Koj cov zis puas tsaus? Koj puas nkees tas li? Tej zaum yuav yog PNH (Paroxysmal Nocturnal Hemoglobinuria)!

Thaum sawv ntxov koj puas muaj xim zis hloov pauv, hloov xim liab tsaus, xim av, lossis qee zaum dub? Los yog koj puas xav tias nkees thiab qaug zog heev yam tsis muaj laj thawj thoob plaws hnub? Tej zaum cov no zoo li yog tej yam ib txwm muaj uas peb tsis tau them sai sai rau hauv peb lub neej txhua hnub. Txawm li cas los xij, qee zaum cov tsos mob me me no xav tau kev saib xyuas me ntsis, vim tias lawv yuav zais ib qho mob tsis tshua muaj tab sis loj heev. Hnub no peb yuav tham txog ib qho mob ntsig txog ntshav, PNH, lossis '(Paroxysmal Nocturnal Hemoglobinuria)'. Txawm hais tias lub npe yuav zoo li nyuaj me ntsis, cia peb nkag siab yooj yim.

PNH yog dab tsi? Cia peb nkag siab yooj yim

Yog li, "Paroxysmal Nocturnal Hemoglobinuria" lossis PNH yog dab tsi? Nws yog ib qho mob ntshav tsis tshua muaj. Yog tias koj saib lub ntsiab lus ntawm lub npe:

• "Paroxysmal" txhais tau tias tam sim ntawd, tshwm sim tam sim ntawd.
• "Nocturnal" txhais tau tias cuam tshuam nrog hmo ntuj.
• "Hemoglobinuria" yog qhov muaj cov protein ntshav hu ua "Hemoglobin" nyob rau hauv cov zis. Qhov "Hemoglobin" no yog qhov ua rau peb cov ntshav zoo li liab. Yog li, thaum qhov no raug tso tawm nrog cov zis, cov zis yuav tsaus ntuj.

Hais yooj yim xwb, PNH yog ib qho mob uas koj lub cev tiv thaiv kab mob tawm tsam thiab rhuav tshem koj cov qe ntshav liab . Cov kws kho mob hu qhov no tias "Hemolysis" lossis kev tawg ntawm cov qe ntshav liab. Ib qho ntawm cov tsos mob tseem ceeb ntawm qhov no yog cov zis tsaus, liab/xim av thaum koj tso zis thaum hmo ntuj lossis thaum sawv ntxov.

Txawm li cas los xij, cov zis tsaus no tsuas yog ib qho tsos mob ntawm PNH xwb. Yog tias qhov mob no tsis kho kom zoo, nws tuaj yeem ua rau muaj mob hnyav xws li ntshav tsis txaus , mob raum ntev , lossis ntshav txhaws hauv cov hlab ntsha . Zoo hmoo, tam sim no muaj cov tshuaj zoo uas tiv thaiv PNH kom tsis txhob ua rau cov qe ntshav puas tsuaj.

Leej twg thiaj tsim tau qhov no?

PNH yog ib yam kab mob tsis tshua muaj. Raws li cov ntaub ntawv txheeb cais, muaj li ntawm 6 ntawm 1 lab tus tib neeg tau kuaj pom tias muaj tus kab mob no txhua xyoo. Feem ntau, tus mob no pom muaj rau cov txiv neej thiab cov poj niam hnub nyoog ntawm 30 thiab 40 xyoo. Txawm li cas los xij, kuj tau hais tias cov poj niam muaj feem yuav muaj PNH ntau dua li cov txiv neej.

Ib qho ntxiv yog tias qee zaum cov neeg uas muaj lwm yam kab mob pob txha, piv txwv li, cov mob xws li '(Aplastic Anemia)' lossis '(Myelodysplastic Syndrome)', kuj tuaj yeem mob PNH tom qab.

Qhov txawv ntawm Hemoglobinuria thiab Hematuria yog dab tsi?

Koj xav tias me ntsis tsis meej pem thaum koj hnov ​​​​ob lo lus no ( kev tsis meej pem)- kev tsis meej pem, qhov no yog lus Tamil, kuv yuav tsum zam nws. Cia kuv rov hais dua: Tej zaum koj yuav tsis meej pem me ntsis thaum koj hnov ​​ob lo lus no.) Tej zaum koj yuav tsis meej pem me ntsis thaum koj hnov ​​ob lo lus no. Vim tias ob qho tib si, qhov tshwm sim yog tias muaj cov ntshav nyob hauv cov zis.

• Hematuria yog qhov muaj cov qe ntshav liab hauv koj cov zis.
• Hemoglobinuria (qhov no yog qhov peb pom hauv peb cov PNH) yog qhov muaj cov protein hu ua hemoglobin nyob rau hauv cov zis. Thaum cov qe ntshav liab tawg, cov hemoglobin no raug tso tawm thiab ntxiv rau hauv cov zis.

Hais yooj yim xwb, ib qho mus rau tag nrho cov cell, thiab lwm qhov mus rau cov khoom liab uas tawm los thaum cov cell tawg.

Dab tsi ua rau muaj PNH? Vim li cas qhov no thiaj tshwm sim?

Qhov ua rau muaj PNH yog qhov tsis zoo ntawm ib hom noob caj noob ces hauv peb lub cev. Qhov tsis zoo ntawm noob caj noob ces no cuam tshuam rau kev ua haujlwm ntawm ob hom qe ntshav, cov qe ntshav liab thiab cov qe ntshav dawb. Qhov no pib ua ib txoj saw ntawm cov xwm txheej uas ua rau muaj teeb meem ib qho tom qab ib qho, qee zaum txawm tias muaj cov mob uas ua rau tuag taus.

Txhua yam pib hauv peb cov pob txha . Koj paub, cov pob txha zoo li lub chaw tsim cov ntshav hauv peb lub cev. Qhov no yog qhov uas cov hlwb noob raug tsim. Cov hlwb noob no tom qab ntawd loj hlob mus ua cov hlwb ntshav liab, cov hlwb ntshav dawb, thiab cov hlwb ntshav me.

Hauv PNH, kev hloov pauv lossis kev hloov pauv hauv ib lub noob hu ua "PIGA" tshwm sim hauv ib lub hlwb noob. Lub hlwb noob hloov pauv no faib thiab tsim cov hlwb noob uas zoo sib xws ntau dua. Cov hlwb noob uas tsis zoo no ces tsim cov qe ntshav liab thiab cov ntshav platelets uas tsis zoo.

Qhov kev hloov pauv caj ces no cuam tshuam li cas rau cov qe ntshav liab?

Xav txog nws li no: peb lub cev tiv thaiv kab mob zoo li peb lub teb chaws lub zog tiv thaiv. Ib qho ntawm nws cov tub rog tshwj xeeb hu ua 'Complement System' . Lawv txoj haujlwm yog los tawm tsam cov kab mob thiab cov kab mob uas nkag mus rau hauv lub cev. Txawm li cas los xij, qee zaum cov protein hauv '(Complement System)' no pib tawm tsam peb cov qe ntshav liab noj qab haus huv los ntawm kev ua yuam kev.

Ib lub qe ntshav liab uas zoo li qub thiab noj qab nyob zoo muaj ib txheej protein zoo li daim ntaub thaiv uas tiv thaiv nws ntawm kev tawm tsam zoo li no. Lub noob 'PIGA' uas tau hais ua ntej pab ua daim ntaub thaiv no. Yog li, thaum lub noob 'PIGA' hloov pauv, nws tsis tuaj yeem ua daim ntaub thaiv no kom raug. Tom qab ntawd, ntawm no yog qhov tshwm sim:

1. Kev Tawm Tsam thiab Kev Poob Qis: Thaum koj lub "Complement System" tawm tsam cov qe ntshav liab uas tsis muaj zog no, cov qe ntshav ntawd yooj yim tawg thiab tawg. Tag nrho cov "Hemoglobin" hauv cov qe ntshav liab - uas yog, cov protein liab uas nqa oxygen - raug tso tawm mus rau hauv cov ntshav. Cov kws kho mob hu qhov no "Free Hemoglobin" .

2. Kev ua tsis tau zoo ntawm lub tshuab ntxuav:Feem ntau, peb lub cev muaj ib yam khoom hu ua "Haptoglobin" uas ntes thiab tshem tawm cov hemoglobin dawb no. Tab sis hauv PNH, tus lej ntawm cov qe ntshav liab uas raug rhuav tshem yog siab heev uas pab pawg ntxuav no tsis tuaj yeem ua raws li.

3. Tsis txaus Nitric Oxide: Lub cev siv lwm txoj hauv kev los tswj cov hemoglobin ntau dhau no, thiab qhov ntawd yog ib yam tshuaj hu ua nitric oxide. Tab sis qhov no kuj ploj mus sai heev. Thaum koj lub cev tsis muaj nitric oxide txaus, koj tuaj yeem mob hnyav heev hauv koj cov leeg nqaij hauv plab, esophagus (lub raj uas khiav ntawm koj lub caj pas mus rau koj lub plab), thiab cov leeg nqaij nraub qaum.

4. Kab mob ntshav tsis txaus: Ib sab tes, thaum cov qe ntshav liab raug rhuav tshem, sab tes tod tes, muaj kev nyuaj siab ntau rau cov pob txha kom tsim cov qe ntshav liab tshiab. Txawm li cas los xij, thaum lawv tsis tuaj yeem tsim tau tib lub sijhawm thaum lawv raug rhuav tshem, tus lej ntawm cov qe ntshav liab hauv lub cev txo qis. Qhov no yog qhov peb hu ua kab mob ntshav tsis txaus .

5. Kev puas tsuaj rau lub raum: Cov hemoglobin ntau dhau no kuj ua rau lub raum puas tsuaj. Lawv hais tias cov neeg uas muaj PNH muaj feem yuav mob raum ntev txog rau npaug .

6. Cov zis tsaus ntuj: Thaum kawg, cov hemoglobin dawb no kuj cuam tshuam rau cov zis. Ntau tus neeg uas muaj PNH yuav pom cov zis tsaus ntuj thaum lawv tso zis thaum hmo ntuj lossis thaum sawv ntxov. Qhov no yog vim tias qhov concentration ntawm hemoglobin hauv cov zis nce ntxiv, ua rau cov zis tsaus ntuj.

Hais yooj yim xwb, vim muaj qhov tsis zoo ntawm cov noob 'PIGA', lub tiv thaiv ntawm cov qe ntshav liab ploj mus, thiab lawv raug rhuav tshem los ntawm lub cev tiv thaiv kab mob nws tus kheej, ua rau muaj ntau yam teeb meem.

Qhov kev hloov pauv caj ces no cuam tshuam li cas rau cov ntshav platelets?

Cov qe ntshav dawb yog lwm hom qe ntshav tseem ceeb hauv peb cov ntshav. Lawv pab tiv thaiv kom tsis txhob los ntshav los ntawm kev tsim cov ntshav txhaws. Qhov kev hloov pauv hauv PIGA gene cuam tshuam rau cov qe ntshav liab uas ua cov qe ntshav dawb thiab cov qe ntshav dawb uas ua cov qe ntshav dawb.

Qhov no ua rau cov platelets uas tsis zoo tsim cov ntshav txhaws ntau dua li qub . Qhov no txhais tau tias cov ntshav txhaws tuaj yeem tsim nyob rau hauv qhov chaw uas tsis xav tau lawv, sab hauv cov hlab ntsha. Qhov no hu ua '(Thrombosis)' (thrombosis). Qhov no txaus ntshai heev, vim tias yog tias cov ntshav txhaws no mus rau lub hlwb, lub plawv, lossis lub ntsws, lawv tuaj yeem ua rau tuag taus.

Cov tsos mob ntawm PNH yog dab tsi?

Txawm hais tias lub npe PNH yog los ntawm ib qho tsos mob (zis tsaus), ntau tus neeg uas muaj PNH thawj zaug mus ntsib kws kho mob vim yog qaug zog heev thiab tsis tu ncua uas ua rau nws nyuaj rau lawv ua lawv cov dej num txhua hnub . Qhov no yog cov tsos mob feem ntau tshwm sim.

Lwm cov tsos mob yuav muaj xws li:

• Ua pa nyuaj (`(Dyspnea)`)
• Teeb meem raum (piv txwv li, tso zis tsawg dua, ceg o)
• Nyuaj nqos zaub mov (Dysphagia)
• Kev Mob Hlwb Hauv Qhov Ncauj
• Mob plab
• Mob nraub qaum
• Kev ua tsis taus txiv neej txoj kev sib deev (`(Erectile Dysfunction)`)

Yog tias koj muaj ib lossis ntau yam ntawm cov tsos mob no, tshwj xeeb tshaj yog nrog rau kev hloov pauv ntawm cov xim zis, nws yog qhov zoo tshaj plaws kom nrhiav kev pab kho mob.

Cov kws kho mob kuaj mob PNH li cas? (Kev kuaj mob)

Thaum koj mus ntsib kws kho mob, lawv yuav nug koj txog koj cov tsos mob thiab kuaj koj. Tom qab ntawd, yog tias lawv xav tias koj muaj PNH, lawv yuav ua qee qhov kev kuaj mob kom paub tseeb tias koj muaj.

Cov tseem ceeb ntawm cov no yog:

• Kev suav cov ntshav tag nrho (CBC w/diff): Qhov no kuaj xyuas lwm yam teeb meem ntshav, xws li ntshav tsis txaus thiab cov ntshav platelet tsawg (thrombocytopenia).
• Basic Metabolic Panel (BMP): Qhov no kuaj xyuas seb lub raum ua haujlwm li cas thiab cov tsos mob ntawm tus kab mob raum ntev.
• Kev Kuaj Zis: Qhov no tuaj yeem kuaj pom tej yam xws li muaj hemoglobin nyob rau hauv cov zis (Hemoglobinuria) thiab cov hlau ntau dhau (Hemosiderosis).
• Kev suav cov qe ntshav liab (reticulocyte): Cov qe ntshav liab (reticulocytes) yog cov qe ntshav liab uas tseem tsis tau loj hlob. Cov qe ntshav no raug suav kom paub seb cov pob txha puas tsim cov qe ntshav liab noj qab nyob zoo.
• Kev Ntsuas Haptoglobin: Cov protein no yog lub luag haujlwm rau kev tshem tawm cov khoom pov tseg ntawm cov qe ntshav liab uas tawg lawm. Cov qib qis yuav qhia tau tias cov qe ntshav liab tawg ntau dhau.
• Kev kuaj Lactate Dehydrogenase (LDH): LDH yog ib qho enzyme pom nyob hauv cov qe ntshav liab. Cov qib no ntau hauv cov ntshav qhia tias cov qe ntshav liab raug rhuav tshem.
• Kev Ntsuas Kev Ua Haujlwm ntawm Lub Siab: Qhov kev ntsuas no ntsuas qib ntawm bilirubin thaum cov qe ntshav liab raug rhuav tshem.

Raws li cov txiaj ntsig ntawm cov kev kuaj no, yog tias tus kws kho mob muaj kev xav ntxiv txog PNH, nws tuaj yeem xaj kom kuaj ntshav tshwj xeeb hu ua "Flow Cytometry." Qhov no yog qhov uas tuaj yeem txheeb xyuas cov qe ntshav liab uas muaj PNH.

Cov kev kho mob rau PNH yog dab tsi?

Yav tas los, PNH raug suav hais tias yog ib yam kab mob txaus ntshai thiab nyuaj kho. Lub sijhawm ntawd, kev kho mob tseem ceeb yog kev hloov ntshav tas li kom kho tau kab mob ntshav tsis txaus. Txawm li cas los xij, cov neeg uas muaj PNH feem ntau nyob tau 10 txog 22 xyoo tom qab kuaj pom. Tib txoj kev los kho PNH kom zoo yog kev hloov hlwb hlwb allogeneic stem cell . Thiab qhov ntawd tsis yog ib yam dab tsi uas txhua tus neeg ua tau.

Tiam sis, qhov xwm txheej tam sim no txawv heev!

Zoo hmoo, tam sim no muaj cov kev kho mob zoo heev rau PNH. Cov no hu ua complement inhibitors.Cov tshuaj no ua yog tiv thaiv "Complement System" kom tsis txhob tawm tsam thiab rhuav tshem cov qe ntshav liab.

Cov kev tshawb fawb tau qhia tias cov neeg mob PNH uas tau txais cov kev kho mob tshiab no tuaj yeem ua neej nyob tau ib txwm, ib yam li ib tus neeg uas tsis muaj PNH. Qhov no yog ib qho kev ua tiav zoo kawg nkaus!

Puas muaj tej yam tshwm sim ntawm kev kho mob?

Yog lawm, cov tshuaj '(Complement Inhibitors)' no muaj peev xwm muaj qee qhov kev phiv. Piv txwv li, qee tus neeg yuav muaj tej yam xws li mob taub hau thiab xeev siab. Txawm li cas los xij, qhov xov xwm zoo yog tias feem ntau ntawm cov kev phiv no ploj mus hauv ob peb hnub tom qab pib kho mob. Koj tus kws kho mob yuav qhia koj ntxiv txog qhov no.

Puas tiv thaiv tau tus kab mob PNH? Puas kho tau?

Vim tias PNH yog tshwm sim los ntawm kev hloov pauv caj ces, tsis muaj txoj hauv kev los tiv thaiv nws.

Hais txog kev kho mob, cov tshuaj tshiab "Complement Inhibitor" tuaj yeem tiv thaiv kev puas tsuaj rau cov qe ntshav liab thiab cov platelets uas tshwm sim los ntawm PNH. Qhov no txhais tau tias tus kab mob tuaj yeem tswj tau. Ntau tus neeg mob PNH yuav xav tau kev kho mob ntxiv rau cov mob xws li ntshav tsis txaus. Raws li tau hais ua ntej, txawm hais tias "Stem Cell Transplant" ua tau, nws yog kev kho mob nyuaj heev. Nrog cov tshuaj tam sim no, tus kab mob tuaj yeem tswj tau zoo thiab tib neeg tuaj yeem ua neej nyob ib txwm.

Ua ib tug neeg uas muaj PNH, koj yuav saib xyuas koj tus kheej li cas?

Txawm tias tau kho mob lawm los, nws tseem ceeb heev rau koj ua cov kauj ruam los tiv thaiv cov ntshav txhaws yog tias koj muaj PNH. Piv txwv li:

• Yog tias ib tug neeg uas muaj PNH yuav tsum tau phais , muaj kev pheej hmoo ntawm cov ntshav txhaws thiab los ntshav ntau dhau thaum lub sijhawm phais. Yog li ntawd, cov kws kho mob yuav tsum ceev faj txog qhov no.
• Kev cev xeeb tub muaj kev pheej hmoo rau kev noj qab haus huv rau cov poj niam uas muaj PNH, ob qho tib si rau lawv tus kheej thiab rau lawv tus menyuam hauv plab. Yog li ntawd, nws yog ib qho tseem ceeb uas yuav tsum nyob hauv kev saib xyuas ntawm tus kws tshwj xeeb ua ntej thiab thoob plaws cev xeeb tub.

Koj tus kws kho mob yuav qhia koj txog kev hloov pauv uas koj yuav tsum tau ua hauv koj txoj kev ua neej, tej yam uas koj yuav tsum tau them sai sai rau ( kev mloog zoo , qhov no yog Sanskrit/Malayalam, kuv yuav tsum zam nws. Cia kuv rov hais dua: kev hloov pauv uas koj yuav tsum tau ua hauv koj txoj kev ua neej, tej yam uas koj yuav tsum tau them sai sai rau.) kev hloov pauv uas koj yuav tsum tau ua hauv koj txoj kev ua neej, tej yam uas koj yuav tsum tau them sai sai rau. Nws yog ib qho tseem ceeb heev uas yuav tsum ua raws li cov lus qhia ntawd.

Thaum kawg, qhov tseem ceeb tshaj plaws (Cov Lus Qhia Coj Mus Tsev)

PNH, lossis "Paroxysmal Nocturnal Hemoglobinuria", yog ib qho kab mob ntshav uas tsis tshua muaj tab sis muaj peev xwm ua rau muaj teeb meem loj. Kwv yees li 20 xyoo dhau los, cov neeg mob muaj kev kho mob tsawg thiab yav tom ntej tsis paub meej.

Tiamsis niaj hnub no, qhov xwm txheej txawv kiag li! Ua tsaug rau cov kev kho mob tshiab, niaj hnub no, cov neeg uas muaj PNH tuaj yeem khaws lawv cov qe ntshav, zam kev mob hnyav, thiab ua neej nyob zoo thiab noj qab nyob zoo.

Yog tias koj raug kuaj pom tias muaj PNH, tsis txhob ntshai. Koj tus kws kho mob yuav piav qhia txog cov kev kho mob uas zoo tshaj plaws rau koj. Txawm hais tias kev kho mob tsis kho tau PNH tag nrho, nws tuaj yeem pab tiv thaiv cov teeb meem kev noj qab haus huv loj uas tshwm sim los ntawm tus kab mob thiab pab koj ua neej noj qab nyob zoo. Qhov tseem ceeb tshaj plaws yog nrhiav kev pab kho mob sai li sai tau yog tias koj muaj cov tsos mob thiab ua raws li kev kho mob raws li tau teev tseg.

` PNH, Paroxysmal Nocturnal Hemoglobinuria, Cov Kab Mob Ntshav, Hemoglobinuria, Anemia, Ntshav Txhaws, Cov Kab Mob Raum