Matenda a Krabbe ndi omwe amachititsa kuti thupi lisokonezeke
Matenda a Krabbe, omwe amadziwikanso kuti globoid cell leukodystrophy, ndi matenda osokoneza bongo omwe amachititsa mchitidwe wamanjenje. Anthu omwe ali ndi matenda a Krabbe ali ndi kusintha kwa geni yawo. Chifukwa cha kusintha kwamasinthasinthawa, sakhala ndi mavitamini a galactosylceramidase. Kulephera kumeneku kumapangitsa kuti pang'onopang'ono kutaya maselo oteteza thupi, otchedwa myelin .
Popanda chitetezo ichi, mitsempha yathu siingakhoze kugwira ntchito bwino, kuwononga ubongo wathu ndi dongosolo lathu lamanjenje.
Matenda a Krabbe amakhudza anthu pafupifupi 1,000 pa 100,000 padziko lonse lapansi, ndipo pali zochitika zazikulu zomwe zimachitika m'madera ena mu Israeli.
Zizindikiro za matenda a Krabbe
Pali magawo anai a matenda a Krabbe, aliyense ali ndi zizindikiro zawo komanso zizindikiro zake.
| Mtundu 1 | Mtsikana | Zimayambira pakati pa miyezi itatu ndi itatu yokha |
| Mtundu 2 | Posakhalitsa Wamphongo | Iyamba pakati pa miyezi 6 ndi 3 |
| Mtundu 3 | Achinyamata | Amayambira pakati pa zaka zitatu ndi zisanu ndi zitatu |
| Mtundu 4 | Kuyamba kwa akuluakulu | Iyamba nthawi iliyonse patatha zaka 8 |
Popeza matenda a Krabbe amakhudza maselo a mitsempha, zizindikiro zambiri zomwe zimayambitsa matendawa ndi zamaganizo. Mtundu 1, mawonekedwe a infantile, amawerengera anthu 85 mpaka 90 peresenti ya milandu. Mtundu 1 ukupita kupyolera muzigawo zitatu:
- Gawo 1: Ayambira pafupi miyezi itatu kapena sikisi atabadwa. Ana okhudzidwa amasiya kukula ndi kukwiya. Amakhala ndi minofu yapamwamba (minofu ndi yolimba kapena yovuta) komanso kudyetsa vuto.
- Gawo 2: Kuwonongeka kwa mitsempha yowonjezereka kwambiri, kumayambitsa kuwonongeka kwa minofu, kukula kwa minofu, kugwedeza kumbuyo, ndi kuwonongeka kwa masomphenya. Kugonjetsa kungayambe.
- Gawo 3: Mwana wakhanda amakhala wakhungu, wogontha, wosadziŵa malo ake, ndi wokhazikika. Moyo wa ana omwe ali ndi mtundu wa 1 uli pafupi miyezi 13.
Mitundu ina ya matenda a Krabbe imayamba pambuyo pa kukula kwabwino. Mitundu iyi imapitanso pang'onopang'ono kusiyana ndi mtundu wa 1. Ana ambiri sakhala ndi moyo zaka zoposa ziwiri pambuyo pa mtundu wa 2. Chiyembekezo cha moyo kwa Mitundu 3 ndi 4 ikusiyana, ndipo zizindikiro sizingakhale zovuta.
Momwe Matenda a Krabbe Amadziwira
Ngati zizindikiro za mwana wanu zikutanthauza matenda a Krabbe, kuyezetsa magazi kungatheke kuti awone ngati ali ndi vuto la galactosylceramidase, kutsimikizira kuti matenda a Krabbe akuwunika. Kuwombera kosalala kumatha kuchitapo kanthu kuti zisawononge kaperesi yamadzimadzi. Mapuloteni apamwamba kwambiri akhoza kusonyeza matendawa. Kuti mwana abadwe ali ndi chikhalidwe, makolo onse awiri ayenera kunyamula jekeseni ya mutated - yomwe imapezeka pa chromosome 14. Ngati makolo ali ndi jini, mwana wawo wosabadwa akhoza kuyesedwa kwa vuto la galactosylceramidase. Mabungwe ena amapereka kachilombo koyambitsa matenda a Krabbe.
Chithandizo
Palibe mankhwala a Krabbe matenda. Kafukufuku wam'mbuyo awonetsetsa kuti maselo amtundu wa hemopoietic transmlantation ( HSCT ), maselo ofunika omwe amakhala maselo a magazi, monga mankhwala omwe angapangidwe. HSCT imagwira ntchito bwino ngati imaperekedwa kwa odwala omwe sanawonetsere zizindikiro kapena kuti ali ndi chizindikiro chofatsa.Theko imapindula kwambiri popatsidwa mwezi woyamba.
HCST ikhoza kupindulitsa iwo omwe ali ndi vuto lochedwa mofulumira kapena matenda opititsa patsogolo pang'onopang'ono ndi ana omwe ali ndi matenda ochepa kwambiri ngati ataperekedwa msanga mokwanira. Ngakhale kuti HCST sichidzachiza matendawa, ikhoza kupereka moyo wabwino - kuchepetsa kupititsa patsogolo kwa matenda ndi kukulitsa chiyembekezo cha moyo. Komabe, HCST imakhala ndi zoopsa zake ndipo ili ndi chiwerengero cha anthu 15%.
Kafukufuku wamakono akufufuzira mankhwala okhudzana ndi zizindikiro zotupa, mankhwala othandizira odwala, majeremusi, ndi neural stem cell transplantation. Njira zochiritsira zonsezi ndizoyambira pamayambiriro awo oyambirira ndipo sizinayambe kulandira mayesero a chipatala.
Chidziwitso cha nkhaniyi chatengedwa kuchokera:
Tegay, DH (2014). Matenda a Krabbe. eMedicine.