Kodi muli ndi matenda osowa omwe amakhudza 'chinthu choyera' cha ubongo wanu? Tiyeni tikambirane za Leukodystrophy!

Kodi mudamvapo za liwu lakuti 'Leukodystrophy'? Lingamveke lachilendo pang'ono komanso lovuta kulitchula, sichoncho? Koma iyi ndi nkhani yokhudza matenda osowa omwe amakhudza mitsempha yathu, makamaka ubongo ndi msana, koma ndikofunikira kwambiri kuti tonse tidziwe. Nthawi zina timada nkhawa kwambiri ngati wina wapafupi nafe, mwana wamng'ono, atakhala ndi vutoli. Chifukwa chake, tiyeni tikambirane za izi lero, mwanjira yomwe mungamvetse.

Kodi leukodystrophy iyi ndi chiyani?

Mwachidule, leukodystrophy ndi gulu la matenda osowa amitsempha. Mitsempha ya muubongo ndi msana wathu (yomwe ili ngati mawaya amagetsi) imazunguliridwa ndi chophimba choteteza chomwe chimatchedwa myelin . Myelin iyi imathandiza mauthenga amitsempha kuyenda bwino komanso mwachangu. Madokotala amatchanso myelin layer iyi kuti ndi chinthu choyera.

Taganizirani ngati chivundikiro cha pulasitiki chozungulira waya wamagetsi. Ngati chivundikirocho chawonongeka, magetsi sakuyenda bwino, ndipo angayambitse 'kufupika'. Mofananamo, chivundikiro choteteza ichi chotchedwa myelin chikawonongeka, kapena chikapanda kupangidwa bwino, maselo athu amitsempha sangalankhulane bwino. Mauthenga sapita bwino. Chomwe chimachitika mu leukodystrophy ndichakuti myelin iyi imawonongeka nthawi zonse. Izi zimapangitsa kuti ntchito ya mitsempha isagwire bwino ntchito. Kulankhulana pakati pa ubongo ndi thupi lonse kumasokonekera.

Kodi vutoli ndi lofala bwanji?

Ndipotu, leukodystrophy si matenda ofala kwambiri. Mitundu yonse ya leukodystrophy ndi yosowa kwambiri. Mwachitsanzo, ku United States ndi Canada, mitundu yonse ya leukodystrophy pamodzi imakhudza mwana mmodzi mwa 6,000 ndi mmodzi mwa 100,000. M'mayiko a ku Asia, chiwerengero cha anthu omwe amabadwa ndi matendawa chimafika pa atatu mwa 100,000.

Kodi zizindikiro za leukodystrophy ndi ziti?

Ichi ndi chovuta kwambiri. Chifukwa zizindikiro za leukodystrophy zimatha kusiyana kwambiri. Zizindikiro zimasiyananso kutengera mtundu wa matenda. Komabe, m'mitundu yambiri ya leukodystrophy, pali kuchepa pang'onopang'ono kwa magwiridwe antchito a mitsempha . Izi zingayambitse zizindikiro zosiyanasiyana. Si aliyense amene ali ndi zizindikiro zonse.

Kawirikawiri, zinthu izi zingakhudze zinthu monga:

• Kuyenda bwino: Kulephera kuyenda bwino, kugwa pafupipafupi.
• Mphamvu: Kumva ngati ziwalo zanu zayamba kuchita dzanzi, kuvutika kunyamula kapena kugwira zinthu.
• Kuzindikira: Kuvutika kuphunzira, kukumbukira, ndi kuyang'ana kwambiri.
• Kudya ndi kumeza: Kuvuta kumeza chakudya, kutsamwidwa pafupipafupi.
• Kumva: Kutaya kumva.
• Kuyenda ndi kugwirizana: Kulephera kulamulira ziwalo bwino, kuvutika kuchita ntchito mwadongosolo.
• Kulankhula: Kusalankhula bwino, kulephera kulankhula bwino, kapena kutaya pang'onopang'ono luso lolankhula.
• Kuona: Kufooka kwa masomphenya, nthawi zina kutayika kwathunthu kwa masomphenya.

Taganizirani izi, ngati ndinu mwana wamng'ono, kukula kwa mwana wanu kungakhale kochedwa kuposa ana ena. Angakhale ochedwa kuphunzira zinthu zatsopano, kusewera, ndi kulankhula. Zonsezi zimachitika chifukwa chakuti myelin yawonongeka, ndipo mauthenga ochokera ku ubongo kupita ku thupi sakuyenda bwino.

Mitundu ingapo ya leukodystrophy

Ofufuza tsopano apeza mitundu yoposa 50 ya leukodystrophy. Ndipo akupezabe mitundu yatsopano. Mtundu uliwonse wa leukodystrophy umayamba chifukwa cha kusintha kwa majini osiyanasiyana. Ndiko kuti, kusintha kwa majini m'thupi lathu. Komanso, mtundu uliwonse uli ndi zizindikiro zosiyana. Zaka zoyambira zizindikiro zimasiyananso malinga ndi mtundu.

Tiyeni tiwone zitsanzo zina. Popeza zingatenge nthawi yayitali kufotokoza mitundu yonseyi, tingolankhula za ochepa mwa akuluakulu.

• Adrenoleukodystrophy (ALD): Izi zimakhudza zinthu zoyera za ubongo ndi msana, komanso ma adrenal glands, omwe amalamulira mahomoni athu. Zizindikiro nthawi zambiri zimayamba ali mwana kapena akakula. Mungaone zinthu monga mavuto ophunzirira, kusintha kwa masomphenya kapena kumva, kuvutika kuyenda, kutopa, ndi kuchepa thupi.

• Matenda a leukodystrophy (ADLD) omwe amayamba chifukwa cha autosomal-dominant leukodystrophy (ADLD) kwa akuluakulu: Izi nthawi zambiri zimachitika mwa anthu azaka za m'ma 40 kapena 50. Zimayambitsa mavuto a mphamvu, kuyenda, komanso kuzindikira. Zingakhudzenso zinthu monga kuthamanga kwa magazi ndi kugunda kwa mtima .

• Matenda a Alexander: Izi zimapangitsa ana kukhala ndi kuchedwa kukula, khunyu, komanso kuyenda movutikira. Nthawi zambiri zimakhudza makanda kapena ana aang'ono. Komabe, pali mitundu ina ya matenda a Alexander yomwe ingayambitse zizindikiro kwa akuluakulu.

• Matenda a ku Kanavan:Pankhaniyi, kukula kwa mwana kumachedwa, thupi limakhala lofooka, zimakhala zovuta kumeza chakudya, khunyu limachitika, mwanayo amakhala wosakhazikika nthawi zonse, ndipo kusintha kwa masomphenya kungachitike. Zizindikiro nthawi zambiri zimawonekera ali mwana. Komabe, pali mitundu ina ya matenda a agalu omwe amasonyeza zizindikiro pambuyo pake.

• Matenda a Krabbe: Amatchedwanso globoid cell leukodystrophy . Zizindikiro nthawi zambiri zimayamba ali aang'ono. Zimaphatikizapo kufooka, kuvutika kuyamwitsa, kusakhazikika, kuchedwa kukula, matenda amitsempha ( kusanza ndi kumva kuwawa m'miyendo), komanso khunyu. Nthawi zina zizindikiro zimatha kuwonekera mtsogolo.

• Metachromatic leukodystrophy: Izi zitha kuchitika mwa makanda, ana aang'ono, kapena akuluakulu. Zingayambitse kusintha kwa luso la kuganiza, khalidwe, kuwona kapena kumva, khunyu, matenda amitsempha, matenda amisala (dementia), komanso khungu.

Pali mitundu ina yambiri, monga Cerebrotendinous xanthomatosis (CTX) , Childhood ataxia yokhala ndi central nervous system hypomyelination (CACH) (yomwe imatchedwanso kuti vanishing white matter (VWM) disease ), Pelizaeus-Merzbacher disease (PMD) (yomwe imakhudza kwambiri anyamata), ndi Refsum disease .

Nchifukwa chiyani leukodystrophy imachitika?

Chifukwa chachikulu cha izi ndi kusintha kwa majini. Izi zikutanthauza kusintha kwa DNA m'matupi athu. Kusintha kumeneku kumachitika m'majini omwe amalangiza kupangidwa kwa chophimba choteteza ichi chotchedwa myelin, kapena momwe chimagwirira ntchito bwino. Popanda chophimba choteteza ichi, maselo amitsempha sangagwire ntchito bwino.

Kusintha kwa majini kumeneku nthawi zina kumatha kutengera kwa makolo kupita kwa ana awo. Izi zikutanthauza kuti, kumatha kuperekedwa kwa mibadwomibadwo. Komabe, nthawi zina kusintha kumeneku kumatha kuchitika mwachisawawa, pamene maselo akukula ndikugawikana.

Chofunika kwambiri, anthu ena akhoza kukhala ndi kusintha kwa majini komwe kumayambitsa leukodystrophy koma osayambitsa matendawa. Timawatcha kuti onyamula. Komabe, onyamula awa amatha kupatsira kusintha kwa majini kwa ana awo. Ngati ndinu onyamula kusintha kwa majini komwe kumayambitsa leukodystrophy, mungafunike kuganizira za upangiri wa majini . Mlangizi wa majini adzayang'ana mbiri ya banja lanu ndikukuthandizani kudziwa chiopsezo chanu chopatsira kusintha kwa majini kwa ana anu.

Kodi pali zinthu zilizonse zoopsa zomwe zimakhudza izi?

Ndipotu, palibe zinthu zinazake zomwe zingalepheretse leukodystrophy. Izi zili choncho chifukwa ndi ya majini. Komabe, mitundu ina ya anthu yapezeka kuti ili ndi mwayi wopeza mitundu ina ya leukodystrophy. Mitundu yambiri ya leukodystrophy imakhudza amuna ndi akazi mofanana. Komabe, mitundu ina, monga matenda a Pelizaeus-Merzbacher (PMD), imakhudza makamaka anyamata.

Kodi leukodystrophy imapezedwa bwanji?

Dokotala wanu adzakufunsani kaye za zizindikiro zanu ndikufunsani za mbiri yanu ya thanzi komanso ya banja lanu. Kenako adzakuyezani thupi lanu ndi kuyeza mitsempha.

Mukhozanso kuchita mayeso ena angapo:

• Mayeso oyezera ana obadwa kumene: M'mayiko ena, mayesowa amagwiritsidwa ntchito kuzindikira mitundu ina ya leukodystrophies.
• Kuyezetsa magazi ndi malovu ( kuyezetsa majini ): Izi zimatha kuzindikira kusintha kwa majini mu DNA yanu.
• Mayeso ojambula zithunzi: Mwachitsanzo , MRI scan ikhoza kuchitidwa kuti ione momwe zinthu zoyera zilili mu ubongo ndi msana.

Ngakhale mayeso onsewa, kuzindikira leukodystrophy nthawi zina kumakhala kovuta chifukwa zizindikiro zake zimakhala zosiyanasiyana. Nthawi zina, matenda ambiri a leukodystrophy sapezeka.

Kodi mankhwala a leukodystrophy ndi ati?

Ichi ndi chinthu chofunikira kwambiri chomwe tonsefe tiyenera kudziwa. Pakadali pano palibe mankhwala a leukodystrophy. Koma sizikutanthauza kuti palibe chomwe tingachite. Pali zinthu zambiri zomwe tingachite kuti tichepetse zizindikiro, kuti moyo ukhale wosavuta, ndikusunga ntchito zina za mitsempha.

Mankhwalawa angaphatikizepo:

• Mankhwala a khunyu, kulimba kwa minofu, ndi mavuto oyenda.
• Chithandizo cha zakudya kapena kugwiritsa ntchito machubu odyetsera ana chifukwa cha mavuto odya ndi kumeza.
• Chithandizo cha mahomoni pamavuto okhudzana ndi ntchito ya adrenal gland.
• Kuchiza thupi, chithandizo cha ntchito, ndi chithandizo cha kulankhula kuti muwongolere luso monga kuyenda, kulinganiza bwino, ndi kulankhula.

Chithandizo cha majini ndi njira yatsopano yochizira mitundu ina ya leukodystrophy. Chimaphatikizapo kulowetsa zinthu za majini m'maselo kuti asinthe momwe amapangira mapuloteni enaake.

Kuika maselo oyambira kapena kuyika mafupa kungathandize kuchepetsa zizindikiro za mitundu ina ya leukodystrophy. Komabe, chithandizochi chimagwira ntchito kokha pa milandu yochepa kwambiri. Ngati cerebrotendinous xanthomatosis (CTX) yapezeka msanga, chithandizo chotchedwa chenodeoxycholic acid (CDCA) chingagwiritsidwe ntchito pochiza.

Kuphatikiza apo, pali mayeso angapo azachipatala omwe akuchitika pakadali pano kuti apeze chithandizo cha mitundu ina ya leukodystrophy. Chifukwa chake, ngati inu kapena mwana wanu muli ndi vutoli, mutha kulankhula ndi dokotala wanu kuti muwone ngati njira yatsopanoyi ya chithandizo ndi yoyenera kwa inu.

Kodi nthawi ya moyo ndi yotani ndi leukodystrophy?

Nkhani imeneyi ndi yovuta komanso yovuta kukambirana. Leukodystrophy ndi matenda omwe amayamba pang'onopang'ono omwe amayambitsa mavuto ndi mitsempha pakapita nthawi. Ana ambiri omwe ali ndi leukodystrophy amafa asanafike msinkhu wachikulire. Komabe, anthu ena amakhala ndi moyo mpaka atakula. Ngakhale kuti matendawa nthawi zambiri amakhala oopsa, mankhwala atsopano ndi mayeso azachipatala abweretsa chiyembekezo kwa omwe ali ndi vutoli.

Zinthu zofunika kwambiri zomwe tiyenera kukumbukira (Uthenga Wopita Nawo Kunyumba)

Leukodystrophy ndi matenda osowa, obadwa nawo m'thupi la mitsempha. Amawononga chitetezo chotchedwa myelin chomwe chimazungulira mitsempha ya muubongo ndi msana. Popanda myelin, mitsempha singathe kulankhulana bwino, zomwe zimapangitsa kuti pakhale zizindikiro zosiyanasiyana.

Ngakhale kuti palibe mankhwala a izi pakadali pano, pali mankhwala ndi njira zosiyanasiyana zochepetsera zizindikiro ndikupangitsa moyo kukhala wosavuta. Kafukufuku watsopano wasonyeza zotsatira zabwino pochiza matenda awa. Kumbukirani, gulu lachipatala la mwana wanu limakhala nanu nthawi zonse, kupereka chisamaliro chabwino kwa mwana wanu. Ndikofunikira kwambiri kuti musachite mantha, kufunsa upangiri wa dokotala msanga komanso kudziwa zambiri zoyenera.

Leukodystrophy , myelin, zinthu zoyera, matenda amitsempha, kusintha kwa majini, matenda a ana, dongosolo lamanjenje