Akukho ubuhlungu obukhulu kumama noma kubaba njengokubona ingane yabo iwohloka kancane kancane phambi kwamehlo abo. Ingane ebigijima idlala ngokuzumayo iqala ukuthuthumela ngesimo esifana nokuxhuzula, noma ibona ukucabanga kwayo nokufunda kwayo kuncipha kancane kancane, kunzima ukusho ngamazwi ukwesaba nokushaqeka okuzwayo. Leso yisifo esinzima kakhulu nesingavamile kakhulu esizokhuluma ngaso namuhla. Lesi sifo yi-Alpers Disease, noma `(Alpers Disease)`.
Kalula nje, siyini isifo i-Alpers?
Isifo i-Alpers yisifo esingavamile esithinta i-mitochondria, okuyizitshalo zamandla ezincane ezinika amandla amaseli ethu. Cabanga ngakho sengathi kunamabhethri amaningi amancane ngaphakathi kweseli ngalinye emzimbeni wethu, futhi lawo mabhethri yiwo anika lawo maseli amandla awadingayo ukuze asebenze. Okwenzekayo esifweni i-Alpers ukuthi la mabhethri, i-mitochondria, awasebenzi kahle.
Lokhu kulahlekelwa amandla kulimaza kakhulu izitho ezintathu ezibaluleke kakhulu emzimbeni wethu.
1. Ubuchopho: I-dementia ingenzeka ngenxa yokusebenza kobuchopho okungasebenzi kahle, okuholela ekulahlekelweni yinkumbulo.
2. Isibindi: Ukusebenza kwesibindi kungase kume ngokuphelele, okuholela ekungasebenzi kahle kwesibindi.
3. Imisipha: Ukuquleka kungenzeka ngenxa yokusebenza okungajwayelekile kukagesi ebuchosheni.
Izimpawu zalesi sifo zivame ukuvela kunoma yimuphi ubudala, kusukela enyangeni eyodwa kuya eminyakeni engama-36. Kodwa-ke, zivame ukubonwa ebuntwaneni, ikakhulukazi phakathi kweminyaka emi-2 nengu-4. Ngezinye izikhathi, lesi sifo singabonakala nasebancane, okungukuthi, phakathi kweminyaka eyi-17 nengu-24. Ngokudabukisayo, lesi yisimo esibi kakhulu, futhi sivame ukuphela ngokufa.
Lesi sifo sibangelwa ukukhubazeka kwezakhi zofuzo esikuzuza njengefa kusukela ekuzalweni. Lokhu kusho ukuthi noma ingane inazo izakhi zofuzo zalesi sifo emzimbeni wayo lapho izalwa, kungathatha amasonto, izinyanga, noma ngisho neminyaka ukuba izimpawu zivele.
Isifo sika-Alpert saziwa ngamanye amagama amaningana:
- I-Alpers-Huttenlocher syndrome
- I-Alpers syndrome
- I-poliodystrophy yezinsana eziqhubekayo
Ubani othola lesi sifo? Sivame kangakanani?
Noma ubani ozuza ifa lofuzo olunephutha olubangela isifo i-Alpers angaba nalesi sifo. Sithinta bobabili ubulili ngokulinganayo, kungakhathaliseki ubulili.
Kodwa ungakhathazeki, lesi yisifo esingavamile kakhulu. Isilinganiso sokwanda kwalesi sifo cishe singu -1 kwabayi-100,000 . Kuthiwa futhi sivame kakhulu kubantu bozalo lwaseNyakatho Yurophu.
Kungani isifo sika-Alper senzeka? Iyini imbangela?
Isizathu esiyinhloko salokhu ushintsho, noma ukuguquka kwezakhi zofuzo okuthiwa i-'POLG1' emzimbeni wethu. Lokhu kuyinto edluliselwa ezizukulwaneni ngezizukulwane.
Kalula nje, kunje. Ukuze wakhe umntwana, udinga ukuthola isakhi sofuzo kumama wakho kanye nesakhi sofuzo kuyise. Ukuze uthole isifo i-Alpers, ingane kumele ithole isakhi sofuzo esinephutha 'POLG1' kumama nakubaba. Ngisho noma bobabili abazali bengabathwali besakhi sofuzo esinephutha, bangase bangabi nazimpawu. Kodwa uma ingane izuza izakhi zofuzo zombili ezinephutha kuzo zombili, ingane izoba nesifo i-Alpers.
Njengoba sixoxile ngaphambili, lokhu kuphazamiseka kwezakhi zofuzo ze-'POLG1' kubangela ukuthi i-DNA ekwi-mitochondria, izikhungo zamandla zamaseli ethu, ingasebenzi kahle. Yingakho izitho zomzimba ezidinga amandla amaningi, njengobuchopho, isibindi, nemisipha, zithinteka kakhulu.
Abanye abacwaningi bakholelwa ukuthi uma isici sendawo esizungezile, njengegciwane, sithinta umuntu ozuza la ma-gene anephutha, singabangela nokuthi lesi sifo sikhule.
Ziyini izimpawu zalesi sifo?
Izimpawu zesifo sika-Alpert zingahluka ngokuhamba kwesikhathi. Zingahlukaniswa zibe izimpawu zokuqala kanye nalezo ezibonakala njengoba isifo siqhubeka.
Uphawu lokuqala oluvame ukubonakala yisifo sokuwa esingalawuleki, okunzima ukusilawula ngokwelashwa.
Ake siqonde lezi zimpawu ngokucacile kusukela kuthebula elingezansi.
| Uhlobo lwesibonakaliso | Izinto okufanele uzibone |
|---|---|
| Izimpawu eziyinhloko nezisekuqaleni |
|
| Ezinye izimpawu zokuqala | |
| Izimpawu ezenzeka njengoba isifo siqhubeka |
Odokotela basithola kanjani lesi sifo?
Udokotela wakho uzohlola ngokucophelela izimpawu zengane yakho, enaka kakhulu izimpawu ezintathu eziyinhloko esixoxe ngazo ekuqaleni : ukulahlekelwa yinkumbulo, isifo sesibindi, kanye nesifo sokuwa .
Ngaphezu kwalokho, kwenziwa ezinye izivivinyo eziningana ukuqinisekisa ukuxilongwa.
| Ukuhlolwa | Indlela yokukwenza nokuthi yini okufanele uyazi |
|---|---|
| Ukuhlaziywa koketshezi lwe-cerebrospinal | Umpompi womgogodla uhilela ukufaka inalithi encane kakhulu emhlane wakho ongezansi bese ususa inani elincane loketshezi oluzungeze ubuchopho bakho. Lolu ketshezi luhlolwa ukuze kubonakale ukuthi kukhona yini ukuntuleka kwamakhemikhali athile obuchopho. |
| Ukuhlolwa kwe-EEG `(i-Electroencephalography)` | Amapuleti amancane ensimbi (ama-electrode) anamathiselwe ekhanda ukuze kulinganiswe umsebenzi kagesi wobuchopho. Ukuhlolwa kwe-EEG kungabonisa ukuthi umsebenzi wobuchopho womuntu onesifo i-Alpers uyehla. |
| Ukuhlolwa kofuzo | Kuthathwa isampula yegazi bese kuhlolwa ukulandelana kwezakhi zofuzo. Lokhu kungakhomba ngokunembile ukuthi kukhona yini izinguquko ku-gene ye-`POLG1`. |
| Ukuskena kwe-MRI `(Ukufanekisa Ukuzwakala Kwamagnetic)` | Ukuhlolwa kobuchopho nge-MRI kungabonisa ukwanda kwe-grey matter ebuchosheni bomuntu onesifo i-Alpers. |
Ingabe ikhona indlela yokwelapha lokhu?
Ngokudabukisayo, akukho ukwelashwa okutholiwe kuze kube manje ukwelapha isifo sika-Alpert noma ukuvimba ukuqhubeka kwalesi sifo.
Kodwa-ke, kunezindlela zokwelapha ezahlukahlukene ezingasiza ekuphatheni izimpawu, ukunciphisa ukungakhululeki, nokuthuthukisa ikhwalithi yokuphila. Udokotela wakho angase ancome izindlela zokwelapha ezifana nalezi:
- Imithi yokulawula izimo zesifo sokuwa: Kunikezwa imithi yokulwa nokuwa ukuze kuncishiswe ukwenzeka kokuwa.
- Ukuze uthole ukudla okunempilo kanye nomswakama: Uma unenkinga yokugwinya ukudla, ipayipi (i-percutaneous endoscopic gastrostomy) lingafakwa esiswini sakho ukuze likunikeze ukudla kanye noketshezi.
- Ukudla: Ukudla okuneprotheyini ephansi, ukudla okuncane njalo.
- Ukwelashwa ngokomzimba: Ukuzivocavoca kanye nokwelashwa kokunciphisa ukuqina kwemisipha nokuqinisa imisipha.
- Ukwelashwa Komsebenzi: Ukuqeqeshwa ukwenza imisebenzi yansuku zonke ngokuzimela.
- Ukwelashwa ngenkulumo: Kusiza ngezinkinga zokukhuluma.
- Ama-painkiller kanye nama-muscle relaxer: Kunikezwa imithi yokunciphisa ubuhlungu kanye nokuqina kwemisipha.
- Ukusekelwa kokuphefumula: Uma kuvela ubunzima bokuphefumula, ukuphefumula kusiza ngemishini efana ne-`CPAP` noma i-`BiPAP®`, noma uma kudingeka, nge-`(tracheostomy).`
Futhi, udokotela wakho uzokwenza ukuhlolwa kwegazi okuhlukahlukene (njengokubalwa kwegazi okuphelele - i-CBC`, `ukuhlolwa kokusebenza kwesibindi`) njalo ezinyangeni ezimbalwa ukuze aqaphe isimo sesiguli futhi alungise ukwelashwa njengoba kudingeka.
Uma unakekela ingane egulayo...
Siyazi ukuthi lolu uhambo olunzima kakhulu. Njengoba isifo siqhubeka, wena nomntanakho ningadinga ukwesekwa okwengeziwe. Kunochwepheshe abaningi nezinsizakalo ezingakusiza kulolu hambo.
- Ochwepheshe: Ungacela usizo kodokotela bezifo zamathumbu, ochwepheshe bezokudla, kanye nodokotela bezifo zengqondo.
- Isevisi Yokunakekela Abahlengikazi Ekhaya: Ezimweni zokugula okukhulu, abasebenzi abaqeqeshiwe bokunakekela abahlengikazi bangabizwa ukuba beze ekhaya lakho banakekele ingane yakho.
- Amaqembu okunakekela okwelapha ubuhlungu: La maqembu asiza ekuhlinzekeni ukwesekwa namandla engqondo adingekayo ukugcina ingane ikhululekile futhi ingenabuhlungu phakathi nezigaba zokugcina zesifo.
Khumbula, awuwedwa. Kunamaqembu okusekela abazali bezingane ezinesifo i-Alpers nezinye izifo ze-mitochondrial. Ungabelana ngolwazi, wabelane ngezinsiza, futhi uthole iseluleko osidingayo.
Isifo sika-Alpert yisimo esiqhubekayo esivame ukwenzeka phakathi kweminyaka engu-4 nengu-10 ngemva kokuqala kwezimpawu.
Uma wazi ukuthi lesi sakhi sofuzo sisebenza emndenini wakho futhi ulindele umntwana, kubaluleke kakhulu ukuhlangana nokukhuluma nomeluleki wezakhi zofuzo. Bazokunikeza iseluleko nokusekelwa okudingayo.
Umlayezo Wokuya Nawe Ekhaya
- Isifo i-Alpers siyisifo esingavamile kakhulu nesinzima esithinta i-mitochondria.
- Lokhu kuthinta kakhulu ubuchopho, isibindi kanye nemisipha, kanti izimpawu eziyinhloko ukuxhuzula, ukwehluleka kwesibindi kanye nokulahlekelwa yinkumbulo.
- Nakuba kungekho ukwelashwa kwalesi sifo, kunezindlela eziningi zokwelapha ezisekelayo ezitholakalayo zokuphatha izimpawu nokunikeza induduzo esigulini.
- Njengoba lesi kuyisimo sofuzo, ayikho indlela yokunciphisa ingozi. Uma kunomlando womndeni, ukwelulekwa ngofuzo kubaluleke kakhulu.
- Ukunakekela ingane egula kanjena kuwumsebenzi onzima kakhulu, ngakho ukuthola ukwesekwa kodokotela, izinsizakalo zobuhlengikazi kanye namaqembu okusekela kuzokusiza.
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