Ake sixoxe ngalesi sifo segazi esingavamile esibizwa ngokuthi i-PNH (Paroxysmal Nocturnal Hemoglobinuria)

Kunezifo ezivame kakhulu phakathi kwethu, kanye nezifo ezingavamile kakhulu, okungukuthi, ezingavamile kakhulu. Mhlawumbe awukaze uzwe ngesifo esinjalo. Namuhla sizokhuluma ngesifo esingavamile kangaka, kodwa esibalulekile esihlobene negazi esibalulekile ukusiphatha kahle. Igama laso yi-Paroxysmal Nocturnal Hemoglobinuria, esiyibiza ngokuthi i-PNH ngamafuphi.

Kalula nje, iyini i-PNH?

I-PNH akuyona inkinga yofuzo, kodwa yisifo esizuzwa njengefa noma esidluliselwa kubazali ezinganeni. Ingakhula nganoma yisiphi isikhathi sobudala. Kalula nje, umuntu onalesi sifo unesifo lapho isimiso somzimba sokuzivikela , uhlelo olusivikela ezifweni, luhlasela ngephutha futhi lubhubhise amangqamuzana abomvu egazi lawo. Cabanga ngaso njengesihlangu esenziwe ngamaprotheni akhethekile asivikela ezifweni. Amanye amangqamuzana abomvu egazi emzimbeni weziguli ze-PNH awanaso lesi sihlangu esivikelayo, okungukuthi, lawo maprotheni akhethekile. Ngakho-ke isimiso somzimba sokuzivikela siyawabona lawa maseli ngaphandle kwesihlangu, sicabanga ukuthi ayisihlaseli esiyingozi emzimbeni futhi siwabhubhise. Nakuba lesi simo singaba yingozi empilweni, ngokwelashwa okufanele, ungalawula izimpawu, unciphise izinkinga futhi uphile impilo enhle. Lesi sifo asithinti wonke umuntu ngendlela efanayo. Abanye abantu banokungakhululeki okuncane kuphela. Abanye bangathinteka kakhulu yiso. Ingozi enkulu amahlule egazi. Cishe ama-30% eziguli ze-PNH asengozini yokuthola amahlule egazi okungenani kanye empilweni yabo.

Iyini imbangela yalokhu?

Imbangela yalesi sifo ukuguquka kwezakhi zofuzo. Kodwa lokhu akuyona into ezuzwe njengefa. Lokho kusho ukuthi akuyona into oyithola kubazali bakho, futhi akuyona into oyidlulisela ezinganeni zakho. Lolu ushintsho olungahleliwe lwezakhi zofuzo olwenzeka ngesikhathi sokuphila. Ngenxa yalolu shintsho lwezakhi zofuzo, umnkantsha wakho uqala ukukhiqiza amangqamuzana abomvu egazi angavamile angenawo lawo maprotheni avikelayo. Ngakho-ke njengoba lawa maseli engavikelwe yisimiso somzimba sokuzivikela, aphuka kalula. Kwezokwelapha, sibiza le nqubo yokuqhekeka kwamangqamuzana egazi abomvu ngokuthi i-hemolysis . Abanye odokotela bakholelwa ukuthi i-PNH ihlobene nobuthakathaka emnkantsha. Ikakhulukazi, abantu abanesimo esibizwa ngokuthi i-aplastic anemia banamathuba amaningi okuthuthukisa i-PNH. Futhi, abantu abane-PNH bangaba ne-aplastic anemia kamuva. Kulesi simo esibizwa ngokuthi i-aplastic anemia, umnkantsha wamathambo uyeka ukukhiqiza amangqamuzana egazi amasha.

Ziyini izimpawu ze-PNH?

Lesi sifo siqanjwe ngenye yezimpawu zaso eziyinhloko. I-Paroxysmal isho ukuthi "kwenzeka ngokuzumayo", i-Nocturnal isho ukuthi "ebusuku", kanti i-Hemoglobinuria isho ukuthi "ukukhishwa kwe-hemoglobin emchameni". I-Hemoglobin yiprotheni enika igazi umbala walo obomvu. Ngakho-ke, lapho amangqamuzana abomvu egazi ewohloka, le hemoglobin ikhishwa emchameni, futhi umchamo okhishwa ebusuku noma ekuseni ungaba mnyama (njenge-cola) noma obomvu . Cishe abantu abangu-50% abane-PNH babhekana nalesi sibonakaliso. Izimpawu zibangelwa kakhulu yizizathu ezintathu:

• Ukuwohloka kwamangqamuzana abomvu egazi .
• Ukwehla kwenani lamaseli abomvu egazi (okubangela i-anemia).
• Amahlule egazi emithanjeni yegazi .

Uma unamangqamuzana egazi anezinkinga eziningi emzimbeni wakho, kulapho ungase ube nezimpawu eziningi. Uma usola kancane ukuthi une-blood clot efana nale,Yazisa udokotela wakho ngokushesha. Yiya eMnyangweni Wezimo Eziphuthumayo (ETU) wesibhedlela esiseduze ngokushesha, ikakhulukazi uma ubhekene nobunzima bokuphefumula, ubunzima bokukhuluma/bokubona, ikhanda elibuhlungu elizumayo, ubuhlungu besifuba, noma ukuxhuzula.

Indlela yokuxilonga lesi sifo ngokunembile?

Uma uya kudokotela wakho, uzobuza ngezimpawu zakho kanye nomlando wezokwelapha. Uzobe esekuhlola bese e-oda ukuhlolwa kwegazi. Ukuhlolwa okuyinhloko okwenziwa kulokhu ukuhlolwa kwegazi okukhethekile okubizwa ngokuthi i-flow cytometry . Yilokhu okuqinisekisa ukuthi amangqamuzana akho abomvu egazi anala maprotheni avikelayo. Ngaphezu kwalokho, inani lamangqamuzana egazi lakho (inani eligcwele legazi) kanye namazinga ensimbi nakho kuyahlolwa. Ngezinye izikhathi kungadingeka isampula yomnkantsha wamathambo.

Yiziphi izindlela zokwelapha i-PNH?

Kunemigomo emibili eyinhloko yokwelapha i-PNH. Eyokuqala ukuqeda izimpawu, kanti enye ukuvimbela izinkinga eziyingozi (ikakhulukazi amahlule egazi). Ukwelashwa okutholayo kuzoncika ebunzimeni besimo sakho.

• Izakhamzimba ezengeziwe: I-Folic acid kanye nezithasiselo zensimbi zinikezwa ukulawula i-anemia.
• Imithi ethile: Kunemithi efana ne-Eculizumab (Soliris) kanye ne-Ravulizumab (Ultomiris) evimbela ukuwohloka kwamangqamuzana abomvu egazi. Le mithi inikezwa ngemithambo yegazi. Inenzuzo yokulawula i-anemia, ukunciphisa isidingo sokumpontshelwa igazi ngaphandle, kanye nokunciphisa ingozi yokuqhekeka kwegazi. I-Pegcetacoplan (Empaveli) ingenye imithi emisha esetshenziselwa le njongo.
• Ukumpontshelwa Igazi: Uma i-anemia inzima, impumuzo yesikhashana ingatholakala ngokunikela ngegazi kumuntu ophilile.
• Ama-blood thinner: Ama-blood thinner anikezwa abantu abasengozini enkulu yokuqhekeka kwegazi.
• Ukufakelwa Kweseli Le-Bone Marrow Stem Cell : Lena yindlela kuphela yokwelapha i-PNH ngokuphelele . Lokhu kuhilela ukususa umongo wethambo onesifo kanye nokufakelwa amaseli okuqala kumuntu ophilile (ngokuvamile umfowabo nodadewabo). Kodwa-ke, ngoba le inqubo iyingozi kakhulu futhi iyinkimbinkimbi, ivame ukunconywa kuphela kubantu abasha abanesifo esibi kakhulu.

Udokotela wakho uzonquma ukuthi iyiphi indlela yokwelapha efaneleka kakhulu kuwe.

Kubaluleke kakhulu nokuzinakekela.

Uma uhlala ne-PNH, kubaluleke kakhulu kunanini ngaphambili ukuzinakekela.

• Ukudla okuhle: Yidla ukudla okunomsoco. Ukudla ukudla okucebile nge-iron (isipinashi, inyama) kanye nokuthile okucebile nge -vitamin C (amawolintshi, ama-tangerines) kusiza umzimba ukuthi umunce i-iron kangcono.
• Ukuzivocavoca: Ukukhathala kungenza kube nzima ukuzivocavoca. Buza udokotela wakho ukuthi yikuphi ukuzivocavoca okufanele.
• Zivikele ezifweni : Geza izandla zakho njalo. Gwema izindawo ezinabantu abaningi nezindawo lapho abantu abagulayo bekhona. Tshela udokotela wakho ngokushesha uma uqala umkhuhlane.
• Impilo yengqondo: Kuvamile ukuzizwa udabuke, uthukuthele, futhi ukhathazekile uma uthola ukuthi unesifo esingavamile njengalesi. Ukukhuluma ngale mizwa nomuntu omethembayo noma umeluleki kungaba impumuzo enkulu.
• Ukukhulelwa: Uma ungowesifazane ohlela ukukhulelwa, qiniseka ukuthi uthintana nodokotela wakho ngaphambi kokukhulelwa. I-PNH ingaba yingozi kuwe nakumntwana wakho ngesikhathi sokukhulelwa.

Umlayezo Wokuya Nawe Ekhaya

• I-PNH iyisifo segazi esingavamile esibangelwa ukuguquka kwezakhi zofuzo, kodwa asizuzwa njengefa.
• Inkinga enkulu neyingozi kakhulu yalesi sifo ukuqhekeka kwegazi. Hlala uqaphele izimpawu zaso eziyisixwayiso (ikhanda elibuhlungu kakhulu, ubuhlungu besifuba, ubunzima bokuphefumula).
• Nakuba lokhu kungaba yingozi empilweni, kunezindlela zokwelapha eziphumelela kakhulu ezitholakalayo namuhla zokulawula izimpawu nokuthuthukisa ikhwalithi yokuphila.
• Nakuba ukufakelwa umnkantsha wethambo kuwukuphela kokwelashwa okuphulukisayo ngokuphelele kwe-PNH, kuyingozi enkulu futhi kufanelekela kuphela iziguli ezikhethiwe.
• Kubaluleke kakhulu ukuhlala uxhumana nodokotela wakho njalo futhi ulandele imiyalelo yakhe.

I-Paroxysmal Nocturnal Hemoglobinuria, i-PNH, izifo zegazi ezingavamile, amaseli abomvu egazi, i-hemoglobinuria, i-anemia, ukujiya kwegazi, izimpawu ze-PNH, ukwelashwa kwe-PNH, ukufakelwa komnkantsha wamathambo