Matenda a Krabbe

Matenda a Krabbe ndimatenda achilendo amanjenje. Ndi mtundu wa matenda amubongo otchedwa leukodystrophy.

Cholakwika mu Mapulogalamu onse pa intaneti jini imayambitsa matenda a Krabbe. Anthu omwe ali ndi vuto la jini limeneli samapanga mankhwala okwanira otchedwa galactocerebroside beta-galactosidase (galactosylceramidase).

Thupi limafunikira enzyme iyi kuti ipange myelin. Myelin akuzinga ndi kuteteza ulusi wamitsempha. Popanda enzyme iyi, myelin imawonongeka, ma cell aubongo amafa, ndipo mitsempha muubongo ndi ziwalo zina za thupi sizigwira ntchito bwino.

Matenda a Krabbe amatha kukula mosiyanasiyana:

• Matenda oyambilira a Krabbe amapezeka miyezi yoyambirira ya moyo. Ana ambiri omwe ali ndi matendawa amamwalira asanakwanitse zaka ziwiri.
• Matenda obwera mochedwa a Krabbe amayamba adakali aang'ono kapena achichepere.

Matenda a Krabbe adachokera, zomwe zikutanthauza kuti amapitilira m'mabanja. Ngati makolo onse atenga mtundu wosagwira ntchito wokhudzana ndi vutoli, mwana wawo aliyense ali ndi mwayi 25% (1 mwa 4) wokhala ndi matendawa. Ndi matenda osokoneza bongo.

Matendawa ndi osowa kwambiri. Ambiri amapezeka pakati pa anthu ochokera ku Scandinavia.

Zizindikiro za matenda oyambirira a Krabbe ndi awa:

• Kusintha kamvekedwe ka minofu kuchoka pa floppy kukhala kolimba
• Kumva kutayika komwe kumabweretsa ugonthi
• Kulephera kukula bwino
• Kudyetsa zovuta
• Kukwiya komanso kuzindikira kukweza mawu
• Kugwidwa kwakukulu (kumatha kuyamba adakali aang'ono kwambiri)
• Malungo osadziwika
• Kutaya masomphenya komwe kumabweretsa khungu
• Kusanza

Ndikumachedwa kuchepa kwa matenda a Krabbe, mavuto amaso amatha kuwonekera koyamba, kutsatiridwa ndi zovuta zoyenda ndi minofu yolimba. Zizindikiro zimasiyanasiyana malinga ndi munthu. Zizindikiro zina zimathanso kuchitika.

Wothandizira zaumoyo adzayesa thupi ndikufunsa za zizindikiro.

Mayeso omwe angachitike ndi awa:

• Kuyesa magazi kuti muyang'ane milingo ya galactosylceramidase m'maselo oyera
• Mapuloteni a CSF - amayesa kuchuluka kwa mapuloteni mu cerebrospinal fluid (CSF)
• Kuyesedwa kwa chibadwa cha vuto la jini la GALC
• MRI ya mutu
• Kuthamanga kwamitsempha

Palibe mankhwala enieni a matenda a Krabbe.

Anthu ena adalandidwa m'mafupa kumayambiriro kwa matendawa, koma chithandizochi chimakhala ndi zoopsa.

Izi zitha kukupatsirani zambiri za matenda a Krabbe:

• National Organisation for Rare Disways - rarediseases.org/rare-diseases/leukodystrophy-krabbes
• Buku Lofotokozera la NIH Genetics - ghr.nlm.nih.gov/condition/krabbe-disease
• Mgwirizano wa United Leukodystrophy - www.ulf.org

Zotsatira zake mwina ndizosauka. Pafupifupi, makanda omwe ali ndi matenda oyamba ku Krabbe amamwalira asanakwanitse zaka 2. Anthu omwe amadwala matendawa pambuyo pake apulumuka mpaka atakula ndi matenda amanjenje.

Matendawa amawononga dongosolo lamanjenje lamkati. Itha kuyambitsa:

• Khungu
• Kugontha
• Mavuto akulu ndi minofu

Matendawa nthawi zambiri amakhala owopsa.

Lumikizanani ndi omwe amakupatsani ngati mwana wanu akukumana ndi matendawa. Pitani kuchipinda chadzidzidzi kuchipatala kapena itanani nambala yanu yadzidzidzi (monga 911) ngati izi zikuchitika:

• Kugwidwa
• Kutaya chidziwitso
• Kukhazikika kwachilendo

Upangiri wamtunduwu umalimbikitsidwa kwa anthu omwe ali ndi mbiri yakubadwa ya matenda a Krabbe omwe akuganiza zokhala ndi ana.

Kuyezetsa magazi kumatha kuchitika kuti muwone ngati muli ndi jini la matenda a Krabbe.

Mayeso a prenatal (amniocentesis kapena chorionic villus sampling) atha kuchitidwa kuyesa mwana yemwe akukula chifukwa cha vutoli.

Globoid selo leukodystrophy; Kulephera kwa Galactosylcerebrosidase; Kulephera kwa Galactosylceramidase

Grabowski GA, Burrow TA, Leslie ND, Prada CE. Matenda osungira Lysosomal. Mu: Orkin SH, Fisher DE, Ginsburg D, Yang'anani AT, Lux SE, Nathan DG, eds. Nathan ndi Oski a Hematology ndi Oncology of Infancy and Childhood. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015: chap 25.

Abusa GM, Wang RY. Matenda osungira Lysosomal. Mu: Swaiman KF, Ashwal S, Ferriero DM, et al, olemba. Swaiman's Pediatric Neurology: Mfundo ndi Zochita. Lachisanu ndi chimodzi. Philadelphia, PA: Elsevier; 2017: mutu 41.