Congenital amegakaryocytic thrombocytopenia (CAMT) ndi imodzi mwa gulu lalikulu la mafupa osalidwa ndi mafupa a mafupa, monga Fanconi anemia kapena dyskeratosis congenital. Ngakhale kuti mawuwa ndi ovomerezeka, zimamveka bwino poyang'ana pa liwu lirilonse mu dzina lake. Congenital amatanthauza kuti munthuyo anabadwa ali ndi vutoli. Thrombocytopenia ndi nthawi yachipatala ya chiwerengero chochepa cha platelet.
Amegakaryocytic ikufotokoza chifukwa cha thrombocytopenia. Mapaleti amapangidwa m'mafupa ndi megakaryocytes. Amegakaryocytic thrombocytopenia kumatanthauza kuti chiwerengero chochepa cha platelet ndi chachiwiri kwa kusowa kwa megakaryocytes.
Zizindikiro za Congenital Amegakaryocytic Thrombocytopenia
Anthu ambiri omwe ali ndi CAMT amadziwika ali akhanda, nthawi zambiri atangobereka kumene. Mofanana ndi zinthu zina ndi thrombocytopenia, kutuluka magazi nthawi zambiri kumakhala zizindikiro zoyamba. Kutsekemera kumachitika khungu (lotchedwa purport), kamwa, mphuno, ndi m'mimba. Pafupifupi ana onse omwe anapezeka ndi CAMT anali ndi khungu lina. Ambiri okhudzana ndi kutaya mwazi ndi osakanikirana (ubongo) m'mimba, koma zikondwerero zomwe sizichitika kawirikawiri.
Ambiri omwe amachokera ku mafupa omwe amatha kukhala nawo monga Fanconi magazi kapena dyskeratosis congenita ali ndi zolepheretsa kubadwa. Ana omwe ali ndi CAMT alibe zolepheretsa kubadwa zomwe zimakhudzana nazo.
Izi zingathandize kusiyanitsa CAMT ndi matenda ena omwe amapereka pobereka ndi thrombocytopenia yotchedwa thrombocytopenia absent radius syndrome (TARS). Matendawa ali ndi thrombocytopenia kwambiri koma amadziwika ndi zofupikitsa.
Kudziwa
Kuwerengera kwa magazi nthawi zonse (CBC) ndi kafukufuku wamagazi omwe amawoneka ngati wina akumwa magazi chifukwa cha zifukwa zosadziwika.
Mu CAMT, CBC imaonetsa thrombocytopenia yaikulu ndi chiwerengero cha platelet kawirikawiri osachepera 80,000 maselo pa microliter popanda kuperewera kwa magazi m'thupi (kuchepa kwa maselo ofiira magazi) kapena kusintha kwa maselo oyera a magazi. Pali zifukwa zambiri zoti khanda likhale ndi thrombocytopenia kotero kuti kubwezera kudzaphatikizapo kulamulira matenda osiyanasiyana monga rubella, cytomegalovirus (CMV), ndi sepsis (matenda oopsa a bakiteriya). Thrombopoietin (yomwe imatchedwanso megakaryocytic kukula ndi chitukuko) ndi mapuloteni omwe amachititsa kuti mapuloteni apangidwe. Magulu a Thrombopoietin kwa anthu omwe ali ndi CAMT ali pamwamba.
Pambuyo pazifukwa zambiri zomwe zimayambitsa thrombocytopenia zimachokera kunja, zimakhala zovuta kuti mafupa apangidwe. Mfupa umawoneka mu CAMT udzawonetsa pafupifupi kuti palibe ma gakaryocytes, magazi omwe amapanga mapulogalamu. Kuphatikizidwa kochepa kwambiri kwa platelet kuwerengeka ndi kusapezeka kwa megakaryocytes ndiko kuganizira kwa CAMT. CAMT imayambitsidwa ndi kusintha kwa MPL gene (thrombopoietin receptor). Ndilo choloĊµa choloĊµera chodziwika bwino kuti makolo onse azitsatira khalidwe la mwana wawo kuti akhale ndi vutoli. Ngati makolo onse ali ndi zonyamulira, ali ndi mwayi umodzi mwa kukhala ndi mwana ndi CAMT.
Ngati mukufuna, kuyezetsa mafupa akhoza kutumizidwa kukayang'ana kusintha kwa jini la MPL, koma kuyesa sikukufunika kuti mudziwe.
Chithandizo
Chithandizo choyamba chimayesedwa poletsa kapena kupewa kutaya mwazi ndi kuika magazi. Kuika magazi m'magazi kungakhale kothandiza kwambiri, koma zoopsa ndi zopindulitsa ziyenera kuyesedwa bwino ngati anthu ena omwe amalandira magazi ambiri angapangitse tizilombo toyambitsa mapulogalamu kuti achepetse chithandizochi. Ngakhale kuti mitundu ina ya thrombocytopenia imatha kuchiritsidwa ndi thrombopoietin, chifukwa anthu omwe ali ndi CAMT alibe amphakacyte okwanira kupanga mapiritsi mokwanira, samayankha mankhwalawa.
Ngakhale kuti mapuloteni okha amayamba kuthandizidwa, m'kupita kwanthawi magazi amadzimadzi ndi leukopenia (chiwerengero chochepa cha maselo oyera) akhoza kukula. Kutsika kwa mitundu itatu yonse ya maselo a magazi kumatchedwa pancytopenia ndipo kungayambitse chitukuko cha kuchepa kwa magazi m'thupi . Izi zimachitika pakati pa zaka 3 ndi 4, koma zimachitika akalamba odwala ena.
Njira yokhayo yothandizira pakalipano ndiyo yopaleshoni yachitsulo (kapena mafupa). Njirayi imagwiritsa ntchito maselo osungunuka kuchokera kwa opereka omwe akugwirizana nawo (kawirikawiri mbale wawo ngati alipo) kuti apitirize kupanga maselo a magazi m'magazi.
Mawu Ochokera
Kupeza mwana wanu ali ndi matenda aakulu pambuyo pa kubadwa kungakhale kovuta. Mwamwayi, kuika magazi m'magazi kungagwiritsidwe ntchito kuti magazi asatuluke m'magazi komanso kusinthitsa maselo amatha kukhala ochizira. Lankhulani ndi dokotala wa mwana wanu za nkhawa zanu ndipo onetsetsani kuti mumvetsetsa njira zonse zomwe mungasankhire.
> Zotsatira:
> Olson TS. Anabadwa ndi kuchepa kwa magazi m'thupi mwa ana ndi achinyamata. Mu: UpToDate, Post, TW (Ed), UpToDate, Waltham, MA.
> Inde DL. Zifukwa za thrombocytopenia kwa ana. Mu: UpToDate, Post, TW (Ed), UpToDate, Waltham, MA.