Ngaba ugruzuka lula? Awuphumi igazi lula? Makhe sithethe ngeGlanzmann Thrombasthenia (GT)!

Ngaba wena okanye umntwana wakho nithatha ixesha elide ukuyeka ukopha nokuba kuthe kwasilonda esincinci? Okanye ngaba ninamabala aluhlaza okwesibhakabhaka kuphela emzimbeni wenu? Ngamanye amaxesha la mabala abonakala eqhelekileyo, kodwa ngamanye amaxesha anokuba yinto exhalabisayo. Leyo yimeko esiza kuthetha ngayo namhlanje, ebizwa ngokuba yiGlanzmann Thrombasthenia (GT). Musa ukukhathazeka, siza kugcina yonke into ilula.

Yintoni iGlanzmann Thrombasthenia (GT)?

Ngamafutshane, iGlanzmann Thrombasthenia (GT) yimeko ehlala ixesha elide (oko kukuthi, ubomi bonke) ebangela ukuba ukruquke lula kwaye ube nobunzima bokuyeka ukopha. Isizathu esiphambili yingxaki yeeplatelets egazini lethu, iiseli ezincinci ezinceda ukujiya kwegazi.

Khawucinge nje, ukuba une-GT, ngenxa yotshintsho lwemfuza emzimbeni wakho, ezi platelets azivelisi iproteni ebalulekileyo efunekayo ekujiyeni kwegazi. Ngenxa yoku, ukujiya kwegazi kwenzeka kancinci kakhulu. Isiphumo kukuba wopha kakhulu. Ubungakanani bokujiya kwegazi bunokwahluka kumntu nomntu. Kwabanye abantu, oku kusenokuba kukopha okuncinci okunokulawulwa ekhaya. Kwabanye , kunokuba nzima ngokwaneleyo ukuba kufuneke unyango olungxamisekileyo .

Ixhaphake kangakanani iGlanzmann Thrombasthenia (GT)?

I-Glanzmann Thrombasthenia (GT) yimeko engaqhelekanga kakhulu. Ngokutsho kweengcali zonyango, ngumntu omnye kuphela kwisigidi emhlabeni wonke ozalwa enale meko.

Nangona kunjalo, kwezinye iindawo apho olu tshintsho lwemfuza ludluliselwa kwizizukulwana ngezizukulwana, eli nani liphezulu kancinci. Oko kukuthi, kwiindawo ezinjalo, malunga nomntu omnye kumakhulu amabini amawaka angayibona le meko. Kubikwa ukuba inani leentsana ezizalwa nale meko ye-GT liphezulu kakhulu kwamanye amazwe akuMbindi Mpuma, kumaphondo aseNewfoundland naseLabrador eCanada, nakuluntu lwamaRomani eFransi.

Zithini iimpawu zeGlanzmann Thrombasthenia (GT)?

Ukuba une-GT, ungopha igazi elingaphezulu kunabanye abantu ukuba bebenokwenzakala okufanayo. Okanye ungaqala ukopha ngequbuliso kwaye kungekho sizathu sicacileyo.

Iimpawu eziphambili zeGlanzmann Thrombasthenia (GT) zezi:

• Ukugruzuka lula kakhulu: Nokuba iqhuma elincinci linokubangela ukugruzuka okukhulu.
• Iintsini ezikhupha igazi: Iintsini zakho zinokopha ngokulula xa uhlamba amazinyo akho.
• Ukopha rhoqo kwempumlo (epistaxis): Abanye abantu banokuba nokopha rhoqo kwempumlo izihlandlo ezininzi ngeveki, nokuba bame nje.
• Amabala amfusa okanye amabala amfusa eluswini (i-purpura): La ahlukile kwimivumbo eqhelekileyo kwaye anokuba ngamabala amakhulu.
• Amachaphaza amancinci amfusa, amdaka, okanye abomvu eluswini (i-petechiae): La ngamachaphaza amancinci abonakala ngathi ahlatywe yipini.
• I-Menorrhagia: Ukopha kakhulu ngexesha lokuya exesheni kwabasetyhini: Ukopha kakhulu kunokwesiqhelo.

Kwi-GT, ukopha ngaphakathi akuqhelekanga kakhulu njengokuphuma kwegazi kwinxeba lolusu (njengokusikwa) okanye kwiinwebu ze-mucous (njengangaphakathi kwempumlo okanye emlonyeni).

Kutheni iGlanzmann Thrombasthenia (GT) isenzeka? Zithini izizathu?

Iintsana ezizalwa zineGlanzmann Thrombasthenia (GT) zizuza isiphene, okanye i-mutation , kwi-gene eyenza iproteni ebizwa ngokuba yi-integrin alpha IIb/beta 3, enceda iiplatelets zegazi ukuba zijijeke. Ukuze umntwana aphuhlise i-GT, kufuneka azuze i-gene enesiphene kumama nakutata wakhe. Oku kubizwa ngokuba yi-autosomal recessive inheritance .

Amaxesha amaninzi, abazali abazi ukuba bangabathwali bale jini inesiphako. Oku kungenxa yokuba kufuneka iijini ezimbini ezinesiphako ukuze kubonakale iimpawu. Umthwali ngumntu onejini enye eqhelekileyo kunye nejini enye enesiphako.

Ukuba bobabini abazali bane-GT, banethuba elingama-25% lokuba nomntwana one-GT.

Ukuqala kamva kweGlanzmann Thrombasthenia (GT)

Abanye abantu banokuba ne-GT kamva ebomini. Oku kunqabile kakhulu. Nangona kunokwenzeka, iingcali zonyango zisabeka iGlanzmann Thrombasthenia (GT) njengesifo sokopha esizalwa naso .

Le yindlela i-GT ephuhla ngayo kamva, xa umzimba wakho usenza ii-antibodies ezichasene neproteni ye-integrin alpha IIb/beta 3 ekhankanyiweyo. Ezinye izifo, kwanezinye iiyeza, zinokubangela oku. Kodwa isiphumo siyafana. Ngenxa yokuba iproteni esebenzayo ayonelanga, kuthatha ixesha elide ukuba iiplatelets zakho zijijeke.

Ziziphi iingxaki ezinokubakho zeGlanzmann Thrombasthenia (GT)?

Abafazi banokufumana i-anemia enqongopheleyo ngenxa yokopha kakhulu ukuya exesheni. Kwiimeko ezinzima, i-GT inokubangela ukopha okukhulu, okusongela ubomi (ukopha igazi). Le ngozi iphezulu kakhulu ngexesha lokopha kakhulu , njengokubeletha okanye utyando.

Kodwa ungakhathazeki, ukuba ufunyaniswe une-GT, ugqirha wakho unokuthatha amanyathelo afunekayo ukuthintela ezi ngxaki.

Ungazi njani ngokuqinisekileyo ukuba uneGlanzmann Thrombasthenia (GT)? (Ukuxilongwa)

Oogqirha basebenzisa iimvavanyo ezahlukeneyo ukuxilonga i-GT. Idla ngokufunyaniswa ebuntwaneni. Njengomzali, ukuba umntwana wakho ugruzuka lula, uphuma igazi rhoqo empumlweni, okanye kuthatha ixesha elide ukuyeka ukopha, unokufuna ukumsa umntwana wakho kugqirha. Ngamanye amaxesha, ngamaxesha abalulekileyo ebomini bomntwana, umzekelo:

• Xa usoluka umntwana.
• Xa izinyo lokuqala lomntwana liphuma.
• Ukuba yintombazana, kulapho ifikelela khona exesheni layo lokuqala (ukuya exesheni).

Ngeli xesha, ungabona ukopha kakhulu okanye okuqhubekayo. Abantu abangaphezu kwama-80% abaneGlanzmann Thrombasthenia (GT) baxilongwa bengekafiki kwiminyaka eli-14 ubudala, kwaye uninzi lwabo luxilongwa bengekafiki kwiminyaka emi-5 ubudala. Abantu abaxilongwa benesifo se-GT njengabantu abadala basenokungazi ukuba banaso de babe nomonzakalo omkhulu okanye ingozi.

Zeziphi iimvavanyo ezenziwayo koku?

Oogqirha basebenzisa uvavanyo lwegazi ukuxilonga iGlanzmann Thrombasthenia (GT). Olu vavanyo lunokubonisa iingxaki nge:

• Iiplatelets zakho: Uvavanyo lwe-complete blood count (CBC) lunokujonga ukuba inani leeplatelets zakho liqhelekile na. I-peripheral blood smear inokujonga nokuba aziqhelekanga na.
• Indlela igazi lakho eliqhekeka ngayo: Uvavanyo oluninzi, olufana novavanyo lweProthrombin Time (PT) kunye novavanyo lwePartial Thromboplastin Time (PTT), lunokulinganisa ukuba igazi lakho liqhekeka ngokukhawuleza nangokufanelekileyo kangakanani. Oku kunokunceda ekuthinteleni iingxaki zokopha eziqhelekileyo ezineempawu ezifanayo nezeGT (umz., isifo se-von Willebrand, isifo seBernard-Soulier).
• I-Integrin alpha IIb/beta3: Uvavanyo olufana ne-flow cytometry kunye neepaneli ze-antibody ze-monoclonal zinokubona ukuba unesiphene okanye unesiphene kule protein. Zinokufumanisa nokuba unee-antibodies ezihlasela le protein.
• Iijini zakho: Uvavanyo lwejini lunokuqinisekisa ukuba ngaba uneziguquguquko zejini (iijini ezibizwa ngokuba yi-`ITGA2B` kunye ne-`ITGB3`) ezibangela i-GT.

Ziziphi iindlela zonyango zeGlanzmann Thrombasthenia (GT)?

Ukuba ufunyaniswe une-GT, ugqirha wakho uza kukucebisa ngendlela yokunciphisa umngcipheko wakho wokopha. Kuya kufuneka usebenze nogqirha wegazi . Ngaphandle kwezinto onokuzenza ukuthintela ukopha, unyango luya kuxhomekeka kubukhulu bokopha kwakho.

Ukopha okuncinci ukuya kokuphakathi

Unyango lweemeko ezinjalo zezi:

• Uxinzelelo: Ugqirha wakho uza kukufundisa indlela yokufaka uxinzelelo ukunciphisa ukopha enxebeni kunye nokuthintela ukopha okuncinci kwempumlo. Xa ukopha kakhulu kwempumlo, ugqirha wakho angakufaka into efana ne-gauze okanye i-foam ngaphakathi kwempumlo yakho ukuze ayeke ukopha (ukupakisha impumlo).
• Amayeza: Ungadinga amayeza anjenge-fibrin sealant (into efana neglue yegazi), i-gelatin foam, i-topical thrombin, kunye nee-antifibrinolytic agents ukunceda ukujiya kwegazi.

Xa ukopha kakhulu

Ukopha kakhulu okubangelwa yiGlanzmann Thrombasthenia (GT) kufuna unyango olungxamisekileyo . Unyango luquka:

• Utofelo-gazi oluvela kwiPlatelet: Kusenokufuneka ukuba unikwe iiplatelet ukuze uyeke ukopha kakhulu, okanye ukuthintela ukulahleka kwegazi ngaphambi kotyando olukhulu okanye ukuzala. Oku kuquka ukunika iiplatelet ezivela kumnikeli ophilileyo.
• Utofelo-gazi olubomvu: Ukuba sele ulahlekelwe ligazi elininzi, unganikwa neeseli ezibomvu zegazi ukuze zizalise elo nani.
• I-Recombinant coagulation factor VIIa (rFVIIa): Eli yeza lisenokufuneka ukuba awufanelekanga ukufakelwa iiplatelet.
• Ukufakelwa kweeseli ze-Hematopoietic stem: Ukufakelwa kweeseli ze-stem lolona nyango lunokunyanga i-GT. Olu lukhetho kwiimeko ezinzima ze-GT ezingenakulawulwa ngezinye iindlela. Kule meko, iiseli ze-stem ezivela kumntu onikelayo zifakwa emzimbeni wakho.

Ngaba kukho naziphi na iingxaki kunyango?

Ewe, ngenene. Phakathi kwama-20% nama-30% abantu abafumana iiplatelets bavelisa ii-antibodies ezichasene nazo ngokuhamba kwexesha. Oku kuthetha ukuba iiplatelets ezintsha abazifumanayo azizukusebenza. Ukuba oko kuyenzeka, kuya kufuneka uye kolunye unyango, olufana nenaliti ye-rFVIIa. Kodwa elo yeza likwanazo neengozi ezithile. Umzekelo, linokubangela ukuba igazi lakho lijiye kakhulu.

Nangona ukufakelwa kweeseli ze-stem kunokunyanga i-Glanzmann Thrombasthenia (GT), ukufumana umntu ofanela umzimba wakho kunokuba ngumceli mngeni. Kukufakelwa kweeseli ze-stem ze-GT, abanikeli badla ngokuba ngabazalwana. Nokuba kufunyenwe umntu ofanelanayo, kukho umngcipheko wokuba umzimba wakho uza kuwalahla amaseli anikelayo. Le meko ibizwa ngokuba yi -Graft versus Host Disease (GvHD) .

Xa ugqirha wakho ethetha nawe ngeendlela zonyango, uza kuchaza iingozi kunye neenzuzo kwangaphambili.

Luhlobo luni lwekamva umntu one-GT anokululindela?

Akukho bantu babini abaneGlanzmann Thrombasthenia (GT), nokuba bavela kusapho olunye kwaye bane-genetic mutation efanayo, abafumana esi sifo ngendlela eyahlukileyo. Ukuba ungakanani ukopha kunye noko kufuneka ukwenze ukulawula imeko yakho kuya kuxhomekeka kwimeko yakho ethile.

Iindaba ezimnandi zezokuba, ngokulawulwa ngendlela efanelekileyo, uninzi lwabantu abaneGlanzmann Thrombasthenia (GT) baphila ubomi obuqhelekileyo obunexesha eliqhelekileyo lobomi. Kwezinye iimeko, inani lokopha linokuncipha njengoko bekhula.

Ndingaphila njani kakuhle ne-GT? (Indlela yokuzinyamekela)

Ukuba une-GT, sebenzisana nogqirha wakho ukunciphisa umngcipheko wakho wokopha kunye ne-anemia enzima. Kufuneka wenze ezi zinto zilandelayo:

• Yazi kakuhle ukuba zeziphi amayeza ongafanele uwasebenzise.Ngokuqinisekileyo hlala kude nezinto zokunciphisa igazi (ezifana ne-aspirin kunye nezinye ii-NSAID) kunye nezinye iziyobisi ugqirha wakho akuxelele ukuba ungazithathi.
• Lumka kakuhle impilo yomlomo wakho. Ukuxubha amazinyo akho yonke imihla, nokubona ugqirha wamazinyo rhoqo kunokunceda ukunciphisa umngcipheko wokopha kweentsini.
• Nawe yikhathalele impumlo yakho. Ukugcina ingaphakathi lempumlo yakho limanzi kunokunceda ukunciphisa umngcipheko wokuphuma kwegazi empumlweni. Ungasebenzisa i-humidifier, usebenzise i-nasal spray, okanye uthambise i-Vaseline encinci empumlweni yakho ukuze ingami.
• Lawula ukopha kakhulu exesheni. Ukusebenzisa ucwangciso lokuzala olusebenzisa iihomoni kunokunceda ukuthintela ukuya exesheni kakhulu. Thetha nogqirha wakho wezifo zabesifazane ngale nto.
• Nxiba isongo sesilumkiso sonyango. Soloko uphatha ikhadi lesazisi ukuze uzazise njengomntu onesifo sokopha xa kukho imeko engxamisekileyo. Oku kungasindisa ubomi bakho.
• Yiba nesicwangciso sento omawuyenze xa unesifo sokopha. Yazi ukuba uza kunyanga nini ekhaya kwaye uza kubona ugqirha ngokukhawuleza. Yazi ukuba uza kuthetha nabani kwaye uye phi. Ngale ndlela, akuyi kuba semva kwexesha ukufumana unyango.

Ndifanele ndimbone nini ugqirha?

Ukuba wena okanye umntwana wakho nibonisa iimpawu zokopha ngokulula, bona ugqirha. Ukudumba nokuphuma kwegazi empumlweni kuqhelekile. Kodwa ukuba ezi mpawu zivela rhoqo, okanye ukuba ukopha kuthatha ixesha elide ukuyeka - ngokuqinisekileyo bona ugqirha.

Ufanele uye nini kwiYunithi yoNyango oluNgxamisekileyo (i-ETU) ?

Ukuba ukopha kwakho akunakukunqanda, kuquka ukopha kakhulu xa usexesheni, yiya ngqo kwicandelo likaxakeka (ETU) ngaphandle kokwenza idinga lokubonana nogqirha. Iimpawu ekufuneka uziqaphele ziquka:

• Ukopha impumlo okungapheli iyure.
• Ukuya exesheni kakhulu kuthatha iiyure ezimbini nangaphezulu, kumanzisa ii-tampon ezimbini okanye ii-pad ezimbini ngeyure nangaphezulu.

Imibuzo ebalulekileyo yokubuza ugqirha wakho

Ungalibali ukubuza imibuzo efana nale:

• Zeziphi iimvavanyo ekufuneka zenziwe ukuze kufunyaniswe imeko yam?
• Luhlobo luni lonyango endiludingayo?
• Zeziphi iinguqu endinokuzitshintsha kwindlela endiphila ngayo ukuze ndikwazi ukulawula imeko yam?
• Lithini ithuba lokuba umntwana wam azuze esi sifo se-GT?
• Ingaba nicebisa uvavanyo lwemfuza ukuba ndicinga ngokukhulelwa?

Ngaba ukubalwa kweeplatelet kuqhelekile kubantu abane-GT?

Ukubalwa kweeplatelet kudla ngokuba yinto eqhelekileyo kwiGlanzmann Thrombasthenia (GT).Ingxaki ayikokuba linani lee-platelet. Endaweni yoko, yingxaki ngeproteni enceda ii-platelet ukuba zinamathele, nto leyo ethintela ii-platelet ekubeni zijiye ngokufanelekileyo.

Yintoni umahluko phakathi kweGlanzmann Thrombasthenia (GT) kunye neBernard-Soulier syndrome (BSS)?

I-Glanzmann Thrombasthenia (GT) kunye ne-Bernard-Soulier syndrome (BSS) zombini ziimeko ezingaqhelekanga zemfuza ezichaphazela indlela igazi lakho elijiya ngayo. Kodwa zibangelwa kukutshintsha kwezakhi zofuzo ezahlukeneyo. Iingxaki ezithile ngeeplatelets zakho zegazi nazo zahlukile. Abantu abane-BSS banokuba ne-platelets ephantsi kunye neeplatelets ezinkulu ngokungaqhelekanga.

Izinto ezibalulekileyo ekufuneka sizikhumbule kwizinto esizithethileyo (Umyalezo Wokubuyela Ekhaya)

I-Glanzmann Thrombasthenia (GT) yimeko yobomi bonke ekufuneka wena kunye nogqirha wakho wegazi niyijonge ngokusondeleyo. Nge-GT, akukho ndlela yokuqikelela ukuba ukopha kwakho kuya kuba nzima kangakanani (okanye kuncinci). Nangona kunjalo, ukuthatha amanyathelo okunciphisa ukopha kwakho kunokukunceda uhlale usempilweni. Ukuba i-GT yakho inzima, unyango olufana nokufakwa kweeplatelet nalo lunokunceda.

Nangona ungenakukwazi ukulawula ukuzalwa unesi simo, khumbula ukuba uneendlela onokukhetha kuzo zokusilawula ngendlela engaphazamisi umgangatho wobomi bakho. Ungoyiki ukufuna iingcebiso zonyango kwaye uzinyamekele. Emva koko unokuphila kakuhle nale meko.

I- Glanzmann thrombasthenia, i-GT, ukopha, iiplatelets zegazi, izifo zemfuza, ukukruquka, ingxaki yokopha, iiplatelets