I-cowgakaryocytic thrombocytopenia (i-CAMT) ye-congenital yegagyoyotictic (i-CAMT) yenye yeqela elikhulu lokulahlekelwa kwethambo lomnxeba, njenge-Fanconi anemia okanye i-dyskeratosis. Nangona eli gama linomlomo, liqondwa kakuhle ngokujonga igama ngalinye egameni layo. Ukuzalwa komntwana kuthetha ukuba umntu wazalwa eneemeko. I-Thrombocytopenia yimizuzu yonyango kwibala eliphantsi leplatelet.
I-Amegakaryocytic ichaza isizathu sesifo se-thrombocytopenia. Iiplatelet zenziwe ngethambo lomongo ngamagakaryocytes. I-Amegakaryocytic thrombocytopenia ithetha ukuba isibalo seplatelet esiphantsi sisibini ukuya kungabikho kweegakaryocytes.
Iimpawu zoqhawulo lwe-Amegakaryocytic Thrombocytopenia
Uninzi lwabantu abaneCAMT lubonakaliswe kusebuntwaneni, ngokukhawuleza emva kokuzalwa. Kuyafana nezinye iimeko kunye ne-thrombocytopenia, ukuphuma kwegazi kubakho impawu zokuqala. Ukuhlamba ngokuqhelekileyo kubonakala kwesikhumba (esibizwa ngokuba yi-purport), umlomo, impumlo, kunye nesisu somzimba. Phantse bonke abantwana abafumene i-CAMT babenokufunyanwa kwesikhumba. Oku kuninzi malunga nokuphuma kwamanzi ku-intracranial (ingqondo) ukubola, kodwa ngokubulela ukuba akunakwenzeka rhoqo.
Uninzi oluthathe ifa lokulahlekelwa komnxeba we-bone syndromes ezifana ne-Fanconi anemia okanye i-dyskeratosis congenita ineziphene zokuzalwa ezibonakalayo. Iintsana ezine-CAMT zineziphene ezithile zokuzalwa ezidibene nayo.
Oku kunokukunceda ukuhlukanisa i-CAMT kwenye imeko eveza ngexesha lokuzalwa ne-thrombocytopenia ebizwa ngokuthi i-thrombocytopenia engekho i-radius syndrome (TARS). Le meko ine-thrombocytopenia enzima kodwa ibonakaliswe ngethuba elifutshane.
Ukuxilongwa
Ukugqiba inani legazi (i-CBC) luvavanyo oluqhelekileyo lwegazi olubanjwe xa umntu egazini ngenxa yezizathu ezingaziwa.
Kwi-CAMT, i-CBC ibonisa i-thrombocytopenia enamandla kunye ne-platelet count ngokuqhelekileyo ngaphantsi kwama-80,000 amaseli nganye nge-microliter ngaphandle kwe-anemia (inani elibomvu lamaseli egazi) okanye utshintsho kwibala legazi elimhlophe. Kukho izizathu ezininzi zentsana esandula kuzalwa ukuba ibe ne-thrombocytopenia ukwenzela ukuba i-workup iyakubandakanya ukulawula ukusuleleka kwezifo ezininzi ezifana ne-rubella, i-cytomegalovirus (CMV), kunye ne-sepsis (ukutheleleka kakubi kwebhaktheriya). I-Thrombopoietin (ebizwa nangokuthi i-megakaryocytic ukukhula kunye nenkqubela yophuhliso) yiprotheni ekhuthaza ukuveliswa kweplatelet. Izinga leThrombopoietin kubantu abane-CAMT liphakanyisiwe.
Emva kwezinto eziqhelekileyo ezibangela i-thrombocytopenia zilawulwa ngaphandle, i- bone marrow biopsy ingafuneka ukuba ihlolwe ukuveliswa kweplatelet. Umongo we-bone we-CAMT uza kubonisa ubuninzi bokungabikho kweegakaryocytes, iseli legazi elivelisa iiplatelet. Ukuhlanganiswa kwamanani aseplatelet aphantsi kwaye ukungabikho kweegakaryocytes kukuxilongwa kweCAMT. I-CAMT ibangelwa iinguqu kwi-MPL gene (i-thrombopoietin receptor). Kulifa kwi-autosomal fancy fashion that means both parents have to bear the trait for their child to develop the condition. Ukuba ngaba bobabini abazali bayithwala, bane-1 kwithuba eli-4 lokuba nomntwana nge-CAMT.
Ukuba ufuna, ukuhlolwa kofuzo kungathunyelwa ukukhangela utshintsho kwijethi ye-MPL, kodwa olu vavanyo alunyanzelwanga ukuba lugqirha.
Unyango
Ulwaphulo lokuqala lujoliswe ekumisekeni okanye ukuthintela ukuphuma kwegazi kunye nokuphalala kweplatelet. Ukuxilongwa kweplatelet kunokusebenza kakuhle, kodwa ingozi kunye neenzuzo kufuneka zihlolwe ngenyameko njengokuba abanye abantu abafumana ukuxilongwa kweplatelet ezininzi bangavelisa amanqwanqwa e-platelet antibodies ekunciphiseni ukusebenza kolu unyango. Nangona ezinye iintlobo ze-thrombocytopenia zingaphathwa nge-thrombopoietin, kuba abantu abane-CAMT abanalo i-megakaryocytes ngokwaneleyo ukwenza iiplatelet ngokwaneleyo, abaphenduli kule nyango.
Nangona iiplatelet kuphela zichaphazelekayo ekuqaleni, ixesha elidlulileyo le-anemia kunye neukopenia (inani elisezantsi legazi legazi) lingakhula. Oku kuncitshiswa kweentlobo zeentlobo zegazi ezintathu kuthiwa yi-pancytopenia kwaye kunokubangela ukuphuhliswa kwe- anemia enkulu . Oku kuvame ukuvela phakathi kweminyaka eyi-3 ukuya kwe-4 ubudala, kodwa inokwenzeka xa ikhulile kwezinye izigulane.
Ulwaphulo oluphela lonyango olusesikweni njengesiqhelo se-stem (okanye umongo we-bone). Le nqubo isebenzisa iiseli ezinama-stem ezivela kubanikeli abafanayo ngokufanayo (ngokuqhelekileyo umntakwabo ukuba ikhona) ukuqhubela phambili ukuveliswa kweeseli zegazi kwi-bone yomnatha.
ILizwi
Ukufumana umntwana wakho unesifo esingapheliyo emva kwexesha lokuzalwa kungaba nzima. Ngethamsanqa, ukuxilongwa kweplatelet kungasetyenziselwa ukuthintela ukuphuma kwamagqabi kunye nokutshintshwa kwe-cell stem kunokunyanga. Xoxa nodokotela wengane yakho malunga nokukhathazeka kwakho kwaye qinisekisa ukuba uyaqonda zonke iindlela zokonyango.
> Imithombo:
> Olson TS. Ifa le-aplastic anemia kubantwana nakwishumi elivisayo. Ku: UkuPhakamisa, Iposi, TW (Ed), UpToDate, Waltham, MA.
> Ewe DL. Iimbangela ze-thrombocytopenia kubantwana. Ku: UkuPhakamisa, Iposi, TW (Ed), UpToDate, Waltham, MA.