I-amegakaryocytic thrombocytopenia yokuzalwa

Iyini i-congenital amegakaryocytic thrombocytopenia?

I-Congenital amegakaryocytic thrombocytopenia (CAMT) isifo sofuzo esingajwayelekile esibonakala ngenani eliphansi kakhulu lama-megakaryocyte, uhlobo lwengqamuzana lomnkantsha wamathambo olukhiqiza ama-platelet asiza ngokuvinjelwa nokuvinjelwa ukopha. Umnkantsha uyeka ukukhiqiza ama-platelet ekuqaleni, futhi ungase ugcine usuyeka ukukhiqiza amangqamuzana egazi abomvu namhlophe.

I-CAMT ivame ukutholakala noma yikuphi kusukela ekuzalweni kuya ezinyangeni eziyisishiyagalolunye kodwa ngokuvamile enyangeni yokuqala yokuphila kwengane. Kunezinhlobo ezimbili zalesi sifo:

• Iqembu I-CAMT-i-thrombocytopenia eqinile, eqhubekayo (isibalo se-platelet ephansi) kanye nokuqala kokuqala kwe-pancytopenia (isibalo esiphansi segazi elibomvu nelimhlophe)
• Iqembu II CAMT-ukwanda kwesikhashana kwamaplatelet ekuqaleni kokuphila, kanye nokuthuthukiswa okungenzeka kamuva kwe-pancytopenia.

Incazelo

I-thrombocytopenia yomthethosisekelo ehlukanisiwe ebonakala ngokuncipha okukodwa nokubi kwenani lama-platelet nama-megakaryocyte phakathi neminyaka yokuqala yokuphila ekhula ibe ukwehluleka komnkantsha nge-pancytopenia kamuva ebuntwaneni.

Epidemiology

Ukusabalala kwe-congenital amegakaryocytic thrombocytopenia (CAMT) akwaziwa, ngamacala angaphansi kwe-100 aqoshiwe ezincwadini. Ngaphezu kwalokho, ngenxa yokuxilongwa okuyinkimbinkimbi nokuguquguquka kwalesi sifo, isigameko singabukelwa phansi.

Yiziphi izimpawu ze-CAMT?

Ukulimala nokopha, okungasongela ukuphila, kuyizimpawu ze-congenital amegakaryocytic thrombocytopenia. Lesi simo ngokuvamile sikhonjwa ezinganeni ezinokuqubuka kwesikhumba okwaziwa ngele-'petechiae,' okubonisa ukopha okuncane ngaphansi kwesikhumba, kodwa kungase kube nezindawo ezophayo ezengeziwe. Lesi sifo singadluliselwa ezizukulwaneni ngezizukulwane futhi singatholakala kwamanye amalungu omndeni.

Ukuxilongwa kwe-Congenital amegakaryocytic thrombocytopenia (CAMT) ?

Ukuhlolwa kwegazi okulula kungathola i-thrombocytopenia (isibalo esiphansi seplatelet). Kuzokwenziwa ukuhlolwa komnkantsha ukuze kuhlolwe ama-megakaryocyte (amangqamuzana akhiqiza ama-platelet) kanye namanye amangqamuzana akha igazi. Iziguli ezine-CAMT zinokushintsha kofuzo olubizwa nge-c-MPL gene, ngokusho kwezifundo. Ukuhlolwa kofuzo kungaqinisekisa lesi sifo esingavamile.

Ukwelashwa kwe-Congenital amegakaryocytic thrombocytopenia (CAMT)

Ukumpontshelwa kwe-platelet kusetshenziselwa ukwelapha nokuvimbela ukopha ezigulini ze-CAMT. Ezimweni eziningi, umnkantsha wamathambo noma ukufakelwa kwe-cell stem kuyadingeka ukuze kuzuzwe ukuxolelwa.