izingane ezingase zibhekane nazo zingahluka kakhulu.
| Indawo yezimpawu | Izinkinga ezivamile zibonwe |
|---|---|
| Ukulinganisela komzimba kanye nokunyakaza | Ubunzima bokuhamba, ukuwa njalo, ukungakwazi ukulawula umzimba. |
| Ukuziphatha nokufunda | Ukukhubazeka kokufunda, ukulahlekelwa yinkumbulo, izinguquko zokuziphatha. |
| Ukukhula nentuthuko | Ukwehluleka ukubonisa ukukhula okufanele iminyaka (isib., ukukhuluma okulibazisekile, ukuhamba). |
| Umsebenzi wezinzwa | Ukwehla kancane kancane kokuzwa, ukubona, kanye nekhono lokukhuluma. |
| Ezinye izinkinga ezihlobene nezinzwa | Ubunzima bokuphefumula, izinkinga zokulawula umchamo, ukuxhuzula. |
Isibonelo, ohlotsheni olubizwa ngokuthi isifo iCanavan , imisipha yentamo yengane iyakhubazeka, kodwa izingalo nemilenze yayo ihlala iqinile. Bangase balahlekelwe umbono futhi babe nokuxhuzula.
Ngezinye izikhathi izimpawu zivela lapho umuntu ezalwa. Kodwa ohlotsheni olufana ne -Refsum Disease , izimpawu zivela cishe eminyakeni engama-20. Ngezinye izikhathi zingavela zisencane kakhulu eminyakeni engama-50. Izinto ezifana nobuthakathaka be-retina, ukulahlekelwa ukuzwa, kanye nokulahlekelwa iphunga zingabonakala kulokhu.
Ngenxa yokuthi izimpawu zihlukile kakhulu, kungaba nzima kancane ukuthola lesi sifo.
Kungani lolu hlobo lwesifo luvela? Iyini imbangela?
Njengoba sixoxile ngaphambili, eziningi zalezi zifo ziyizimo zofuzo . Lokhu kusho ukuthi zibangelwa ukukhubazeka kwezakhi zofuzo ezivela kumama noma kuyise, noma kokubili.
Kodwa ezinye izinhlobo azizuzwa njengefa. Zibangelwa ukuguquka kwezakhi zofuzo okusha. Isibonelo, isifo sika-Alexander asibonakali sizuzwa njengefa. Lokhu kusho ukuthi noma ngabe akekho kubazali onalesi sakhi sofuzo esinamaphutha, ingane isengasithola.
Ngakho-ke, nakuba ingane eyodwa emndenini ofanayo ingase ibe ne-leukodystrophy, ezinye izingane zingase zingabi nayo.
Uma omunye wezingane zakho ene-leukodystrophy futhi ulindele omunye umntwana, kubaluleke kakhulu ukuthola ukwelulekwa ngofuzo . Lokhu kuzokusiza ukuthi uqonde lokhu kanye nengozi yokuba nomntwana ozayo naye. Khuluma nodokotela wakho ngalokhu.
Odokotela basithola kanjani lesi sifo ngokunembile?
Ukuthola lesi sifo kuyinqubo eyinkimbinkimbi ngoba izimpawu ziyahlukahluka kakhulu. Ngakho-ke, odokotela kufanele benze izinhlobo eziningana zokuhlolwa.
| Uhlobo lokuhlola | Kalula nje... |
|---|---|
| Ukuhlolwa kwegazi nomchamo | Ukuthola ukukhubazeka ezinqubweni zamakhemikhali zomzimba. |
| Izikrini ze-MRI | Ukuthola izithombe ezicacile nezinemininingwane zobuchopho kanye nesistimu yezinzwa ukuze kuhlolwe umonakalo esikhumbeni se-myelin. |
| Ukuskena kwe-CT | Olunye ukuhlolwa kwezithombe ukuthola izinguquko esakhiweni sobuchopho. |
| Ukuhlolwa kofuzo | Ukuthola isici esithile sofuzo esibangela lesi sifo. |
| Ukuhlolwa kwengqondo nokwengqondo | Ukuhlola amakhono okucabanga, okufunda, kanye nenkumbulo yengane. |
Ingabe ikhona indlela yokwelapha lokhu?
Eqinisweni, akukho ikhambi eliqinisekile lezinhlobo eziningi ze-leukodystrophy. Kodwa-ke, lokhu akusho ukuthi akukho lutho olungenziwa.
Ngesikhathi sokwelashwa, odokotela bagxila ekulawuleni izimpawu nokugcina ikhwalithi yempilo yengane ingcono kakhulu ngangokunokwenzeka. Ukwelashwa kuncike ohlotsheni lwe-leukodystrophy ingane enayo.
Izindlela zokwelapha ezivamile yilezi:
- Ukunikeza imithi yokulawula izimpawu (isib., ukulawula ukuxhuzula).
- Ukwelashwa okukhethekile, njengokwelashwa ngokomzimba, ukwelashwa ngokomsebenzi, kanye nokwelashwa ngokukhuluma , kungasiza ekuthuthukiseni ukuhamba kwengane, ikhono lokwenza imisebenzi yansuku zonke, kanye nokukhuluma.
- Ezinye izingane zingadinga usizo olwengeziwe ngokufunda nokudla okunempilo .
Kwezinye izimo, ukufakelwa umnkantsha kunganciphisa noma kumise ukuqhubeka kwalesi sifo. Ososayensi bacwaninga futhi ngezindlela ezintsha zokwelapha, njengokwelashwa ngezakhi zofuzo .
Ngakho konke lokhu, into ebaluleke kakhulu ukuxhumana nodokotela wakho nokulandela imiyalelo yakhe.
Umlayezo Wokuya Nawe Ekhaya
- I-Leukodystrophy yiqembu lezifo ezingavamile zofuzo ezilimaza isembozo semizwa (i-myelin sheath) ebuchosheni.
- Ngisho noma ingane iphilile ekuqaleni, izimpawu zingase zivele kancane kancane ngokuhamba kwesikhathi futhi isimo singase sibe sibi kakhulu.
- Uma ubona ukwehla okungachazeki ekuhambeni, ekukhulumeni, ekuboneni, noma ekuziphatheni kwengane yakho, bona udokotela ngokushesha.
- Nakuba kungekho ukwelashwa okuqondile kwezinhlobo eziningi, kunezindlela zokwelapha zokulawula izimpawu nokuthuthukisa ikhwalithi yokuphila kwengane.
- Khuluma nodokotela wakho ngokukhululekile nganoma yikuphi ukwesaba, ukungabaza, noma imibuzo onayo.
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