I-congenital hegakaryocytic thrombocytopenia (i-CAMT) ingenye yeqembu elikhudlwana lama-syndromes okuhlukunyezwa kwamathambo azuzwe njengefa, njenge-Fanconi anemia noma i-dyskeratosis congenital. Nakuba leli gama liwumlomo, liqondwa kangcono ngokubheka igama ngalinye egameni layo. I-Congenital isho ukuthi umuntu wazalwa enesimo. I-Thrombocytopenia yigama lezokwelapha lokubalwa kweplatelet ephansi.
Amegakaryocytic ichaza isizathu se-thrombocytopenia. Ama-platelet akhiwa emnothweni wethambo ngamagakaryocytes. I-thrombocytopenia ye-Amegakaryocytic itholakala ukuthi isibalo esiphansi se-plaletlet sisezingeni eliphansi kokungabi namagakaryocytes.
Izimpawu Zenhliziyo Ye-Amegakaryocytic Thrombocytopenia
Iningi labantu abane-CAMT litholakala ebuntwaneni, ngokuvamile nje ngemva kokuzalwa. Ngokufanayo nezinye izimo nge-thrombocytopenia, ukuphuma kwegazi ngokuvamile kuyimpawu zokuqala. Ukweqa ngokweqile kubonakala esikhumbeni (okuthiwa i-purport), umlomo, impumulo, kanye namathambo. Cishe zonke izingane ezixilongwa nge-CAMT zinezinto ezithile ezitholwe isikhumba. Okubaluleke ngokuphathelene nokuphuma kwegazi kuyingozi yokungasebenzi (ebuchosheni), kodwa ngokubonga lokho akukwenzeka njalo.
Iningi lokulahlekelwa komnumzane wefa lomzimba njenge-Fanconi anemia noma i-dyskeratosis congenita inezinkinga zokuzalwa ezibonakalayo. Izinsana ezine-CAMT azinawo amaphutha okuzalwa ahlobene nawo.
Lokhu kungasiza ukuhlukanisa i-CAMT kwesinye isimo esinikeza ekuzalweni nge-thrombocytopenia okuthiwa i-thrombocytopenia engekho i-radius syndrome (TARS). Lesi simo sinesifo esibucayi se-thrombocytopenia kodwa siboniswe ngeziphambano ezimfushane.
Ukuxilongwa
Ukuqeda inani legazi (i-CBC) kuhlolwa okujwayelekile kwegazi okudonsa lapho umuntu ephuma ngenxa yezizathu ezingaziwa.
Ku-CAMT, i-CBC yembula i-thrombocytopenia enamandla nge-platelet count ngokuvamile ngaphansi kwamangqamuzana angu-80,000 nge-microliter ngayinye ngaphandle kwe-anemia (inani elibomvu seli-cell red) noma izinguquko ekubaleni kwegazi elimhlophe. Kunezizathu eziningi zokuthi usana olusanda kuzalwa lube ne-thrombocytopenia ngakho-ke ukuphanga kuzoba phakathi kokulawula izifo eziningi ezifana ne-rubella, i-cytomegalovirus (CMV), kanye ne-sepsis (ukutheleleka okukhulu kwebhaktheriya). I-thrombopoietin (ebizwa nangokuthi i-megakaryocytic ukukhula nokuthuthukiswa kwesici) yiprotheni ekhuthaza ukukhiqizwa kweplatelet. Izinga le-thrombopoietin kubantu abane-CAMT liphakanyisiwe.
Ngemuva kwezimbangela ezivame kakhulu ze-thrombocytopenia zikhishwa ngaphandle, kungenzeka ukuthi umthambo we-marrow biopsy kudingeka uhlole ukukhiqizwa kweplatelet. Umnkantsha wezinyosi ku-CAMT uzoveza cishe ukungabi khona kwe-megakaryocytes ngokuphelele, iseli legazi elikhiqiza amaplatelet. Ukuhlanganiswa kwamanani aseplatelet aphansi kanye nokungabikho kwe-megakaryocytes ukuxilongwa kwe-CAMT. I-CAMT ibangelwa ukushintshashintsha kwegciwane le-MPL (thrombopoietin receptor). Izuzwe ngefosimali ngokweqile kwezimoto zokuthi abazali bobabili kufanele baphathe umkhuba womntanakho ukuthuthukisa isimo. Uma bobabili abazali bengabathwali, bane-1 ku-4 amathuba okuba nengane ene-CAMT.
Uma ngabe ufisa, ukuhlolwa kofuzo kungathunyelwa ukufuna ukuguqulwa kwegciwane lesiphakamiso se-MPL, kepha lokhu kuhlolwa akudingeki ukuba kutholakale ukuhlolwa.
Ukwelapha
Ukwelashwa kokuqala kuqondiswa ekumisekeni noma ekuvimbeleni ukuphuma ngegazi ngeplatelet transfusions. Ukumpontshelwa kweplatelet kungaphumelela kakhulu, kodwa izingozi nezinzuzo kufanele zihlolwe ngokucophelela njengoba abanye abantu abathola ukuthefelwa kweplatelet amaningi bangakha ama-antibodies aseplatelet ekwehliseni ukusebenza kwalo muthi. Nakuba ezinye izinhlobo ze-thrombocytopenia zingelashwa nge-thrombopoietin, ngoba abantu abane-CAMT abanalo amagakaryocytes okwanele ukwenza amapleletti ngokwanele, abaphenduli kulolukwelapha.
Yize kuphela amapleletthi athinteka ekuqaleni, ngokuhamba kwesikhathi isikhathi se-anemia ne-leukopenia (isibalo esincane segazi eliphansi) singakhula. Lokhu ukwehlisa zonke izinhlobo zezintathu zegazi kubizwa nge-pancytopenia futhi kungabangela ukuthuthukiswa kwe- anemia enamandla kakhulu . Lokhu kuvame ukuvela phakathi kweminyaka engu-3 kuya kwengu-4, kepha kungenzeka ukuthi usekhulile kwezinye iziguli.
Ukwelashwa okukodwa okwelashwa okwamanje kuyisitembu se-stem cell (noma umthambo we-bone). Le nqubo isebenzisa ama-stem cells avela kubanikeli abafanelene (ngokuvamile i-sibling uma ikhona) ukuqhubeka nokukhiqizwa kwamangqamuzana egazi emnothweni wethambo.
Izwi elivela
Ukuthola umntwana wakho unesifo esingelapheki ngemuva nje kokuzalwa kungabhubhisa. Ngenhlanhla, ukumpontshelwa kweplatelet kungasetshenziselwa ukuvimbela iziqephu zegazi kanye nokufakelwa kwe-stem cell kungaba ukwelapha. Khuluma nodokotela wengane yakho mayelana nokukhathazeka kwakho futhi uqiniseke ukuthi uyaqonda zonke izinketho zokwelashwa.
> Imithombo:
> Olson TS. I-anemia ye-aplastic inherithi ebantwaneni nasebancane. Ku: UpToDate, Post, TW (Ed), UpToDate, Waltham, MA.
> Yebo DL. Izimbangela ze-thrombocytopenia ezinganeni. Ku: UpToDate, Post, TW (Ed), UpToDate, Waltham, MA.