Matenda a Krabbe ndi matenda obadwa nawo omwe amakhudza mitsempha ya mitsempha ya mitsempha. Zimakhudza pafupifupi munthu mmodzi mwa anthu 1 aliwonse ndipo nthawi zambiri amakhudza makanda. Zimayamba chifukwa cha kusagwira bwino ntchito kwa enzyme yomwe imabweretsa kuwonongeka kwa sheath ya myelin.

Tanthauzo

Matenda a Krabbe ndi matenda obadwa nawo omwe amawononga sheath yomwe imazungulira ma cell a mitsempha (myelin) yapakati (ubongo ndi msana) ndi zotumphukira zamanjenje.

Nthawi zambiri, zizindikiro za matenda a Krabbe zimayamba mwa ana asanakwanitse miyezi 6, zomwe zimayambitsa imfa akafika zaka ziwiri. Pamene akukula ana okulirapo ndi akuluakulu, njira ya matendawa akhoza zosiyanasiyana.

Palibe chithandizo cha matenda a Krabbe, ndipo chithandizo chimangoyang'ana pa chithandizo chothandizira. Komabe, njira zoikamo maselo amtundu wa tsinde zasonyeza kupambana kwa makanda omwe amathandizidwa zizindikiro zisanayambe komanso mwa ana okulirapo ndi akuluakulu.

Matenda a Krabbe amakhudza pafupifupi munthu m'modzi mwa 1 aliwonse. Maonekedwe a makanda amakhala 100% ya milandu ya anthu akumpoto kwa Europe. Amadziwikanso kuti globoid cell leukodystrophy.

Zomwe zimayambitsa matenda a Krabbe

Matenda a Krabbe amayamba chifukwa cha kusintha kwa jini inayake (GALC) yomwe imapanga puloteni inayake (galactocerebrosidase). Kusapezeka kwa enzymeyi chifukwa cha kusinthaku kumabweretsa kudzikundikira kwa zinthu (galactolipids) zomwe zingawononge oligodendrocytes - maselo omwe ali pa chiyambi cha mapangidwe a myelin. Kutayika kotsatira kwa myelin (chodabwitsa chotchedwa demyelination) kumalepheretsa maselo a mitsempha kutumiza ndi kulandira mauthenga.

Ndani amakhudzidwa kwambiri?

Kusintha kwa jini komwe kumakhudzana ndi matenda a Krabbe kumangoyambitsa matendawa ngati wodwalayo ali ndi makopi osinthika a jini yotengera kwa makolo. Matenda obwera chifukwa cha makope awiri osinthika amatchedwa autosomal recessive disorder.

Ngati kholo lirilonse liri ndi kopi yosinthidwa ya jini, chiopsezo kwa mwana chingakhale motere:

• Chiwopsezo cha 25% chotengera makope awiri osinthidwa, zomwe zingayambitse matendawa.
• Chiwopsezo cha 50% chotengera cholowa chimodzi chosinthidwa. Mwana ndiye chonyamulira cha masinthidwe koma alibe matenda.
• Chiwopsezo cha 25% chotengera makope awiri abwinobwino a jini.

Kuzindikira matenda a Krabbe

Nthawi zina, matenda a Krabbe amapezeka mwa ana obadwa kumene ndikuyezetsa zizindikiro zisanawonekere. Komabe, nthawi zambiri, kuyambika kwa zizindikiro kumayambika kaye asanayesedwe, ndikufufuza zomwe zingayambitse.

Mayeso a Laboratory

Chitsanzo cha magazi ndi biopsy (chitsanzo chaching'ono cha khungu) chimatumizidwa ku labu kuti awone momwe enzyme ya GALC imagwirira ntchito. Mulingo wotsika kwambiri kapena zero ukhoza kuwonetsa kukhalapo kwa matenda a Krabbe.

Ngakhale kuti zotsatira zake zimathandiza dokotala kuti adziwe matenda, sizipereka umboni wa momwe matendawa angapitirire mofulumira. Mwachitsanzo, ntchito yotsika kwambiri ya GALC sizitanthauza kuti matendawa apita patsogolo mwachangu.

Electroencephalogram (EEG)

EEG yachilendo imatha kulimbikitsa lingaliro la matenda.

Mayesero ojambula

Dokotala wanu atha kuyitanitsa mayeso amodzi kapena angapo omwe amatha kuzindikira kutayika kwa myelin m'malo okhudzidwa a ubongo. Mayesowa akuphatikizapo:

• Magnetic Resonance Imaging, ukadaulo womwe umagwiritsa ntchito mafunde a wailesi ndi mphamvu yamaginito kupanga zithunzi za 3-D.
• Computerized tomography, ukadaulo wapadera wa radiology womwe umapanga zithunzi zamitundu iwiri.
• Kuphunzira kwa kayendedwe ka mitsempha, komwe kumayesa momwe mitsempha imatha kutumiza uthenga mwamsanga. Pamene myelin yomwe imazungulira mitsempha yawonongeka, kuyendetsa kwa mitsempha kumakhala pang'onopang'ono.

Mayeso a chibadwa

Kuyeza kwa majini kungapangidwe ndi magazi kuti atsimikizire kuti ali ndi matenda.

Kuyeza kwa majini kuti awone kuopsa kokhala ndi mwana yemwe ali ndi matenda a Krabbe kungaganizidwe nthawi zina:

• Ngati makolo amadziwika kuti ndi onyamula matendawa, atha kuyitanitsa kuyezetsa majini kuti adziwe ngati mwana wawo angadwale matendawa.
• Kaya kholo limodzi kapena onse awiri ndi omwe amanyamula GALC gene mutation chifukwa cha mbiri yabanja yodziwika bwino ya matenda a Krabbe.
• Ngati mwana apezeka ndi matenda a Krabbe, banja lingaganizire kuyezetsa majini kuti lizindikire ana awo ena omwe angadzadwale matendawa m’tsogolo.
• Onyamula odziwika, omwe amagwiritsa ntchito feteleza wa in vitro, amatha kupempha kuyezetsa ma genetic asanayikidwe.

Kuwunika kwatsopano

M'mayiko ena, kuyesa kwa matenda a Krabbe ndi gawo limodzi la magawo omwe amawunika ana obadwa kumene. Kuyesa koyang'ana koyamba kumayesa ntchito ya enzyme ya GALC. Ngati ntchito ya enzyme ili yochepa, mayesero otsatila a GALC ndi ma genetic amachitidwa. Kugwiritsa ntchito mayeso owunika mwa ana obadwa kumene ndikwatsopano.

Kusintha komanso zovuta zomwe zingachitike

Mavuto angapo - kuphatikizapo matenda ndi kupuma - amatha kukhala ndi ana omwe ali ndi matenda a Krabbe apamwamba. M’magawo omalizira a nthendayo, ana amapunduka, amakhala m’mabedi awo, ndipo mapeto ake amasanduka zomera.

Ana ambiri omwe amayamba matenda a Krabbe ali ana amamwalira asanakwanitse zaka 2, nthawi zambiri chifukwa cha kupuma kulephera kapena mavuto obwera chifukwa cha kutayika kwathunthu kwa kuyenda komanso kuchepa kwa minofu. Ana omwe amayamba matendawa akakula amatha kukhala ndi moyo wautali, nthawi zambiri pakati pa zaka ziwiri kapena zisanu ndi ziwiri atazindikira.

Zizindikiro zoyamba za matenda a Krabbe ali mwana amatha kufanana ndi matenda angapo kapena kukula. Choncho, ndikofunika kupeza matenda mwamsanga komanso molondola ngati mwana wanu ali ndi zizindikiro kapena zizindikiro za matendawa.

Zizindikiro ndi zizindikiro zomwe zimagwirizanitsidwa kwambiri ndi ana okulirapo ndi akuluakulu sizodziwika ku matenda a Krabbe ndipo zimafuna kuzindikira nthawi yake.

Mafunso omwe dokotala adzafunsa okhudza zizindikiro ndi awa:

• Ndi zizindikiro ziti zomwe mwawona? Anayamba liti?
• Kodi zizindikiro izi zasintha pakapita nthawi?
• Kodi mwaonapo kusintha kulikonse pa chisamaliro cha mwana wanu?
• Kodi mwana wanu ali ndi malungo?
• Kodi mwawona kukwiya kwachilendo kapena kopitilira muyeso?
• Kodi mwaona kusintha kulikonse kwa kadyedwe?

Mafunso, makamaka kwa ana okulirapo kapena akulu, angakhale:

• Kodi mwana wanu wakumanapo ndi kusintha kulikonse pamaphunziro awo?
• Kodi mumavutika ndi ntchito zanthawi zonse kapena ntchito zokhudzana ndi ntchito?
• Kodi mwana wanu akuthandizidwa pa vuto lina lililonse lachipatala?
• Kodi mwana wanu wayamba kumwa mankhwala atsopano posachedwapa?

Nthawi zambiri, zizindikiro za matenda a Krabbe zimawonekera m'miyezi yoyambirira pambuyo pobadwa. Amayamba pang'onopang'ono ndipo pang'onopang'ono amakula.

Zizindikiro ndi zizindikiro zofala kumayambiriro kwa matendawa (pakati pa miyezi iwiri ndi isanu ndi umodzi ya moyo) ndi izi:

• Kudyetsa zovuta
• Kukuwa kosadziwika bwino
• Kukwiya kwambiri
• Kutentha kopanda zizindikiro za matenda
• Kuchepetsa kukhala maso
• Kuchedwa mu magawo a chitukuko
• Mitundu ya misampha
• Kusawongolera mutu
• Kusanza pafupipafupi

Pamene matendawa akupita, zizindikiro zimakhala zovuta kwambiri. Akhoza kuphatikizapo:

• Kukula kwachilendo
• Kutayika kwapang'onopang'ono kwa kumva ndi kuwona
• Minofu yolimba komanso yolimba
• Pang'onopang'ono kutaya mphamvu ya kumeza ndi kupuma

Matenda a Krabbe akayamba ubwana (zaka 1 mpaka 8) kapena akakula (pambuyo pa zaka 8), zizindikiro zimatha kusiyana kwambiri ndipo zimaphatikizapo:

• Kuwonongeka kwapang'onopang'ono kwa masomphenya ndi kapena popanda peripheral neuropathy
• Kuvuta kuyenda (ataxia)
• Paresthesia ndi kutentha kumverera
• Kutaya luso lamanja
• Kufooka kwa minofu

Monga lamulo, zaka zoyambirira za matenda a Krabbe zimayamba, matendawa amakula mofulumira.

Anthu ena omwe amapezeka paunyamata kapena akakula angakhale ndi zizindikiro zochepa kwambiri, ndi kufooka kwa minofu kukhala vuto loyamba. Iwo sangakhale ndi kusintha kulikonse mu luso lawo lachidziwitso.

Ndikofunika kuti mwanayo azitsatira kuti ayang'ane kukula kwake, makamaka:

• kukula kwake
• Kamvekedwe ka minofu yake
• Mphamvu yake ya minofu
• Kugwirizana kwake
• Maonekedwe ake
• Mphamvu zawo zomverera (kuona, kumva ndi kukhudza)
• Zakudya zake

Kwa makanda omwe ali ndi zizindikiro za matenda a Krabbe, pakali pano palibe mankhwala omwe angasinthe njira ya matendawa. Chifukwa chake, chithandizo chimayang'ana kwambiri pakuwongolera zizindikiro komanso kupereka chithandizo chothandizira.

Zochitapo zikuphatikiza:

• anticonvulsant mankhwala kuti athetse khunyu;
• mankhwala kuthetsa spasticity minofu ndi irritability;
• physiotherapy kuchepetsa kuwonongeka kwa minofu kamvekedwe;
• mwachitsanzo pogwiritsa ntchito chubu chapamimba popereka madzi ndi zakudya m'mimba mwachindunji.

Zothandizira ana okulirapo kapena akuluakulu omwe ali ndi mitundu yocheperako ya matendawa angaphatikizepo:

• physiotherapy kuchepetsa kuwonongeka kwa minofu kamvekedwe;
• chithandizo chamankhwala kuti mupeze ufulu wambiri momwe mungathere ndi zochitika za tsiku ndi tsiku;
• Kuyika kwa maselo amtundu wa hematopoietic omwe amatha kusunga myelin popanga ma enzyme a GALC. Amachokera ku magazi a umbilical, fupa la mafupa kapena maselo ozungulira a magazi.

Thandizo lotere likhoza kupititsa patsogolo zotsatira za makanda ngati chithandizo chayambika zizindikiro zisanayambe, ndiko kuti, pamene atulukira matenda pambuyo poyezetsa wobadwa kumene. Makanda omwe alibe zizindikiro ndi kulandira tsinde cell transplant ndi pang'onopang'ono kukula kwa matendawa. Komabe, amavutikabe kwambiri ndi kuyankhula, kuyenda ndi luso lina lamagalimoto.

Ana okalamba ndi akuluakulu omwe ali ndi zizindikiro zochepa amathanso kupindula ndi mankhwalawa.