I-paroxysmal nocturnal hemoglobinuria (PNH)

I-paroxysmal nocturnal hemoglobinuria yisifo esingajwayelekile lapho amangqamuzana abomvu egazi ehla ngokushesha kunokujwayelekile.

Abantu abanalesi sifo banamaseli egazi ashoda ngofuzo olubizwa nge-PIG-A. Lolu hlobo luvumela into ebizwa nge-glycosyl-phosphatidylinositol (GPI) ukusiza amaprotheni athile anamathele kumaseli.

Ngaphandle kwe-PIG-A, amaprotheni abalulekile awakwazi ukuxhuma ebusweni beseli futhi avikele iseli ezintweni ezisegazini ezibizwa ngokuthi i-complement. Ngenxa yalokho, amangqamuzana abomvu egazi aphuka kusenesikhathi. Amaseli abomvu avuza i-hemoglobin egazini, engadlulela emchameni. Lokhu kungenzeka noma nini, kepha kungenzeka kakhulu ukuba kwenzeke ebusuku noma ekuseni kakhulu.

Lesi sifo singathinta abantu banoma isiphi ubudala. Kungahle kuhlotshaniswe ne-aplastic anemia, i-myelodysplastic syndrome, noma i-acute myelogenous leukemia.

Izici zobungozi, ngaphandle kwe-anemia yangaphambili ye-aplastic, azaziwa.

Izimpawu zingafaka:

• Ubuhlungu besisu
• Ukuhlungu obusemhlane
• Amahlule egazi, angakheka kwabanye abantu
• Umchamo omnyama, ufika udlule
• Ukulinyazwa okulula noma ukopha
• Ubuhlungu bekhanda
• Ukuphelelwa umoya
• Ubuthakathaka, ukukhathala
• Pallor
• Ubuhlungu besifuba
• Kunzima ukugwinya

Ukubalwa kwamaseli egazi abomvu namhlophe kanye nokubalwa kweplatelet kungaba phansi.

Umchamo obomvu noma onsundu ukhombisa ukuwohloka kwamangqamuzana abomvu egazi nokuthi i-hemoglobin iyakhishwa ekujikelezeni komzimba futhi ekugcineni iye emchameni.

Ukuhlolwa okungenziwa ukuthola lesi simo kufaka:

• Qedela ukubalwa kwegazi (CBC)
• Ukuhlolwa kwama-Coombs
• Flow cytometry ukukala amaprotheni athile
• Ukuhlolwa kweHam (acid hemolysin)
• I-serum hemoglobin ne-haptoglobin
• Ukuhlolwa kwe-Sucrose hemolysis
• Ukuhlolwa komchamo
• Umchamo hemosiderin, urobilinogen, hemoglobin
• Ukuhlolwa kwe-LDH
• Ukubalwa kwe-Reticulocyte

Ama-steroid noma eminye imithi ecindezela amasosha omzimba angasiza ekunciphiseni ukonakala kwamaseli abomvu egazi. Ukumpontshelwa igazi kungadingeka. Insimbi eyengeziwe ne-folic acid inikezwa. Abanciphisi begazi bangadingeka futhi ukuvimbela amahlule ukuba akheke.

I-Soliris (eculizumab) isidakamizwa esisetshenziselwa ukwelapha i-PNH. Kuvimba ukuwohloka kwamangqamuzana abomvu egazi.

Ukufakelwa komnkantsha wethambo kungaselapha lesi sifo. Kungase futhi kumise ubungozi bokuthuthukisa i-PNH kubantu abane-aplastic anemia.

Bonke abantu abane-PNH kufanele bathole imigomo yokulwa nezinhlobo ezithile zamagciwane ukuvikela ukutheleleka. Buza umhlinzeki wakho wezokunakekelwa kwempilo ukuthi yikuphi okulungele wena.

Umphumela uyehluka. Iningi labantu lisinda iminyaka engaphezu kwengu-10 ngemuva kokuxilongwa. Ukufa kungavela ezinkingeni ezifana nokwakheka kwegazi (i-thrombosis) noma ukuphuma kwegazi.

Ezimweni ezingavamile, amaseli angavamile angancipha ngokuhamba kwesikhathi.

Izinkinga zingafaka:

• I-leukemia enamandla kakhulu
• I-aplastic anemia
• Amahlule egazi
• Ukufa
• I-hemolytic anemia
• Ukushoda kwe-iron anemia
• I-Myelodysplasia

Shayela umhlinzeki wakho uma uthola igazi emchameni wakho, uma izimpawu ziba zimbi noma zingathuthuki ngokwelashwa, noma uma kuvela izimpawu ezintsha.

Ayikho indlela eyaziwayo yokuvimbela lesi sifo.

PNH

• Amaseli egazi

UBrodsky RA. Paroxysmal ebusuku hemoglobinuria. Ku: Hoffman R, Benz EJ, Silberstein LE, et al, ama-eds. I-Hematology: Izimiso Eziyisisekelo Nokuzijwayeza. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 31.

UMichel M. Autoimmune kanye ne-intravascular hemolytic anemias. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 151.