Chirwere cheKrabbe chirwere chakagara nhaka chinokanganisa tsinga dzetsinga. Inobata munhu mumwe chete pavanhu 1 uye kazhinji inobata vacheche. Inokonzerwa nekusashanda kwe enzyme inoguma nekukuvadza kune myelin sheath.

tsananguro

Chirwere cheKrabbe chirwere chinogarwa nhaka chinoparadza sheath inotenderedza masero etsinga (myelin) epakati (brain and spinal cord) uye peripheral nervous system.

Kazhinji, zviratidzo uye zviratidzo zvechirwere cheKrabbe zvinokura muvana vasati vava nemwedzi mitanhatu, kazhinji zvichiita kuti vafe nemakore maviri. Kana ichikura muvana vakwegura nevakuru, chirwere chechirwere chinogona kusiyana zvakanyanya.

Iko hakuna mushonga wechirwere cheKrabbe, uye kurapwa kwakanangana nerutsigiro rwekuchengetedza. Nekudaro, nzira dzekuchinjisa masero dzakaratidza kumwe kubudirira muvacheche vanorapwa zviratidzo zvisati zvatanga uye mune vamwe vana vakura nevakuru.

Chirwere cheKrabbe chinokanganisa anenge 1 mu100 vanhu. Fomu yevacheche inotora 000% yezviitiko muhuwandu hwekuchamhembe kweEurope. Iyo inozivikanwawo se globoid cell leukodystrophy.

Zvikonzero zvechirwere cheKrabbe

Chirwere cheKrabbe chinokonzerwa nekuchinja mune imwe gene (GALC) iyo inogadzira imwe enzyme (galactocerebrosidase). Kusavapo kweiyi enzyme inokonzerwa nekuchinja kunotungamirira kukuunganidza kwezvigadzirwa (galactolipids) iyo ichaparadza oligodendrocytes - masero ari pamavambo ekuumbwa kwemyelin. Kurasikirwa kunotevera kwemyelin (chiitiko chinonzi demyelination) chinodzivirira masero etsinga kubva pakutumira nekugamuchira mameseji.

Ndiani anonyanya kubatwa?

Iko kushanduka kwemajini kwakabatana nechirwere cheKrabbe kunongokonzera chirwere kana murwere aine makopi akachinja ejini akagarwa nhaka kubva kuvabereki. Chirwere chinokonzerwa nemakopi maviri akashandurwa chinonzi autosomal recessive disorder.

Kana mubereki wega wega aine kopi yakashandurwa yejini, njodzi kumwana ingave inotevera:

• A 25% njodzi yekugara nhaka makopi maviri akashandurwa, izvo zvaizotungamirira kuchirwere.
• A 50% njodzi yekugara nhaka kubva kune imwechete mutated kopi. Mwana anobva atakura mutation asi haakuri chirwere.
• A 25% njodzi yekugara nhaka makopi maviri akajairwa ejini.

Kuongororwa kwechirwere cheKrabbe

Mune zvimwe zviitiko, chirwere cheKrabbe chinoonekwa muvana vachangozvarwa vaine ongororo yekuongorora zviratidzo zvisati zvaoneka. Nekudaro, muzviitiko zvakawanda, kutanga kwezviratidzo kunotanga kutanga kusati kwaedzwa, nekuzoongorora kunotevera kwezvinokonzera.

Rabhoritari bvunzo

Sampu yeropa uye biopsy (sample diki yeganda) inotumirwa kurabhoritari kuongorora huwandu hwekuita kweGALC enzyme. Chiyero chakaderera kwazvo kana zero chiitiko chezinga chinogona kuratidza kuvepo kwechirwere cheKrabbe.

Kunyange zvazvo migumisiro yacho ichibatsira chiremba kuti aongorore, haipi humbowo hwekuti chirwere chacho chinokurumidza kukura sei. Semuenzaniso, yakaderera kwazvo GALC basa hazvireve kuti chirwere chinokura nekukurumidza.

Electroencephalogram (EEG)

EEG isina kujairika inogona kusimbisa fungidziro yechirwere.

Kufungidzira miedzo

Chiremba wako anogona kuraira imwe kana yakawanda yekufungidzira bvunzo inogona kuona kurasikirwa kwemyelin munzvimbo dzakakanganisika dzehuropi. Miedzo iyi inosanganisira:

• Magnetic Resonance Imaging, tekinoroji inoshandisa masaisai eredhiyo uye simba remagineti kugadzira mifananidzo ye3-D yakadzama.
• Computerized tomography, inyanzvi yeradiology tekinoroji inogadzira mifananidzo ine mativi maviri.
• Chidzidzo che nerve conduction, iyo inoyera kukurumidza tsinga dzinogona kutumira meseji. Kana iyo myelin inotenderedza tsinga ikakanganiswa, tsinga conduction inononoka.

Genetic bvunzo

Ongororo yemajini inogona kuitwa nesample yeropa kuratidza kuongororwa.

Genetic test yekuongorora njodzi yekuva nemwana ane chirwere cheKrabbe inogona kutariswa mune mamwe mamiriro:

• Kana vabereki vachizivikanwa vatakuri, vanogona kuraira prenatal genetic test kuti vaone kana mwana wavo angangoita chirwere.
• Kunyangwe mumwe kana vabereki vese vangangove vatakuri veGALC gene mutation nekuda kwenhoroondo yemhuri inozivikanwa yechirwere cheKrabbe.
• Kana mwana akaonekwa kuti ane chirwere cheKrabbe, mhuri inogona kufunga nezvekuongorora majini kuti vaone vamwe vana vavo vanogona kuita chirwere gare gare muhupenyu.
• Vanozivikanwa vatakuri, vanoshandisa in vitro fertilization, vanogona kukumbira kuongororwa majini vasati vadyarwa.

Kuongororwa kuchangozvarwa

Mune dzimwe nyika, kuyedzwa kwechirwere cheKrabbe chikamu cheyero yakatarwa yekuongororwa kwevachangozvarwa. Yekutanga yekuongorora bvunzo inoyera chiitiko cheGALC enzyme. Kana basa re enzyme rakaderera, kutevera-up GALC miedzo uye genetic tests inoitwa. Kushandiswa kwekuongorora bvunzo muvana vachangozvarwa kutsva.

Evhangeri uye zvinetso zvinogoneka

Zvinetso zvinoverengeka - zvinosanganisira kutapukira uye kunetseka kufema - zvinogona kukura muvana vane chirwere cheKrabbe chepamusoro. Mumatanho ekupedzisira echirwere, vana vanoremara, vanogara pamibhedha yavo, uye vanopedzisira vaita zvinomera.

Vana vazhinji vanova nechirwere cheKrabbe muhuduku vanofa vasati vasvika makore maviri, kazhinji kubva mukutadza kufema kana matambudziko kubva pakurasikirwa zvachose kwekufamba uye kuderera kwakaratidza kuderera kwetsandanyama. Vana vanova nechirwere ichi gare gare muhuduku vanogona kuva nehupenyu hurefu, kazhinji pakati pemakore maviri nemanomwe mushure mekuongororwa.

Zviratidzo zvekutanga zvechirwere cheKrabbe muhuduku hunogona kufanana nezvirwere zvakati wandei kana nyaya dzekukura. Naizvozvo, zvakakosha kuwana nekukurumidza uye kwakaringana kuongororwa kana mwana wako aine chero zviratidzo kana zviratidzo zvechirwere.

Zviratidzo nezviratidzo zvinowanzobatanidzwa nevana vakwegura nevakuru hazvisi zvakananga kuchirwere cheKrabbe uye zvinoda kuongororwa panguva.

Mibvunzo inobvunzwa nachiremba nezvezviratidzo ndeiyi:

• Ndezvipi zviratidzo kana zviratidzo zvawaona? Vakatanga rini?
• Izvi zviratidzo kana zviratidzo zvakachinja nekufamba kwenguva here?
• Wakamboona shanduko ipi neipi mukutarisisa kwemwana wako?
• Mwana wako ane fivha here?
• Wakamboona kushatirwa kusina kujairika kana kunyanyisa here?
• Wakaona kuchinja kupi nokupi mukudya here?

Mibvunzo, kunyanya yevana vakura kana vakuru, inogona kuva:

• Mwana wako akawana chero shanduko mukuita kwake mudzidzo?
• Wakamboomerwa nemabasa akajairwa here kana mabasa ane chekuita nebasa?
• Mwana wako ari kurapwa kune rimwe dambudziko rekurapa here?
• Mwana wako achangotanga mushonga mutsva here?

Kazhinji, zviratidzo uye zviratidzo zvechirwere cheKrabbe zvinoonekwa mumwedzi mishoma yekutanga mushure mekuberekwa. Vanotanga zvishoma nezvishoma uye zvishoma nezvishoma zvinowedzera kuipa.

Zviratidzo nezviratidzo zvinowanzoonekwa pakutanga kwechirwere (pakati pemwedzi miviri nemitanhatu yehupenyu) ndezvizvi:

• Kudyisa matambudziko
• Kuchemerera kusina tsananguro
• Kushatirwa kwakanyanya
• Fivha pasina zviratidzo zveutachiona
• Kudzikira kurinda
• Kunonoka mumatanho ebudiriro
• Tsvina dzemuviri
• Kutadza kutonga musoro
• Kugara uchirutsa

Sezvo chirwere ichi chichienderera mberi, zviratidzo uye zviratidzo zvinowedzera zvakanyanya. Vanogona kusanganisira:

• Abnormal development
• Kurasika kwekunzwa uye kuona
• Mimhasuru yakaoma uye yakasimba
• Kurasikirwa zvishoma nezvishoma kwekukwanisa kumedza uye kufema

Kana chirwere cheKrabbe chichikura gare gare muhuduku (makore 1 kusvika ku8) kana mukukura (mushure memakore masere), zviratidzo nezviratidzo zvinogona kusiyana zvakanyanya uye zvinosanganisira:

• Kufambira mberi kwekurasikirwa kwekuona pamwe kana pasina peripheral neuropathy
• Kutadza kufamba (ataxia)
• Paresthesia nekunzwa kupisa
• Kurasikirwa kwemaoko dexterity
• Kupera simba kwetsandanyama

Sezvo mutemo wakazara, kutanga kwezera rekutanga kwechirwere cheKrabbe, kukurumidza kwechirwere ichi.

Vamwe vanhu vanoonekwa vachiri kuyaruka kana kuti vakura vanogona kunge vaine zviratidzo zvishoma zvakanyanya, uye kushaya simba kwetsandanyama chiri chinhu chekutanga. Vanogona kunge vasina chero shanduko mukugona kwavo kwekuziva.

Zvakakosha kuita kuti mwana atevere kuitira kutarisa kukura kwake, kunyanya:

• kukura kwake
• Mutsara wake
• Simba remhasuru dzake
• Kudyidzana kwayo
• Mamiriro ake
• Kugona kwavo kunzwa (kuona, kunzwa uye kubata)
• Kudya kwake

Kune vacheche vakatotanga zviratidzo zvechirwere cheKrabbe, ikozvino hapana kurapwa kunogona kuchinja nzira yechirwere. Naizvozvo kurapwa kwakanangana nekugadzirisa zviratidzo uye kupa rubatsiro runotsigira.

Kupindira kunosanganisira:

• anticonvulsant mishonga yekugadzirisa kubatwa;
• mishonga yekubvisa tsandanyama spasticity uye kutsamwa;
• physiotherapy kuderedza kuderera kwetaundi yemasuru;
• kupihwa kwezvinovaka muviri, semuenzaniso nekushandisa gastric chubhu kuendesa mvura uye zvinovaka muviri zvakananga mudumbu.

Kupindira kwevana vakura kana vanhu vakuru vane hunyoro mafomu echirwere kunogona kusanganisira:

• physiotherapy kuderedza kuderera kwetaundi yemasuru;
• occupational therapy kuti uwane rusununguko rwakawanda sezvinobvira nemabasa ezuva nezuva;
• kutapurirana kwehematopoietic stem masero anogona kuchengetedza myelin nekugadzira GALC enzymes. Ivo vanobva mumbilical cord blood, donor bone marrow kana kutenderera ropa stem masero.

Kurapa uku kunogona kuvandudza mhedzisiro mucheche kana kurapwa kwatangwa zviratidzo zvisati zvatanga, ndiko kuti, kana kuongororwa kunoitwa mushure mekuongororwa kwekrini richangozvarwa. Vacheche vasati vane zviratidzo uye vanogamuchira stem cell transplant vane zvishoma nezvishoma kufambira mberi kwechirwere. Nekudaro, ivo vachiri nedambudziko rakakura pakutaura, kufamba uye humwe hunyanzvi hwemotokari.

Vana vakura uye vanhu vakuru vane zviratidzo zvinyoro vanogonawo kubatsirwa kubva mukurapwa uku.