Ingabe umchamo wakho umnyama? Ingabe ukhathele ngaso sonke isikhathi? Kungaba yi-PNH (Paroxysmal Nocturnal Hemoglobinuria)!

Ingabe nawe ushintsha umbala womchamo wakho uma uvuka ekuseni, uphenduka ube bomvu, ube nsundu, noma ngezinye izikhathi ube mnyama? Noma uzizwa ukhathele kakhulu futhi ukhathele ngaphandle kwesizathu phakathi nosuku? Lezi zingase zibonakale njengezinto ezivamile esingazinaki kakhulu ekuphileni kwethu kwansuku zonke. Kodwa-ke, ngezinye izikhathi lezi zimpawu ezincane zidinga ukunakwa okuncane, njengoba zingase zifihle isimo sempilo esingavamile kodwa esibucayi. Namuhla sizokhuluma ngesinye isimo esinjalo esihlobene negazi, i-PNH, noma i-`(Paroxysmal Nocturnal Hemoglobinuria)`. Nakuba igama lingase lizwakale liyinkimbinkimbi kancane, masiliqonde kalula.

Kuyini i-PNH? Masiqonde kalula

Ngakho-ke, iyini i-"Paroxysmal Nocturnal Hemoglobinuria" noma i-PNH? Empeleni kuyisifo segazi esingavamile kakhulu. Uma ubheka incazelo yegama:

• "I-Paroxysmal" isho okuzumayo, okwenzeka ngokuzumayo.
• "Ubusuku" kusho ukuhlobana nobusuku.
• I-"Hemoglobinuria" ukuba khona kweprotheni yegazi ebizwa ngokuthi ``Hemoglobin`` emchameni. Le ``Hemoglobin`` yiyo eyenza igazi lethu libukeke libomvu. Ngakho-ke, uma lokhu kukhishwa kanye nomchamo, umchamo uba mnyama ngombala.

Kalula nje, i-PNH yisimo lapho amasosha omzimba wakho ehlasela futhi abhubhise amangqamuzana akho abomvu egazi . Odokotela bakubiza ngokuthi "i-Hemolysis" noma ukuwohloka kwamangqamuzana abomvu egazi. Esinye sezimpawu eziyinhloko zalokhu umchamo omnyama, obomvu/onsundu uma uchama ebusuku noma ekuseni kakhulu.

Kodwa-ke, lo mchamo omnyama uwuphawu olulodwa nje lwe-PNH. Uma lesi simo singelashwa kahle, singaholela ezimweni ezimbi kakhulu njenge- anemia , isifo sezinso esingamahlalakhona , noma amahlule egazi emithanjeni yegazi . Ngenhlanhla, manje kunemithi ephumelelayo evimbela i-PNH ekulimazeni amangqamuzana egazi.

Ubani ongakuthuthukisa lokhu?

I-PNH iyisifo esingavamile kakhulu. Ngokwezibalo, cishe abantu abayi-6 kwabayisigidi esisodwa batholakala benalesi sifo minyaka yonke. Ngokuvamile, lesi simo sibonakala kokubili kwabesilisa nabesifazane abaneminyaka ephakathi kuka-30 no-40. Kodwa-ke, kuthiwa futhi abesifazane banamathuba amancane okuthola i-PNH kunabesilisa.

Enye into ukuthi ngezinye izikhathi abantu abanezinye izifo zomnkantsha wamathambo, isibonelo, izimo ezifana `(Aplastic Anemia)` noma `(Myelodysplastic Syndrome)`, nabo bangaba ne-PNH kamuva.

Uyini umehluko phakathi kwe-Hemoglobinuria ne -Hematuria ?

Uzizwa udidekile kancane uma uzwa la magama amabili ( ukudideka)- ukudideka, lokhu kuyisiTamil, kufanele ngikugweme. Ake ngiphinde ngikubeke kanje: Ungase udideke kancane uma uzwa la magama amabili.) Ungase udideke kancane uma uzwa la magama amabili. Ngoba kuzo zombili izimo, okwenzekayo ukuthi kukhona ukubukeka kwegazi emchameni.

• I-Hematuria ukuba khona kwamaseli abomvu egazi emchameni wakho.
• I-Hemoglobinuria (yilokhu esikubonayo ku-PNH yethu) ukuba khona kweprotheni ebizwa ngokuthi i-hemoglobin emchameni. Lapho amangqamuzana abomvu egazi ewohloka, le hemoglobin iyakhishwa bese ifakwa emchameni.

Kalula nje, elinye liya kuwo wonke amaseli, kanti elinye liya entweni ebomvu ephumayo lapho amaseli ewohloka.

Yini ebangela i-PNH? Kungani lokhu kwenzeka?

Imbangela eyinhloko ye-PNH ukukhubazeka kwesakhi sofuzo emzimbeni wethu. Lokhu kukhubazeka kwesakhi sofuzo kuthinta ukusebenza kwezinhlobo ezimbili zamaseli egazi, amaseli abomvu egazi nama-platelet. Lokhu kuqala uchungechunge lwezehlakalo eziholela ezinkingeni ngokulandelana, ngezinye izikhathi ngisho nezimo ezisongela ukuphila.

Konke kuqala emnkantsheni wethu wamathambo . Uyazi, umnkantshe ufana nefektri yegazi emizimbeni yethu. Yilapho kudalwa khona amaseli okuqala. Lawa maseli okuqala kamuva akhula abe amaseli abomvu egazi, amaseli amhlophe egazi, nama-platelet.

Ku-PNH, ukuguquka noma ushintsho ku-gene ebizwa ngokuthi ``PIGA`` kwenzeka ku-stem cell eyodwa. Le stem cell eguquliwe iyahlukana futhi ikhiqize ama-stem cell anephutha elifanayo. Lawa ma-stem cell anephutha abe esekhiqiza amaseli abomvu egazi nama-platelet anephutha.

Lolu shintsho lwezakhi zofuzo luthinta kanjani amangqamuzana abomvu egazi?

Cabanga ngale ndlela: isimiso sethu somzimba sokuzivikela sifana nebutho lezwe lethu. Elinye lamandla alo akhethekile libizwa ngokuthi 'uHlelo Lokugcwalisa '. Umsebenzi wabo ukulwa namagciwane kanye nokutheleleka okungena emzimbeni. Kodwa-ke, ngezinye izikhathi amaprotheni akulolu '(uHlelo Lokugcwalisa)' aqala ukuhlasela amaseli ethu abomvu egazi anempilo ngephutha.

Iseli elibomvu legazi elijwayelekile nelinempilo linomphetho weprotheni ofana nesivikelo ukuze ulivikele ekuhlaselweni okunjalo. I-gene ye-'PIGA' okukhulunywe ngayo ngaphambili iyasiza ekwenzeni lesi sivikelo sokuvikela. Ngakho-ke, lapho i-gene ye-'PIGA' iguquguquka, ayikwazi ukwenza lesi sivikelo sokuvikela kahle. Bese, nakhu okwenzekayo:

1. Ukuhlasela Nokuwohloka: Lapho "uHlelo lwakho Oluphelele" luhlasela la maseli abomvu egazi angenakuzivikela, lawo maseli aphuka kalula futhi aqhekeke. Yonke "i-Hemoglobin" engaphakathi kwamangqamuzana abomvu egazi - okungukuthi, iphrotheni ebomvu ethwala umoya-mpilo - ikhishwa egazini. Odokotela bakubiza lokhu ngokuthi "i-Hemoglobin yamahhala" .

2. Ukwehluleka kohlelo lokuhlanza:Ngokuvamile, imizimba yethu inomuthi obizwa ngokuthi "i-Haptoglobin" obamba futhi ukhiphe le hemoglobin yamahhala. Kodwa ku-PNH, inani lamaseli abomvu egazi aqhekekile liphezulu kakhulu kangangokuthi leli thimba lokuhlanza alikwazi ukuqhubeka nalo.

3. Ukuntuleka kwe-Nitric Oxide: Umzimba usebenzisa enye indlela yokulawula le hemoglobin eningi, futhi yikhemikhali ebizwa ngokuthi i-nitric oxide. Kodwa nalokhu kuphelelwa yisikhathi ngokushesha. Uma umzimba wakho ungenayo i-nitric oxide eyanele, ungazizwa ngokuzumayo ubuhlungu obukhulu emisipheni yesisu sakho, emhubheni (ipayipi eligijima lisuka emphinjeni liye esiswini), kanye nasemisipheni yangemuva.

4. I-anemia: Ngakolunye uhlangothi, lapho amangqamuzana abomvu ebhujiswa, ngakolunye uhlangothi, kuba nokucindezela okukhulu emnkantsheni wokwakha amangqamuzana amasha abomvu egazi. Kodwa-ke, uma engenziwa ngesivinini esifanayo nalawo abhujiswa ngaso, inani lamangqamuzana abomvu egazi emzimbeni liyancipha. Yilokhu esikubiza ngokuthi i-anemia .

5. Ukulimala kwezinso: Le hemoglobin eningi ilimaza nezinso. Kuthiwa abantu abane-PNH banengozi ephindwe kasithupha yokuthola isifo sezinso esingamahlalakhona .

6. Umchamo omnyama: Okokugcina, le hemoglobin yamahhala nayo ithinta umchamo. Abantu abaningi abane-PNH bangase babone umchamo omnyama lapho bechama ebusuku noma ekuseni kakhulu. Lokhu kungenxa yokuthi ukugcwala kwe-hemoglobin emchameni kuyanda, okwenza umchamo ube mnyama.

Kalula nje, ngenxa yephutha elisezakhini zofuzo ze-'PIGA', isivikelo samaseli abomvu egazi siyalahleka, futhi abhujiswa isimiso somzimba sokuzivikela ngokwaso, okubangela uchungechunge lwezinkinga.

Lolu shintsho lwezakhi zofuzo luthinta kanjani ama-platelet?

Ama-Platelet angolunye uhlobo olubalulekile lwamaseli egazini lethu. Asiza ekumiseni ukopha ngokwakha amahlule egazi. Ukuguquka kwezakhi zofuzo ze-PIGA kuthinta amaseli okuqala enza amaseli abomvu egazi kanye namaseli okuqala enza ama-platelet.

Lokhu kubangela ukuthi ama-platelet angasebenzi kahle akhe amahlule egazi amaningi kunokujwayelekile . Lokhu kusho ukuthi amahlule egazi angakheka ezindaweni lapho engadingeki khona, ngaphakathi kwemithambo yegazi. Lokhu kubizwa ngokuthi `(Thrombosis)` (thrombosis). Lokhu kuyingozi kakhulu, ngoba uma la mahlule egazi eya ebuchosheni, enhliziyweni, noma emaphashini, angaba yingozi empilweni.

Ziyini izimpawu ze-PNH?

Nakuba igama elithi PNH lisuselwa esibonakalisoni esisodwa (umchamo omnyama), abantu abaningi abane-PNH baqala ukubona udokotela ngenxa yokukhathala okukhulu okuqhubekayo okwenza kube nzima ngabo ukwenza imisebenzi yabo yansuku zonke . Lesi yisibonakaliso esivame kakhulu.

Ezinye izimpawu zingase zihlanganise:

• Ubunzima bokuphefumula (`(Dyspnea)`)
• Izinkinga zezinso (isib., ukuncipha kokuchama, ukuvuvukala kwemilenze)
• Ubunzima bokugwinya ukudla (i-Dysphagia)
• Ukuqina Komqala
• Ubuhlungu besisu
• Ukuhlungu obusemhlane
• Ukungasebenzi kahle kocansi kwabesilisa (`(Ukungasebenzi kahle kobulili)`)

Uma unesinye noma ngaphezulu salezi zimpawu, ikakhulukazi kanye nokushintsha kombala womchamo, kungcono ukufuna iseluleko sezokwelapha.

Odokotela bayixilonga kanjani i-PNH? (Ukuxilongwa)

Uma ubona udokotela, bazobuza ngezimpawu zakho bese bekuhlola. Uma besola ukuthi une-PNH, bangase benze izivivinyo ezithile ukuze baqinisekise ukuthi unayo.

Eziyinhloko phakathi kwalezi yilezi:

• Ukubalwa Kwegazi Okuphelele (i-CBC ene-diff): Lokhu kuhlola ezinye izinkinga zegazi, njenge-anemia kanye nokubalwa kwama-platelet aphansi (i-thrombocytopenia).
• Iphaneli Eyisisekelo Ye-Metabolic (BMP): Lokhu kuhlola ukusebenza kwezinso kanye nezimpawu zesifo sezinso esingamahlalakhona.
• Ukuhlolwa komchamo: Lokhu kungabona izinto ezifana nokuba khona kwe-hemoglobin emchameni (i-Hemoglobinuria) kanye nokufakwa kwensimbi ngokweqile (i-Hemosiderosis).
• Inani lama-Reticulocyte: Ama-Reticulocyte angamaseli abomvu egazi angavuthiwe. Lawa abalwa ukuze kubonakale ukuthi umnkantsha ukhiqiza amaseli abomvu egazi anempilo yini.
• Ukuhlolwa kwe-Haptoglobin: Le phrotheni inesibopho sokususa imfucuza emangqamuzaneni abomvu egazi aphukile. Amazinga aphansi angase abonise ukuwohloka okukhulu kwamangqamuzana abomvu egazi.
• Ukuhlolwa kwe-Lactate Dehydrogenase (LDH): I-LDH iyi-enzyme etholakala ngaphakathi kwamaseli abomvu egazi. Amazinga aphezulu alokhu egazini abonisa ukuthi amaseli abomvu egazi ayabhujiswa.
• Ukuhlolwa Kokusebenza Kwesibindi: Lokhu kuhlolwa kulinganisa izinga le-bilirubin lapho amaseli abomvu egazi ehlukana.

Ngokusekelwe emiphumeleni yalezi zivivinyo, uma udokotela enezinsolo ezengeziwe nge-PNH, angase acele ukuhlolwa kwegazi okukhethekile okubizwa ngokuthi ``Flow Cytometry.'' Yilokhu okungahlonza ngokunembile amangqamuzana abomvu egazi ane-PNH.

Yiziphi izindlela zokwelapha i-PNH?

Esikhathini esidlule, i-PNH yayibhekwa njengesifo esiyingozi kakhulu futhi esinzima ukwelapha. Ngaleso sikhathi, ukwelashwa okuyinhloko kwakuwukumpontshelwa igazi njalo ukuze kwelashwe i-anemia. Kodwa-ke, abantu abane-PNH babevame ukuphila iminyaka eyi-10 kuya kwengama-22 ngemva kokuxilongwa. Okuwukuphela kwendlela yokwelapha i-PNH ngokuphelele kwakuwukufakelwa i-allogeneic stem cell . Futhi lokho akuyona into wonke umuntu angayenza.

Kodwa, isimo sesihluke kakhulu manje!

Ngenhlanhla, manje kunezindlela zokwelapha ezisebenza kahle kakhulu neziqondiwe ze-PNH. Lezi zibizwa ngokuthi ama-complement inhibitors.Lokho okwenziwa yile mithi ukuvimba "i-Complement System" ukuthi ihlasele futhi ibhubhise amangqamuzana abomvu egazi.

Ucwaningo lubonise ukuthi iziguli ze-PNH ezithola lezi zindlela zokwelapha ezintsha zingaphila impilo ejwayelekile, njengomuntu ongenayo i-PNH. Lokhu kuyimpumelelo enkulu ngempela!

Ingabe ikhona imiphumela emibi yokwelashwa?

Yebo, le mithi ethi `(Izithibithi Zokuhlanganisa)` ingaba nemiphumela emibi. Isibonelo, abanye abantu bangase babe nezinto ezifana nekhanda elibuhlungu kanye nesicanucanu. Kodwa-ke, izindaba ezinhle ukuthi iningi lale miphumela emibi liyaphela ezinsukwini ezimbalwa zokuqala ukwelashwa. Udokotela wakho uzokutshela okwengeziwe ngalokhu.

Ingabe i-PNH ingavinjelwa? Ingabe ingelapheka?

Ngenxa yokuthi i-PNH ibangelwa ukuguquka kwezakhi zofuzo, ayikho indlela yokuyivimbela.

Ngokuphathelene nokwelashwa, imithi emisha ethi "Complement Inhibitor" ingavimba umonakalo kumaseli abomvu egazi nama-platelet abangelwa yi-PNH. Lokhu kusho ukuthi lesi sifo singalawulwa. Iziguli eziningi ze-PNH zingadinga ukwelashwa okwengeziwe kwezimo ezifana ne-anemia. Njengoba kushiwo ngaphambili, nakuba kungenzeka ukuthi "ukufakelwa i-Stem Cell", kuyindlela yokwelapha eyinkimbinkimbi kakhulu. Ngemithi yamanje, lesi sifo singaphathwa kahle futhi abantu bangaphila impilo evamile.

Uzinakekela kanjani njengomuntu one-PNH?

Ngisho noma ukwelashwa, kubaluleke kakhulu ukuthi uthathe izinyathelo zokuvimbela ukuqhekeka kwegazi uma une-PNH. Isibonelo:

• Uma umuntu one-PNH kufanele ahlinzwe , kunengozi yokuqhekeka kwegazi kanye nokopha ngokweqile ngesikhathi senqubo. Ngakho-ke, odokotela baqaphela kakhulu ngalokhu.
• Ukukhulelwa kubeka impilo yabesifazane abane-PNH engcupheni, kubo kanye nakumntwana ongakazalwa. Ngakho-ke, kubalulekile ukuba ngaphansi kokuqondisa kukachwepheshe ngaphambi naphakathi nokukhulelwa.

Udokotela wakho uzokweluleka ngezinguquko okudingeka uzenze endleleni yakho yokuphila, izinto okudingeka uzinake ( qaphela , lokhu kuyiSanskrit/Malayalam, kufanele ngikugweme. Ake ngiphinde ngithi: izinguquko okudingeka uzenze endleleni yakho yokuphila, izinto okudingeka uzinake.) izinguquko okudingeka uzenze endleleni yakho yokuphila, izinto okudingeka uzinake. Kubaluleke kakhulu ukulandela leso seluleko.

Okokugcina, into ebaluleke kakhulu (Umyalezo Wokuya Ekhaya)

I-PNH, noma "i-Paroxysmal Nocturnal Hemoglobinuria", iyisifo segazi esingavamile kodwa esingaba yingozi. Eminyakeni engaba ngu-20 edlule, abagulayo babenezinketho zokwelapha ezilinganiselwe kanye nekusasa elingaqinisekile.

Kodwa namuhla, isimo sihluke ngokuphelele! Ngenxa yezindlela zokwelapha ezintsha zesimanje, abantu abane-PNH bangalondoloza amangqamuzana abo egazi, bagweme izinkinga ezinkulu, futhi baphile impilo egcwele nenempilo.

Uma kutholakale ukuthi une-PNH, ungesabi. Udokotela wakho uzochaza izindlela zokwelapha ezikulungele. Nakuba ukwelashwa kungayiqedi ngokuphelele i-PNH, kungasiza ekuvimbeleni izinkinga ezinkulu zempilo ezibangelwa yilesi sifo futhi kukusize uphile impilo enempilo. Into ebaluleke kakhulu ukufuna iseluleko sezokwelapha ngokushesha okukhulu uma unezimpawu futhi ulandele ukwelashwa njengoba nje kuyalelwe.

I- PNH, i-Paroxysmal Nocturnal Hemoglobinuria, Izifo Zegazi, i-Hemoglobinuria, i-Anemia, Ukuvaleka Kwegazi, Izifo Zezinso