Krabbe chirwere

Krabbe chirwere chiri chisingawanzoitika geni kusagadzikana kweiyo nervous system. Icho chirwere chehuropi chinonzi leukodystrophy.

Kuremara mu GALC geni inokonzera chirwere cheKrabbe. Vanhu vane hurema uhu havaite zvakakwana chinhu (enzyme) inonzi galactocerebroside beta-galactosidase (galactosylceramidase).

Muviri unoda enzyme iyi kugadzira myelin. Myelin inotenderedza uye inodzivirira tsinga dzemagetsi. Pasina iyi enzyme, myelin inoputsika, masero europi anofa, uye tsinga dziri muuropi nedzimwe nzvimbo dzemuviri hadzishande nemazvo.

Krabbe chirwere chinogona kukura pamazera akasiyana siyana:

• Yekutanga-kutanga Krabbe chirwere chinoonekwa mumwedzi yekutanga yehupenyu. Vazhinji vana vane chimiro chechirwere vanofa vasati vasvitsa makore maviri.
• Kunonoka-kutanga Krabbe chirwere chinotanga mukunonoka kwehucheche kana kutanga kwekuyaruka.

Krabbe chirwere inogarwa nhaka, zvinoreva kuti inopfuudzwa kuburikidza nemhuri. Kana vese vabereki vakatakura kopi isingashande yegene inoenderana nemamiriro aya, mumwe nemumwe wevana vavo ane 25% (1 mu4) mukana wekuvandudza chirwere. Iyo autosomal yakawandisa kusagadzikana.

Ichi chiitiko hachiwanzoitika. Inowanzoitika pakati pevanhu vanobva kuScandinavia.

Zviratidzo zvekutanga-kutanga chirwere cheKrabbe ndezvi:

• Kuchinja mhasuru toni kubva ku floppy kusvika kuomarara
• Kunzwa kurasikirwa kunotungamira mukusanzwa
• Kutadza kubudirira
• Kudyisa matambudziko
• Kusagadzikana uye kugona kune ruzha ruzha
• Kukundwa kwakanyanya (kunogona kutanga pazera diki kwazvo)
• Mhepo isina kutsanangurwa
• Kuona kurasikirwa kunotungamira kuhupofu
• Kusvipa

Nechirwere chekupedzisira cheKrabbe, matambudziko ekuona anogona kutanga kutanga, achiteverwa nematambudziko ekufamba uye mhasuru dzakasimba. Zviratidzo zvinosiyana pamunhu nemunhu. Zvimwe zviratidzo zvinogona kuitikawo.

Anopa hutano anoita bvunzo dzepanyama uye obvunza nezvezviratidzo.

Miedzo inogona kuitwa inosanganisira:

• Ropa bvunzo kutarisa galactosylceramidase mazinga mumasero eropa
• CSF yakazara mapuroteni - kuyedza huwandu hweprotein mu cerebrospinal fluid (CSF)
• Genetic kuyedza kweiyo GALC geni kuremara
• MRI yemusoro
• Tsinga conduction velocity

Iko hakuna chairo kurapwa kweKrabbe chirwere.

Vamwe vanhu vakaiswa mapfupa ekumisikidza mumatanho ekutanga echirwere, asi kurapwa uku kune njodzi.

Izvi zviwanikwa zvinogona kupa rumwe ruzivo nezve Krabbe chirwere:

• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/leukodystrophy-krabbes
• NIH Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/krabbe-disease
• United Leukodystrophy Foundation - www.ulf.org

Mhedzisiro yacho inogona kunge iri yehurombo. Paavhareji, vacheche vane chirwere chekutanga-kutanga cheKrabbe vanofa vasati vasvika makore 2. Vanhu vanokudziridza hosha pazera rapfuura vapona mukukura vane chirwere chetsinga.

Ichi chirwere chinokuvadza chepakati tsinga system. Zvinogona kukonzera:

• Bofu
• Matsi
• Zvinetso zvakakomba nemhasuru toni

Chirwere ichi chinowanzoisa upenyu pangozi.

Bata mupi wako kana mwana wako achiva nezviratidzo zvechirwere ichi. Enda kuchipatara chekukurumidzira kana kufonera yako yemuno emergency emergency (se911) kana zvinotevera zviratidzo zvikaitika:

• Kufenda
• Kurasikirwa kwekuziva
• Asina kujairika kumisikidza

Genetic counselling inokurudzirwa kune vanhu vane nhoroondo yemhuri yechirwere cheKrabbe avo vari kufunga kuve nevana.

Kuongororwa kweropa kunogona kuitwa kuti uone kana uchitakura geni rechirwere cheKrabbe.

Prenatal bvunzo (amniocentesis kana chorionic villus sampling) inogona kuitwa kuyedza mwana ari kukura nekuda kweichi chiitiko.

Globoid sero leukodystrophy; Galactosylcerebrosidase kushomeka; Galactosylceramidase kushomeka

Grabowski GA, Burrow TA, Leslie ND, Prada CE. Lysosomal kuchengetedza zvirwere. Mune: Orkin SH, Fisher DE, Ginsburg D, Tarisa AT, Lux SE, Nathan DG, eds. Natani naOski Hematology uye Oncology yehucheche nehucheche. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015: chitsiko 25.

Vafundisi GM, Wang RY. Lysosomal kuchengetedza zvirwere. Mune: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Misimboti uye Maitiro. 6th ed. Philadelphia, PA: Elsevier; 2017: chits. 41.