Ingabe uyaphuka kalula? Awuphuphi kalula? Ake sixoxe ngeGlanzmann Thrombasthenia (GT) !

Ingabe wena noma ingane yakho nithatha isikhathi eside ukuyeka ukopha ngisho noma nisikekile kancane? Noma ingabe ninamabala aluhlaza okwesibhakabhaka (imivimbo) emzimbeni wonke? Ngezinye izikhathi lokhu kubonakala kujwayelekile, kodwa ngezinye izikhathi kungaba yinto okufanele ikhathazeke ngayo. Yileso simo esizokhuluma ngaso namuhla, esibizwa ngokuthi i-Glanzmann Thrombasthenia (GT). Ungakhathazeki, sizogcina konke kulula.

Kuyini i-Glanzmann Thrombasthenia (GT)?

Kalula nje, i-Glanzmann Thrombasthenia (GT) yisimo sesikhathi eside (okungukuthi, impilo yonke) esibangela ukuthi ushayeke kalula futhi kube nobunzima bokuyeka ukopha. Imbangela eyinhloko inkinga ngama -platelet egazini lethu, amangqamuzana amancane asiza ukujiya kwegazi.

Cabanga nje, uma une-GT, ngenxa yokuguquka kwezakhi zofuzo emzimbeni wakho, lawa ma-platelet awakhiqizi iphrotheni ebalulekile edingekayo ukuze igazi lijiye. Ngenxa yalokhu, igazi lijiya kancane kakhulu. Umphumela uba ukuthi wopha kakhulu. Inani lalokhu kuphuma kwegazi lingahluka kumuntu nomuntu. Kwabanye abantu, lokhu kungaba ukopha okuncane okungalawulwa ekhaya. Kwabanye , kungaba kubi ngokwanele ukuthi kudingeke ukwelashwa okuphuthumayo .

Ivame kangakanani i-Glanzmann Thrombasthenia (GT)?

I-Glanzmann Thrombasthenia (GT) empeleni iyisimo esingavamile kakhulu. Ngokusho kochwepheshe bezokwelapha, umuntu oyedwa kuphela kwabayisigidi emhlabeni wonke ozalwa enalesi simo.

Kodwa-ke, kweminye imiphakathi lapho lokhu kuhlukahluka kwezakhi zofuzo kudluliselwa khona kusukela esizukulwaneni kuya kwesinye, leli nani liphakeme kancane. Okusho ukuthi, emiphakathini enjalo, cishe umuntu oyedwa kwabayizinkulungwane ezingamakhulu amabili angabona lesi simo. Kubikwa ukuthi inani lezingane ezizalwa nalesi simo se-GT liphezulu kakhulu kwamanye amazwe eMpumalanga Ephakathi, ezifundazweni zaseNewfoundland naseLabrador eCanada, kanye naphakathi komphakathi wamaRoma eFrance.

Ziyini izimpawu ze-Glanzmann Thrombasthenia (GT)?

Uma une-GT, ungase wophe kakhulu kunomunye umuntu uma ebenokulimala okufanayo. Noma ungase uqale ukopha ngokungalindelekile futhi ngaphandle kwesizathu esibonakalayo.

Izimpawu eziyinhloko ze-Glanzmann Thrombasthenia (GT) yilezi:

• Ukuphuka kalula: Ngisho neqhubu elincane lingabangela ukuphuka okukhulu.
• Izinsini eziphuma igazi: Izinsini zakho zingopha igazi kalula uma uxubha amazinyo akho.
• Ukopha kaningi ekhaleni (epistaxis): Abanye abantu bangase babe nokopha kaningi ngesonto, ngisho noma bemile nje.
• Amabala noma amabala ansomi esikhumbeni (i-purpura): Lawa ahlukile kumanxeba avamile futhi angaba amabala amakhulu.
• Amachashazi amancane ansomi, ansundu, noma abomvu esikhumbeni (i-petechiae): Lawa amachashazi amancane abukeka sengathi ahlatshwe yiphini.
• I-Menorrhagia: Ukopha ngokweqile ngesikhathi sokuya esikhathini kwabesifazane: Ukopha okunzima kakhulu kunokujwayelekile.

Ku-GT, ukuphuma kwegazi ngaphakathi akuvamile kakhulu njengokuphuma kwegazi esilondeni sesikhumba (njengokusikwa) noma ulwelwesi lwamafinyila (njengangaphakathi kwekhala noma umlomo).

Kungani kwenzeka i-Glanzmann Thrombasthenia (GT)? Ziyini izimbangela?

Izingane ezizalwa ne-Glanzmann Thrombasthenia (GT) zithola isici, noma ukuguqulwa , ku-gene eyenza iphrotheni ebizwa ngokuthi i-integrin alpha IIb/beta 3, esiza ama-platelet egazi ukuthi ajiye. Ukuze athuthukise i-GT, ingane kumele ithole i-gene enesici kunina nakuyise. Lokhu kubizwa ngokuthi i-autosomal recessive inheritance .

Ngokuvamile, abazali abazi ukuthi bangabathwali balesi sakhi sofuzo esingenasici. Lokhu kungenxa yokuthi kudingeka izakhi zofuzo ezimbili ezinasici ukuze kubonakale izimpawu. Umthwali ngumuntu onesakhi sofuzo esisodwa esijwayelekile kanye nesakhi sofuzo esisodwa esinasici.

Uma bobabili abazali benalesi sifo, banethuba elingu-25% lokuba nomntwana one-GT.

Ukuqala kamuva kwe-Glanzmann Thrombasthenia (GT)

Abanye abantu bangaba ne-GT kamuva ekuphileni. Lokhu akuvamile kakhulu. Ngisho noma kungenzeka, ochwepheshe bezokwelapha basahlukanisa i-Glanzmann Thrombasthenia (GT) njengesifo sokopha esizalwa naso .

Yile ndlela i-GT ekhula ngayo kamuva, lapho umzimba wakho wenza ama-antibodies ngokumelene neprotheni ye-integrin alpha IIb/beta 3 eshiwo ngenhla. Ezinye izifo, ngisho nemithi ethile, zingabangela lokhu. Kodwa umphumela uyafana. Ngenxa yokuthi awekho anele amaprotheni asebenzayo, kuthatha isikhathi eside ukuthi ama-platelet akho ajiye.

Yiziphi izinkinga ezingaba khona ze-Glanzmann Thrombasthenia (GT)?

Abesifazane bangaba ne -anemia yokuntuleka kwe-iron ngenxa yokopha kakhulu kokuya esikhathini. Ezimweni ezimbi kakhulu, i-GT ingabangela ukopha okukhulu, okusongela impilo (ukopha). Le ngozi iphezulu kakhulu ngezikhathi zokopha okukhulu , njengokubeletha noma ukuhlinzwa.

Kodwa ungakhathazeki, uma kutholakala ukuthi une-GT, udokotela wakho angathatha izinyathelo ezidingekayo ukuvimbela lezi zinkinga.

Wazi kanjani ukuthi unesifo i-Glanzmann Thrombasthenia (GT)? (Ukuxilongwa)

Odokotela basebenzisa izivivinyo ezahlukene ukuze bathole i-GT. Ivame ukutholakala ebuntwaneni. Njengomzali, uma ingane yakho iphuka kalula, inokopha kaningi ekhaleni, noma kuthatha isikhathi eside ukuyeka ukopha, ungase ufune ukuyisa ingane yakho kudokotela. Ngezinye izikhathi, ngezikhathi ezibalulekile empilweni yengane, isibonelo:

• Uma usoka ingane.
• Lapho izinyo lokuqala lomntwana liphuma.
• Uma kuyintombazane, yilapho efika esikhathini sakhe sokuqala (ukuya esikhathini).

Ngalesi sikhathi, ungase uqaphele ukopha ngokweqile noma okuqhubekayo. Abantu abangaphezu kuka-80% abane-Glanzmann Thrombasthenia (GT) batholakala benalesi sifo ngaphambi kokuba bafinyelele eminyakeni engu-14, kanti abaningi batholakala benalesi sifo ngaphambi kokuba bafinyelele eminyakeni engu-5. Abantu abatholakala benalesi sifo njengabantu abadala bangase bangazi ukuthi banaso kuze kube yilapho belimele kakhulu noma besengozini.

Yiziphi izivivinyo ezenziwayo ngalokhu?

Odokotela basebenzisa ukuhlolwa kwegazi ukuthola i-Glanzmann Thrombasthenia (GT). Lokhu kuhlolwa kungabonisa izinkinga nge:

• Ama-platelet akho: Ukuhlolwa kokubalwa kwegazi okuphelele (i-CBC) kungahlola ukuthi inani lama-platelet akho lijwayelekile yini. I-smear yegazi elingaphandle ingahlola nokuthi abukeka engajwayelekile yini.
• Ukuthi igazi lakho ligobile kangakanani: Ukuhlolwa okuningana, njengokuhlolwa kwe-Prothrombin Time (PT) kanye nokuhlolwa kwe-Partial Thromboplastin Time (PTT), kungalinganisa ukuthi igazi lakho ligobile ngokushesha nangokusebenza kahle kangakanani. Lokhu kungasiza futhi ekususeni izifo ezivame kakhulu zokopha ezinezimpawu ezifana ne-GT (isib. isifo se-von Willebrand, i-Bernard-Soulier syndrome).
• I-Integrin alpha IIb/beta3: Ukuhlolwa okufana ne-flow cytometry kanye namaphaneli e-antibody e-monoclonal kungasho ukuthi unesifo noma unephutha kule phrotheni. Kungaphinde kutholakale ukuthi unama-antibodies ahlasela le phrotheni.
• Izakhi zofuzo zakho: Ukuhlolwa kwezakhi zofuzo kungaqinisekisa ukuthi unezakhi zofuzo (izakhi zofuzo ezibizwa ngokuthi ITGA2B kanye ITGB3) ezibangela i-GT.

Yiziphi izindlela zokwelapha i-Glanzmann Thrombasthenia (GT)?

Uma kutholakale ukuthi une-GT, udokotela wakho uzokweluleka ngokuthi unganciphisa kanjani ingozi yakho yokopha. Cishe kuzodingeka usebenze nodokotela wegazi . Ngaphandle kwezinto ongazenza ukuvimbela ukopha, ukwelashwa kuzoncika ebunzimeni bokopha kwakho.

Ukopha okuncane kuya kokuphakathi

Izindlela zokwelapha ezimweni ezinjalo yilezi:

• Ukucindezela: Udokotela wakho uzokufundisa ukuthi ungayisebenzisa kanjani ingcindezi ukuze unciphise ukopha okuvela esilondeni futhi umise ukopha okuncane kwamakhala. Uma ukopha okukhulu kwamakhala, udokotela wakho angafaka into efana ne-gauze noma i-foam ekhaleni lakho ukuze amise ukopha (ukupakisha kwamakhala).
• Imithi: Ungadinga imithi efana ne-fibrin sealant (into efana ne-blood glue), i-gelatin foam, i-topical thrombin, kanye nama-antifibrinolytic agents ukusiza ukujiya kwegazi.

Ukopha okukhulu

Ukopha okukhulu okubangelwa yi-Glanzmann Thrombasthenia (GT) kudinga ukwelashwa okuphuthumayo . Ukwelashwa kufaka phakathi:

• Ukumpontshelwa ama-platelet: Kungase kudingeke ukuthi unikezwe ama-platelet ukuze umise ukopha okukhulu, noma ukuvimbela ukulahleka kwegazi ngaphambi kokuhlinzwa okukhulu noma ukubeletha. Lokhu kuhilela ukukunikeza ama-platelet avela kumnikeli onempilo.
• Ukumpontshelwa amangqamuzana abomvu egazi: Uma usuvele ulahlekelwe igazi eliningi, unganikwa namangqamuzana abomvu egazi ukuze agcwalise lelo nani.
• I-Recombinant coagulation factor VIIa (rFVIIa): Lo muthi ungadingeka uma ungafaneleki ukumpontshelwa ama-platelet.
• Ukufakelwa kweseli le-Hematopoietic stem: Ukufakelwa kweseli le-stem kuyindlela yokwelapha kuphela engase yelaphe i-GT. Lokhu kungaba inketho yamacala abucayi e-GT angenakulawulwa ngezinye izindlela. Kulokhu, amaseli e-stem avela kumnikeli afakwa emzimbeni wakho.

Ingabe kukhona izinkinga ekwelashweni?

Yebo, impela. Phakathi kuka-20% no-30% wabantu abathola ama-platelet bakha ama-antibodies amelene nawo ngokuhamba kwesikhathi. Lokhu kusho ukuthi ama-platelet amasha abawatholayo ngeke asebenze. Uma lokho kwenzeka, kuzodingeka uye kolunye ukwelashwa, njengomjovo we-rFVIIa. Kodwa lowo muthi unezingozi ezithile. Isibonelo, ungabangela ukuba igazi lakho lijiye kakhulu.

Nakuba ukufakelwa kwamaseli e-stem kungayilapha i-Glanzmann Thrombasthenia (GT), ukuthola umuntu ofanelana nomzimba wakho kungaba yinselele. Ekufakweni kwamaseli e-stem e-GT, abanikeli bavame ukuba yizihlobo. Ngisho noma kutholakala umuntu ofanelana naye, kunengozi yokuthi umzimba wakho uzowenqaba amaseli anikelayo. Lesi simo sibizwa ngokuthi i-Graft versus Host Disease (GvHD) .

Uma udokotela wakho ekhuluma nawe ngezinketho zokwelapha, uzochaza izingozi nezinzuzo kusengaphambili.

Hlobo luni lwekusasa umuntu one-GT angalulindela?

Abekho abantu ababili abane-Glanzmann Thrombasthenia (GT), noma ngabe bavela emndenini ofanayo futhi banezakhi zofuzo ezifanayo, ababhekana nalesi sifo ngendlela ehlukile. Ukuthi unesifo sokopha okungakanani nokuthi yini okudingeka uyenze ukuze uphathe isimo sakho kuzoncika esimweni sakho esithile.

Izindaba ezinhle ukuthi, ngokuphathwa kahle, iningi labantu abane-Glanzmann Thrombasthenia (GT) liphila impilo ejwayelekile yokuphila okuvamile. Kwezinye izimo, inani lokopha lingase linciphe njengoba bekhula.

Ngingaphila kanjani kahle ne-GT? (Indlela yokuzinakekela)

Uma une-GT, sebenzisana nodokotela wakho ukuze unciphise ingozi yokopha kanye ne-anemia enzima. Kufanele wenze lezi zinto:

• Yazi kahle ukuthi yimiphi imithi okungafanele uyithathe.Qiniseka ukuthi ugwema imithi yokunciphisa igazi (njenge-aspirin kanye neminye imithi ye-NSAID) kanye neminye imithi udokotela wakho akutshele ukuthi ungayisebenzisi.
• Nakekela impilo yakho yomlomo. Ukuxubha nokuhlikihla amazinyo akho nsuku zonke, nokubona udokotela wamazinyo njalo kungasiza ekunciphiseni ingozi yokopha kwezinsini.
• Nakekela kahle ikhala lakho. Ukugcina ingaphakathi lekhala lakho limanzi kungasiza ekunciphiseni ingozi yokopha kwamakhala. Ungasebenzisa i-humidifier, usebenzise i-nasal spray, noma ufake i-Vaseline encane ngaphakathi kwekhala lakho ukuze ulivimbele ukuthi lome.
• Lawula ukopha okukhulu kokuya esikhathini. Ukusebenzisa izindlela zokuvimbela inzalo ezihambisana namahomoni kungasiza ekuvimbeleni ukuya esikhathini okunzima. Khuluma nodokotela wakho wezifo zabesifazane ngalokhu.
• Gqoka isongo lokuxwayisa ngodokotela. Hlala uphethe ikhadi le-ID ukuze ukwazi ukuzibona unesifo sokopha esiphuthumayo. Kungasindisa impilo yakho.
• Yiba nohlelo lokuthi yini okufanele uyenze uma unesifo sokopha. Yazi ukuthi kufanele uyelaphe nini ekhaya nokuthi kufanele uye nini kudokotela ngokushesha. Yazi ukuthi kufanele ukhulume nobani nokuthi uye kuphi. Ngaleyo ndlela, ngeke kube sekwephuzile ukuthola ukwelashwa.

Kufanele ngimbone nini udokotela?

Uma wena noma ingane yakho nibonisa izimpawu zokopha kalula, bona udokotela. Ukulimala kanye nokopha ekhaleni kuvamile. Kodwa uma lezi zimpawu zenzeka njalo, noma uma ukopha kuthatha isikhathi eside ukuyeka - bona udokotela nakanjani.

Kufanele uye nini e-Emergency Treatment Unit (ETU) ?

Uma ukopha ongakwazi ukukuvimba, okuhlanganisa nokopha kakhulu kokuya esikhathini, hamba ngqo emnyangweni wezimo eziphuthumayo (ETU) ngaphandle kokwenza i-aphoyintimenti yokubonana nodokotela. Izimpawu okufanele uziqaphele zifaka:

• Ukopha ekhaleni okungapheli ihora.
• Ukugeleza okukhulu kokuya esikhathini okuhlala amahora amabili noma ngaphezulu, kumanzisa ama-tampon amabili noma ama-pad amabili ngehora noma ngaphezulu.

Imibuzo ebalulekile okufanele uyibuze udokotela wakho

Ungakhohlwa ukubuza imibuzo efana nale:

• Yiziphi izivivinyo okufanele zenziwe ukuze kutholakale isimo sami?
• Hlobo luni lokwelashwa engiludingayo?
• Yiziphi izinguquko zendlela yokuphila engingayenza ukuze ngiphathe isimo sami?
• Liyini ithuba lokuthi ingane yami ithole lesi simo se-GT?
• Ingabe ungincoma ukuthi ngihlolwe izakhi zofuzo uma ngicabanga ngokukhulelwa?

Ingabe ukubalwa kwama-platelet kuvamile kubantu abane-GT?

Ukubalwa kwamaplatelet ngokuvamile kuvamile ku-Glanzmann Thrombasthenia (GT).Inkinga akuyona inani lama-platelet. Kunalokho, kuyinkinga ngeprotheni esiza ama-platelet ukuthi anamathele ndawonye, ​​okuvimbela ama-platelet ukuthi ajiye ngempumelelo.

Uyini umehluko phakathi kwe-Glanzmann Thrombasthenia (GT) kanye ne-Bernard-Soulier syndrome (BSS)?

I-Glanzmann Thrombasthenia (GT) kanye ne-Bernard-Soulier syndrome (BSS) zombili ziyizimo zezakhi zofuzo ezingavamile ezithinta indlela igazi lakho elijiya ngayo. Kodwa zibangelwa ukushintshashintsha kwezakhi zofuzo okuhlukile. Izinkinga ezithile ngama-platelet akho egazi nazo zihlukile. Abantu abane-BSS bangaba nenani eliphansi lama-platelet kanye nama-platelet amakhulu ngokungavamile.

Izinto ezibaluleke kakhulu okufanele uzikhumbule kulokho esixoxe ngakho (Umyalezo Wokuya Ekhaya)

I-Glanzmann Thrombasthenia (GT) yisimo sokuphila konke okudingeka wena nodokotela wakho wegazi nisiqaphelisise. Nge-GT, ayikho indlela yokubikezela ukuthi ukopha kwakho kuzoba kubi kangakanani (noma kuncane kangakanani). Kodwa-ke, ukuthatha izinyathelo zokunciphisa ukopha kwakho kungakusiza ukuthi uhlale uphilile. Uma i-GT yakho inzima, ukwelashwa okufana nokumpontshelwa ama-platelet nakho kungasiza.

Nakuba ungenakukwazi ukulawula ukuzalwa unalesi simo, khumbula ukuthi unezinketho zokusiphatha ngendlela engaphazamisi izinga lempilo yakho. Ungesabi ukufuna iseluleko sezokwelapha nokuzinakekela. Khona-ke ungaphila kahle nalesi simo.