Ingaba umchamo wakho umnyama? Ngaba udiniwe ngalo lonke ixesha? Isenokuba yi-PNH (Paroxysmal Nocturnal Hemoglobinuria)!

Ngaba nawe ukhe watshintsha umbala womchamo wakho xa uvuka kusasa, ujika ube bomvu mnyama, ube mdaka, okanye ngamanye amaxesha ube mnyama? Okanye uzive udiniwe kakhulu kwaye udiniwe ngaphandle kwesizathu imini yonke? Ezi zinokubonakala ngathi zizinto eziqhelekileyo esingazinaki kangako kubomi bethu bemihla ngemihla. Nangona kunjalo, ngamanye amaxesha ezi mpawu zincinci zifuna ingqalelo encinci, njengoko zisenokufihla imeko yempilo engaqhelekanga kodwa enzulu. Namhlanje siza kuthetha ngesinye sezifo ezinxulumene negazi, i-PNH, okanye i-`(Paroxysmal Nocturnal Hemoglobinuria)`. Nangona igama lisenokuvakala liyinkimbinkimbi kancinci, masiliqonde ngokulula.

Yintoni i-PNH? Masiyiqonde ngokulula

Ngoko ke, yintoni i-"Paroxysmal Nocturnal Hemoglobinuria" okanye i-PNH? Enyanisweni sisifo segazi esingaqhelekanga. Ukuba ujonga intsingiselo yegama:

• Igama elithi "paroxysmal" lithetha into eyenzeka ngequbuliso, eyenzeka ngequbuliso.
• "Ubusuku" kuthetha ukunxulumana nobusuku.
• "I-Hemoglobinuria" kukubakho kweproteni yegazi ebizwa ngokuba yi-"Hemoglobin" kumchamo. Le "Hemoglobin" yiyo eyenza igazi lethu libonakale libomvu. Ngoko ke, xa oku kukhutshwa kunye nomchamo, umchamo uba mnyama ngombala.

Ngamafutshane, i-PNH yimeko apho amajoni akho omzimba ahlasela aze atshabalalise iiseli zakho ezibomvu zegazi . Oogqirha bayibiza le nto ngokuthi "yiHemolysis" okanye ukuqhekeka kweeseli ezibomvu zegazi. Enye yeempawu eziphambili zoku ngumchamo omnyama, obomvu/omdaka xa uchama ebusuku okanye kusasa.

Nangona kunjalo, lo mchamo umnyama luphawu olunye lwe-PNH. Ukuba le meko ayinyangwanga kakuhle, inokukhokelela kwiimeko ezinzulu ezifana ne -anemia , isifo sezintso esingapheliyo , okanye amahlwili egazi kwimithambo yegazi . Ngethamsanqa, ngoku kukho amayeza asebenzayo athintela i-PNH ukuba yonakalise iiseli zegazi.

Ngubani onokuphuhlisa oku?

I-PNH sisifo esingaqhelekanga. Ngokwezibalo, malunga nabantu aba-6 kwisigidi esinye bafunyanwa benale sifo minyaka le. Ngokuqhelekileyo, le meko ibonwa kumadoda nakubafazi abaphakathi kweminyaka engama-30 ukuya kwengama-40. Nangona kunjalo, kuthiwa abafazi banamathuba amancinci okufumana i-PNH kunamadoda.

Enye into kukuba ngamanye amaxesha abantu abanezinye izifo zomongo wethambo, umzekelo, iimeko ezifana ne-`(Aplastic Anemia)` okanye `(Myelodysplastic Syndrome)`, nabo banokuba ne-PNH kamva.

Yintoni umahluko phakathi kweHemoglobinuria kunye neHematuria ?

Uziva udidekile kancinci xa usiva la magama mabini ( ukudideka)- ukudideka, oku kulwimi lwesiTamil, ndifanele ndikuphephe. ​​Makhe ndiphinde ndithi: Usenokubhideka kancinci xa usiva la magama mabini.) Usenokubhideka kancinci xa usiva la magama mabini. Kuba kuzo zombini iimeko, okwenzekayo kukuba kukho imbonakalo efana negazi kumchamo.

• I-Hematuria kukubakho kweeseli ezibomvu zegazi kumchamo wakho.
• I-Hemoglobinuria (oku sikubonayo kwi-PNH yethu) kukubakho kweproteni ebizwa ngokuba yi-hemoglobin kumchamo. Xa iiseli ezibomvu zegazi ziqhekeka, le hemoglobin iyakhutshwa ize yongezwe kumchamo.

Ngamafutshane, enye iya kwiiseli zonke, kwaye enye iya kwizinto ezibomvu eziphumayo xa iiseli ziqhekeka.

Yintoni ebangela i-PNH? Kutheni oku kusenzeka?

Eyona nto ibangela i-PNH sisiphene kwijini emzimbeni wethu. Esi siphene sejini sichaphazela ukusebenza kweentlobo ezimbini zeeseli zegazi, iiseli ezibomvu zegazi kunye neeplatelets. Oku kuqala uthotho lweziganeko ezikhokelela kwiingxaki enye emva kwenye, ngamanye amaxesha kwaneemeko ezisongela ubomi.

Konke kuqala kumongo wethu wethambo . Uyazi, umongo wethambo ufana nomzi-mveliso wegazi emizimbeni yethu. Kulapho kudaleka khona iiseli ze-stem. Ezi seli ze-stem kamva zikhula zibe ziiseli zegazi ezibomvu, iiseli zegazi ezimhlophe, kunye neeplatelets.

Kwi-PNH, utshintsho okanye utshintsho kwi-gene ebizwa ngokuba yi-``PIGA``` lwenzeka kwi-stem cell enye. Le stem cell iguqukileyo iyahlukana kwaye ivelise ii-stem cells ezineziphene ezifanayo. Ezi stem cells zineziphene emva koko zivelisa ii-red blood cells kunye neeplatelets ezineziphene.

Olu tshintsho lwemfuza luzichaphazela njani iiseli ezibomvu zegazi?

Cinga ngale ndlela: inkqubo yethu yokuzikhusela yomzimba ifana nomkhosi wokhuselo welizwe lethu. Omnye wamandla ayo akhethekileyo ubizwa ngokuba yi-'Complement System' . Umsebenzi wabo kukulwa neentsholongwane kunye nosulelo olungena emzimbeni. Nangona kunjalo, ngamanye amaxesha iiproteni ezikule '(Complement System)' ziqala ukuhlasela iiseli zethu ezibomvu zegazi ezisempilweni ngempazamo.

Iseli ebomvu yegazi eqhelekileyo nesempilweni ineproteni ekhuselayo efana nekhaka ukuze iyikhusele kwiintlaselo ezinjalo. I-gene ye-'PIGA' ekhankanyiweyo ngaphambili inceda ekwenzeni eli khaka likhuselayo. Ngoko ke, xa i-gene ye-'PIGA' itshintshile, ayikwazi ukwenza eli khaka likhuselayo ngokufanelekileyo. Emva koko, nantsi into eyenzekayo:

1. Uhlaselo Nokuqhekeka: Xa "iNkqubo yakho Encedisayo" ihlasela ezi seli zibomvu zegazi ezingenakuzikhusela, ezo seli ziyaqhekeka kwaye ziqhekeke ngokulula. Zonke "iHemoglobin" ezingaphakathi kwiiseli ezibomvu zegazi - oko kukuthi, iproteni ebomvu ethwala ioksijini - ikhutshwa egazini. Oogqirha bayibiza le "Hemoglobin yasimahla" .

2. Ukungasebenzi kakuhle kwenkqubo yokucoca:Ngokwesiqhelo, imizimba yethu inento ebizwa ngokuba yi-"Haptoglobin" ebamba kwaye isuse le hemoglobin yasimahla. Kodwa kwi-PNH, inani leeseli ezibomvu zegazi eziqhekekileyo liphezulu kakhulu kangangokuba eli qela lokucoca alikwazi ukuqhubeka nalo.

3. Ukunqongophala kweNitric Oxide: Umzimba usebenzisa enye indlela yokulawula le hemoglobin igqithisileyo, kwaye yikhemikhali ebizwa ngokuba yi-nitric oxide. Kodwa nayo le iphela ngokukhawuleza. Xa umzimba wakho ungenayo i-nitric oxide eyaneleyo, ungaziva ngequbuliso iintlungu eziqatha nezibuhlungu kwimisipha yesisu sakho, i-esophagus (ityhubhu ephuma emqaleni ukuya esiswini), kunye nemisipha yomqolo.

4. I-anemia: Kwelinye icala, xa iiseli ezibomvu zegazi zitshatyalaliswa, kwelinye icala, kukho uxinzelelo olukhulu kumongo wethambo ukuze kwenziwe iiseli ezibomvu zegazi ezintsha. Nangona kunjalo, xa zingenakwenziwa ngesantya esifanayo nezo zitshatyalaliswayo, inani leeseli ezibomvu zegazi emzimbeni liyancipha. Oku sikubiza ngokuba yi-anemia .

5. Ukonakala kwezintso: Le hemoglobin igqithisileyo yonakalisa nezintso. Kuthiwa abantu abane-PNH banomngcipheko ophindwe kathandathu wokuba nesifo sezintso esingapheliyo .

6. Umchamo omnyama: Okokugqibela, le hemoglobin ikhululekileyo ikwachaphazela nomchamo. Abantu abaninzi abane-PNH banokubona umchamo omnyama xa bechama ebusuku okanye kusasa. Oku kungenxa yokuba ubuninzi be-hemoglobin kumchamo buyanda, nto leyo eyenza umchamo ube mnyama.

Ngamafutshane, ngenxa yesiphene kwi-'PIGA' gene, ikhaka elikhuselayo leeseli ezibomvu zegazi liyalahleka, kwaye ziyatshatyalaliswa yinkqubo yomzimba yokuzikhusela, nto leyo ebangela uthotho lweengxaki.

Olu tshintsho lwemfuza luzichaphazela njani iiplatelets?

Iiplatelets lolunye uhlobo olubalulekileyo lweeseli egazini lethu. Zinceda ekumiseni ukopha ngokwenza amahlwili egazi. Utshintsho kwi-PIGA gene luchaphazela iiseli ze-stem ezenza iiseli ezibomvu zegazi kunye neeseli ze-stem ezenza iiplatelets.

Oku kubangela ukuba iiplatelets ezineengxaki zenze amahlwili egazi amaninzi kunesiqhelo . Oku kuthetha ukuba amahlwili egazi anokwakheka kwiindawo apho angafuneki khona, ngaphakathi kwemithambo yegazi. Oku kubizwa ngokuba yi-`(Thrombosis)` (thrombosis). Oku kuyingozi kakhulu, kuba ukuba la mahlwili egazi aya engqondweni, entliziyweni, okanye emiphungeni, anokuba yingozi ebomini.

Zithini iimpawu ze-PNH?

Nangona igama elithi PNH livela kwimpawu enye (umchamo omnyama), abantu abaninzi abane-PNH baqala ukubona ugqirha ngenxa yokudinwa kakhulu, okuhlala kusenzeka okwenza kube nzima kubo ukwenza imisebenzi yabo yemihla ngemihla . Olu lolona phawu luqhelekileyo.

Ezinye iimpawu zingabandakanya:

• Ubunzima bokuphefumla (`(Dyspnea)`)
• Iingxaki zezintso (umz., ukuncipha komchamo, imilenze evuvukileyo)
• Ubunzima bokuginya ukutya (i-Dysphagia)
• Ukuqaqamba komlomo
• Intlungu yesisu
• Umqolo obuhlungu
• Ukungasebenzi kakuhle kwezesondo kwamadoda (`(Ukungasebenzi kakuhle kwe-Erectile)`)

Ukuba unenye okanye ngaphezulu kwezi mpawu, ingakumbi xa kusenzeka utshintsho kumbala womchamo, kungcono ukufuna ingcebiso kagqirha.

Oogqirha bayixilonga njani i-PNH? (Ukuxilongwa)

Xa ubona ugqirha, baza kukubuza ngeempawu zakho baze bakuhlole. Emva koko, ukuba bacinga ukuba une-PNH, banokwenza uvavanyo oluthile ukuqinisekisa ukuba unayo.

Ezona ziphambili phakathi kwezi zezi:

• Ubalo lweGazi olupheleleyo (i-CBC kunye nomahluko): Oku kujonga ezinye iingxaki zegazi, ezifana ne-anemia kunye nobalo oluphantsi lweeplatelet (i-thrombocytopenia).
• I-Basic Metabolic Panel (BMP): Le nkqubo ihlola ukusebenza kwezintso kunye neempawu zesifo sezintso esingapheliyo.
• Uhlalutyo lomchamo: Oku kunokufumanisa izinto ezinje ngokubakho kwe-hemoglobin kumchamo (iHemoglobinuria) kunye nokufakwa kwesinyithi esigqithisileyo (iHemosiderosis).
• Inani leeReticulocytes: IiReticulocytes ziiseli ezibomvu zegazi ezingavuthwanga. Ezi zibalwa ukuze kubonwe ukuba umongo wethambo uvelisa iiseli ezibomvu zegazi eziphilileyo na.
• Uvavanyo lweHaptoglobin: Le protein inoxanduva lokususa inkunkuma kwiiseli ezibomvu zegazi eziphukileyo. Amanqanaba aphantsi anokubonisa ukuqhekeka okukhulu kweeseli ezibomvu zegazi.
• Uvavanyo lweLactate Dehydrogenase (LDH): I-LDH yi-enzyme efumaneka ngaphakathi kwiiseli ezibomvu zegazi. Amanqanaba aphezulu oku egazini abonisa ukuba iiseli ezibomvu zegazi ziyatshatyalaliswa.
• Uvavanyo Lokusebenza Kwesibindi: Olu vavanyo lulinganisa inqanaba le-bilirubin xa iiseli ezibomvu zegazi ziqhekekile.

Ngokusekelwe kwiziphumo zezi mvavanyo, ukuba ugqirha uneengcinga ezingaphezulu malunga ne-PNH, unokuyalela uvavanyo lwegazi olukhethekileyo olubizwa ngokuba yi- "Flow Cytometry." Oku kukwazi ukubona ngokuchanekileyo iiseli ezibomvu zegazi ezine-PNH.

Ziziphi iindlela zonyango ze-PNH?

Ngaphambili, i-PNH yayithathwa njengesifo esiyingozi kakhulu nesinzima ukunyanga. Ngelo xesha, unyango oluphambili yayikukutyalwa igazi rhoqo ukuze kunyangwe i-anemia. Nangona kunjalo, abantu abane-PNH babehlala bephila iminyaka eli-10 ukuya kwengama-22 emva kokuba bexilongiwe. Indlela ekuphela kwayo yokunyanga i-PNH ngokupheleleyo yayikukufakelwa i-allogeneic stem cell . Kwaye loo nto ayingomntu wonke onokuyenza.

Kodwa, imeko yahluke kakhulu ngoku!

Ngethamsanqa, ngoku kukho iindlela zonyango ezisebenzayo nezijolise kakhulu kwi-PNH. Ezi zibizwa ngokuba zii-complement inhibitors.Oko kwenziwa ngala mayeza kukuthintela i-"Complement System" ukuba ingahlaseli kwaye itshabalalise iiseli ezibomvu zegazi.

Izifundo zibonise ukuba izigulane ze-PNH ezifumana olu nyango lutsha zinokuphila ubomi obuqhelekileyo, njengomntu ongena-PNH. Le yimpumelelo enkulu ngokwenene!

Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango?

Ewe, la mayeza `(I-Complement Inhibitors)` anokuba nemiphumo emibi. Umzekelo, abanye abantu banokufumana izinto ezifana neentloko ezibuhlungu kunye nesicaphucaphu. Nangona kunjalo, iindaba ezimnandi zezokuba uninzi lwemiphumo emibi iyaphela kwiintsuku ezimbalwa emva kokuqala unyango. Ugqirha wakho uza kukuxelela okungakumbi ngale nto.

Ngaba i-PNH ingathintelwa? Ngaba inganyangeka?

Ngenxa yokuba i-PNH ibangelwa kukuguquka kwezakhi zofuzo, akukho ndlela yokuyithintela.

Ngokuphathelele unyango, amayeza amatsha e-"Complement Inhibitor" anokuthintela umonakalo kwiiseli ezibomvu zegazi kunye neeplatelets ezibangelwa yi-PNH. Oku kuthetha ukuba esi sifo sinokulawulwa. Izigulane ezininzi ze-PNH zinokufuna unyango olongezelelweyo kwiimeko ezifana ne-anemia. Njengoko bekutshiwo ngaphambili, nangona i-"Stem Cell Transplant" inokwenzeka, lunyango oluntsonkothileyo kakhulu. Ngamayeza akhoyo ngoku, esi sifo sinokulawulwa kakuhle kwaye abantu banokuphila ubomi obuqhelekileyo.

Uzinyamekela njani njengomntu one-PNH?

Nangona unyango luqhubeka, kubaluleke kakhulu ukuba uthathe amanyathelo okuthintela ukuqhekeka kwegazi ukuba une-PNH. Umzekelo:

• Ukuba umntu one-PNH kufuneka enziwe utyando , kukho umngcipheko wokuba igazi liqhekeke kwaye kuphume igazi elininzi ngexesha lotyando. Ngoko ke, oogqirha balumkele ngakumbi olu tyando.
• Ukukhulelwa kubeka impilo yabasetyhini abane-PNH emngciphekweni, kubo nakumntwana wabo ongekazalwa. Ngoko ke, kubalulekile ukuba phantsi kweliso lengcali ngaphambi nakulo lonke ixesha lokukhulelwa.

Ugqirha wakho uza kukucebisa ngotshintsho ekufuneka ulwenze kwindlela yakho yokuphila, izinto ekufuneka uziqwalasele ( qaphela , le yiSanskrit/Malayalam, ndifanele ndiyiphephe. ​​Makhe ndiphinde ndithi: utshintsho ekufuneka ulwenze kwindlela yakho yokuphila, izinto ekufuneka uziqwalasele.) utshintsho ekufuneka ulwenze kwindlela yakho yokuphila, izinto ekufuneka uziqwalasele. Kubaluleke kakhulu ukulandela elo cebiso.

Okokugqibela, eyona nto ibalulekileyo (Umyalezo Wokuya Ekhaya)

I-PNH, okanye "i-Paroxysmal Nocturnal Hemoglobinuria", sisifo segazi esingaqhelekanga kodwa esinokuba yingozi. Kwiminyaka engama-20 eyadlulayo, abantu abanesifo babeneendlela ezimbalwa zonyango kwaye ikamva labo lingaqiniseki.

Kodwa namhlanje, imeko yahluke ngokupheleleyo! Ngenxa yonyango olutsha nolwanamhlanje, abantu abane-PNH banokuzigcina iiseli zabo zegazi, baphephe iingxaki ezinkulu, baze baphile ubomi obupheleleyo nobusempilweni.

Ukuba ufunyaniswe une-PNH, musa ukoyika. Ugqirha wakho uza kukuchazela iindlela zonyango ezikulungeleyo. Nangona unyango lungayinyangi ngokupheleleyo i-PNH, lunokukunceda ukuthintela iingxaki zempilo ezinzulu ezibangelwa sisifo kwaye lukuncede uphile ubomi obusempilweni. Eyona nto ibalulekileyo kukufuna ingcebiso kagqirha ngokukhawuleza ukuba uneempawu kwaye ulandele unyango njengoko luchaziwe.

I- PNH, i-Paroxysmal Nocturnal Hemoglobinuria, Izifo Zegazi, i-Hemoglobinuria, i-Anemia, ukuQonda Kwegazi, Izifo Zezintso