Congenital amegakaryocytic thrombocytopenia (CAMT) imwe yeboka rakakura renhaka inonzi bone marrow failure syndromes, yakadai seFanconi anemia kana dyskeratosis congenital. Kunyange zvazvo shoko iri rine muromo, rinonyatsonzwisiswa nekutsvaga shoko rimwe nerimwe nezita rayo. Congenital zvinoreva kuti munhu uyu akaberekwa ane chirwere. Thrombocytopenia ndiro izwi rezvokurapa kwepasi replatelet count.
Amegakaryocytic inotsanangura chikonzero che thrombocytopenia. Platelets anogadzirwa mumapfupa emapfupa ne megakaryocytes. Amegakaryocytic thrombocytopenia zvinoreva kuti pasi yakakura platelet inowedzera kune kushaya megakaryocytes.
Zviratidzo zveKubatana Amegakaryocytic Thrombocytopenia
Vanhu vazhinji vane CAMT vanozivikanwa mucheche, kazhinji nguva pfupi mushure mekuberekwa. Kufanana nemamwe mamiriro ezvinhu ne thrombocytopenia, kubuda ropa kunowanzotanga zviratidzo. Kupisa kunowanzoitika mucheche (inonzi purport), muromo, mhino, uye masumbo. Vanenge vose vana vakaonekwa kuti vane CAMT vaiva nedzimwe ruzivo rweganda. Kunyanya kubuda ropa kunokonzera (brain) kuora ropa, asi tichionga kuti hazviitiki nguva dzose.
Vakawanda vanowana nhaka yekusagadzikana kwemarro syndromes kufanana neFanconi anemia kana dyskeratosis congenita vane pachena kuzvarwa kwemawere. Vana vacheche neCAMT havana zviremera zvakaberekwa zvinosangana nazvo.
Izvi zvinogona kubatsira kusiyanisa CAM kubva kune imwe mamiriro ezvinhu anopa pakuberekwa ne thrombocytopenia inonzi thrombocytopenia iri kunze kwemajeri (TARS). Iyi mamiriro ane thrombocytopenia yakaoma asi inoratidzwa nehupfupi.
Kuziva
Kuyera ropa kuwanda (CBC) inowanzoonekwa kuongororwa ropa apo mumwe munhu abuda ropa nekuda kwezvikonzero zvisingazivikanwi.
MuCAMT, CBC inoratidza hutachiona hwakanyanya nehuwandu hweplatelet kazhinji huri pasi pe 80,000 masero ne microliter isina anemia (shoma shoma rekuyera masero) kana kuchinja mumuchena wekuyera ropa. Kune zvikonzero zvakawanda zvechechechecheche inobatwa nechirwere ichi kuitira kuti kubata kunogona kusanganisira kutonga kunze kwezvirwere zvakadai se rubella, cytomegalovirus (CMV), uye sepsis (utachiona hutachiona hutachiona hwakanyanya). Thrombopoietin (inonziwo megakaryocytic kukura uye kukurudzira chinhu) ipuroteni inokurudzira kubudisa platelet. Thrombopoietin mazinga muvanhu vane CAMT yakakwirira.
Mushure mokunge zvikonzero zvinowanzoitika zveprombocytopenia zvinongororwa kunze, mapfupa emafuta anonzi biopsy anogona kudiwa kuti aone kupera kweplatelet. Mushonga wepfupa unoputika muCAMT ucharatidza kusakwana kwekushaikwa kwegagakaryocytes, ropa rega iro rinobudisa maplatelet. Kubatanidzwa kwepasi zvakanyanya pasi platelet kuverengwa uye kusavapo kweegakaryocytes ndiko kuongororwa kweCAMT. CAMT inokonzerwa nekuchinja kwemuPLL gene (thrombopoietin receptor). Iyo yakatora nhaka mumutambo wekutsvaga wezvokudya zvinoreva kuti vabereki vose vanofanira kutakura chimiro chekuti mwana wavo atange mamiriro acho. Kana vabereki vose vari vatakuri, vane 1 mu4 mukana wekuva nemwana ane CAMT.
Kana zvichidikanwa, kuongorora mazita evanhu kunogona kutumirwa kutarisa kuchinja kwemuPL gene, asi kuongororwa hazvidiwi kuita kuti kuongororwa.
Kurapa
Kurapa kwokutanga kunotungamirirwa pakurambidza kana kudzivirira kubuda ropa ne platelet transfusions. Kuwedzerwa kweplatelet kunogona kuva kwakabudirira, asi njodzi uye zvikwereti zvinofanira kuongororwa zvakaringana sevamwe vanhu vanogamuchira multiple platelet transfusions vanogona kukura platelet antibodies kuderedza kushanda kwechirapa ichi. Kunyange zvazvo mamwe maitiro e-thrombocytopenia anokwanisa kurapwa ne-thrombopoietin, nokuti vanhu vane CAMT havana megakaryocytes yakakwana kuti vaite maplatelet zvakakwana, havatauri kurwara uku.
Kunyange zvazvo maplatelet chete anokanganisa pakutanga, pakufamba kwenguva anemia uye leukopenia (pasi shoma rekuyera ropa count) inogona kukura. Uku kuderedza kwemarudzi ose matatu emasero eropa kunonzi pancytopenia uye kunogona kukonzera kukura kweakanyanya aplastic anemia . Izvi zvinowanzoitika pakati pemakore matatu nemakore mana, asi zvinogona kuitika pazera remamwe varwere.
Chirwere chekuporesa bedzi ikozvino stem cell (kana bone marrow) kupemha. Iyi nzira inoshandisa masero emasero kubva kune avo vanowirirana vakafanana (kazhinji munun'una kana aripo) kuti adzokere kushandiswa kwemasero muropa mumapfupa emapfupa.
Shoko Rinobva
Kuwana mwana wako ane chirwere chisingaperi mushure mekuberekwa kunogona kuparadza. Nenzira yakanaka, kuwedzerwa kweplatelet kunogona kushandiswa kudzivirira kubuda ropa zvikamu uye stem cell transplant zvinogona kuva nekurapa. Taura nechiremba wemwana wako nezvekunetseka kwako uye iva nechokwadi chokuti unonzwisisa maitiro ose ekurapa.
> Sources:
> Olson TS. Inherited aplastic anemia muvana nevechiri kuyaruka. Mu: UpToDate, Post, TW (Ed), UpToDate, Waltham, MA.
> Hongu DL. Zvinokonzera thrombocytopenia muvana. Mu: UpToDate, Post, TW (Ed), UpToDate, Waltham, MA.