Ingabe futhi wopha kakhulu enxebeni elincane? Ake sixoxe nge-Bernard-Soulier Syndrome (BSS)!

Wake waphawula ukuthi abanye abantu baphuma igazi eliningi ngisho noma beklwebhekile noma bedumbe nje, noma ukuthi imihuzuko ilula futhi ithatha isikhathi eside ukuphola? Ngezinye izikhathi lokhu kungaba ngenxa yesimo esingakazwa kakhulu ngaso, kodwa okubaluleke kakhulu ukusazi. Esinye sezimo ezinjalo yi-Bernard-Soulier Syndrome, noma ``(BSS)`` ngamafuphi. Ake sixoxe ngalokhu ngemininingwane ethe xaxa namuhla.

Iyini i-Bernard-Soulier Syndrome (BSS)?

Kalula nje, i-Bernard-Soulier Syndrome `(BSS)` iyisimo esingavamile kakhulu. Okwenzekayo kulokhu ukuthi inqubo yokujiya kwegazi emzimbeni wethu, okusho ukuthi ukuphuma kwegazi kuyayeka lapho silimala, iyaphazamiseka. Cabanga nje, unesilonda esincane esandleni sakho. Ngemva kwesikhashana, ukuphuma kwegazi kuyayeka, akunjalo? Nokho, okusiza ngalokho ama-platelet, uhlobo lweseli elincane egazini lethu, kanye ne-plasma, okuyingxenye yegazi ewuketshezi.

Umuntu one-Bernard-Soulier Syndrome (BSS) unama-platelet ambalwa kunejwayelekile. Odokotela babiza lesi simo ngokuthi i-thrombocytopenia. Futhi, ama-platelet akhona makhulu kune-platelet ajwayelekile. Ngakho-ke, ngenxa yalezi zizathu, abantu abane-BSS baphuma igazi futhi baphuke kalula.

Kungavamile kangakanani lesi simo?

Empeleni lesi yisimo esingavamile kakhulu. Ngokusho kochwepheshe bezokwelapha, lesi simo sithinta umuntu oyedwa kuphela kwabayisigidi emhlabeni jikelele. Lokhu kusho ukuthi ngisho naseSri Lanka, bambalwa kakhulu abantu abaphethwe yilesi sifo.

Ziyini izimpawu ze-Bernard-Soulier Syndrome (BSS)?

Ngokuvamile, izingane ezine-BSS ziqala ukukhombisa lezi zimpawu zisencane. Hlola ukuthi wena noma othile omaziyo unazo yini lezi zimpawu:

• Uphuka kalula, futhi kuthatha isikhathi eside ukuphola: Ngisho neqhubu elincane esihlalweni lingashiya iqhubu elikhulu. Kungathatha amasonto ukuthi iqhubu liphole.
• Ukopha kakhulu ngisho noma kubangelwa amanxeba amancane: Kungakhathaliseki ukuthi uthola ukusikeka okuncane ngenkathi ushefa noma usika isandla sakho ngommese ngenkathi usika imifino, kunzima ukuvimba ukopha.
• Ukopha impumulo okuvamile: Abanye abantu bakubiza lokhu ngokuthi `(epistaxis)`. Uma ukopha impumulo okuvamile ngaphandle kwesizathu, lokho nakho kuyimpawu.
• Ukopha ngaphansi kwesikhumba: Lokhu kubonakala njengamachashazi amancane abomvu noma ansomi ebusweni besikhumba. Odokotela babiza lawa ngokuthi "ama-petechiae".
• Ukopha kakhulu ngesikhathi sokuya esikhathini kwabesifazane: Uma ukopha kuthatha izinsuku eziningana isikhathi eside kunokujwayelekile, noma uma kukhulu (i-menorrhagia), lokho nakho kuyindaba yokukhathazeka.

Ungesabi i-BSS ngoba nje unesinye noma ezimbili zalezi zimpawu. Kodwa uma lezi zimpawu ziqhubeka, kungcono ukufuna iseluleko sezokwelapha.

Yini ebangela i-Bernard-Soulier Syndrome (BSS)?

Leli yiphuzu elibaluleke kakhulu. `(BSS)` yisifo esibangelwa izakhi zofuzo.Okusho ukuthi, isimo esenzeka lapho sizalwa ngenxa yoshintsho (ukuguquka) kwezakhi zofuzo zethu. Lokhu kuyifa , okusho ukuthi izingane zingazuza lolu shintsho lwezakhi zofuzo kubazali bazo.

Lesi simo (BSS) sibangelwa izinguquko ezakhiweni zezakhi zofuzo `GP1BA`, `GP1BB` noma `GP9` ikakhulukazi. Zonke lezi zakhi zofuzo zibaluleke kakhulu enqubweni yokujiya kwegazi emzimbeni wethu. Ngakho-ke uma kunenkinga ngalezi zakhi zofuzo, ukujiya kwegazi akwenzeki kahle.

Wazi kanjani ukuthi une-Bernard-Soulier Syndrome (BSS)?

Uma unalezi zimpawu, into yokuqala udokotela angayenza uma uzibona ukukubuza umbuzo onemininingwane. Ngemuva kwalokho, bazokuyala ukuhlolwa kwegazi okuningana ukuqinisekisa isimo.

• Ukuhlolwa kokubalwa kwamaplatelet: Lokhu kuhlola inani lamaplatelet egazini lakho nokuthi aphansi yini.
• Ukuhlolwa kokuguquka kwezakhi zofuzo: Lokhu kungabona ukuthi kukhona yini ukuguqulwa kwezakhi zofuzo ezibalwe ngaphambilini ze-`GP1BA`, `GP1BB`, `GP9` ezibangela `(BSS)`.
• Ukuhlolwa kwama-platelet nge-microscopic: Kuthathwa isampula yegazi lakho bese kuhlolwa ngaphansi kwe-microscope ukuze kubonakale ukuthi ama-platelet makhulu ngendlela engavamile yini.
• I-cytometry yokugeleza kwamaplatelet: Nakuba inegama eliyinkimbinkimbi, lokhu kuhlolwa kulinganisa inani lama-glycoprotein abizwa ngokuthi `GP1BA`, `GP1BB`, `GP9` ebusweni bamaplatelet. Uma lawa ephansi, kuwuphawu lwe-`(BSS)`.

Kusekelwe emiphumeleni yalezi zivivinyo ukuthi udokotela uzokutshela ngqo ukuthi une-BSS noma cha.

Yiziphi izindlela zokwelapha i-Bernard-Soulier Syndrome (BSS)?

Okwamanje akukho ukwelashwa kwe-BSS, njengoba kuyisimo sofuzo. Kodwa-ke, kunezinto eziningi ongazenza ukuze uvimbele ukopha ngokweqile nokunciphisa ezinye izinkinga ezingase zivele. Ukwelashwa kugxile kakhulu kulokho.

Izinto ongazenza ukuze unciphise ukopha:

Lezi izinto ezilula, kodwa ezibaluleke kakhulu ongazengeza empilweni yakho yansuku zonke.

• Gwema imithi ekhulisa ingozi yokopha: Eminye imithi yokubulala izinhlungu, njengemithi engeyona eye-steroidal anti-inflammatory (NSAIDs), i-aspirin, kanye neminye imithi yokubulala izinhlungu ingandisa ingozi yokopha. Ngakho-ke, ungayithathi le mithi ngaphandle kokubonisana nodokotela.
• Sebenzisa ibhulashi lamazinyo elithambile uma uxubha amazinyo akho: Lokhu kunganciphisa ukuphuma kwegazi ezinsinini.
• Funda indlela efanele yokuvimba ukopha ekhaleni: buza udokotela wakho ukuthi ungalibamba kanjani ikhala lakho nokuthi ungalibamba kanjani ikhanda lakho.
• Nciphisa ukudla neziphuzo ezithile: Ukudla okunotshwala obuningi kanye noshukela ocolisisiwe kungathinta inani lama-platelet akho, ngakho-ke kungcono ukukunciphisa ngangokunokwenzeka.
• Bhalisa esikhungweni esihlinzeka ngokunakekelwa okuphuthumayo amahora angama-24: Lokhu kuzokusiza ukuthi uthole ukwelashwa ngokushesha esimweni esiphuthumayo, njengokuphuma kwegazi okukhulu.
• Thatha izithasiselo zensimbi uma unesifo sokuntuleka kwensimbi: Ukopha njalo kungaholela ekuntuleni insimbi. Thatha amaphilisi ensimbi njengoba kuqondiswe udokotela wakho.
• Gqoka isongo noma ithegi yokuhlonza udokotela: Kubaluleke kakhulu esimweni esiphuthumayo ukugqoka isongo noma ithegi echaza ngokucacile ukuthi une-`(BSS)`.

Ukwelashwa kwezokwelapha:

Kwezinye izimo, ikakhulukazi ezimweni zokopha okungazelelwe noma lapho kulungiselelwa ukuhlinzwa, odokotela bangase banikeze ukwelashwa okufana nalokhu:

• Ukumpontshelwa Ama-Platelet: Lokhu ngokuvamile kuyindlela yokuqala yokwelapha isimo esiphuthumayo sokuphuma kwegazi. Ama-Platelet avela kumnikeli anikezwa emzimbeni wakho ngomugqa we-IV. Lawa ma-platelet asiza ukujiya kwegazi lakho.
• Ukwelashwa kwe-antifibrinolytic: Lena imithi esiza ukujiya kwegazi. Isibonelo, i-tranexamic acid, okungenzeka ukuthi wake wezwa ngayo, iyatholakala ngaphansi kwegama lomkhiqizo elithi ``Cyklokapron®''. Lokhu kusiza ukulawula ukopha kwegazi.

Ingabe i-Bernard-Soulier Syndrome (BSS) ingavinjelwa?

Ngeshwa, ayikho indlela yokuvimbela i-BSS ukuthi ikhule ngoba iyisimo sofuzo.

Kodwa-ke, uma othile emndenini wakho ene-BSS, noma uma ucabanga ukuthi ungaba nalolu shintsho lwezakhi zofuzo, ungase uthande ukucabangela ukuhlolwa kwezakhi zofuzo . Kubalulekile futhi ukufuna ukwelulekwa kwezakhi zofuzo . Umeluleki wezakhi zofuzo angakutshela okwengeziwe ngalesi simo futhi achaze ingozi yokusidlulisela ezinganeni zakho.

Yiziphi ezinye izinto okufanele uziqaphele uma uphila ne-Bernard-Soulier Syndrome (BSS)?

Iningi labantu abane-BSS lingaphila impilo ejwayelekile, kodwa kudingeka baqaphele kakhudlwana ukuze banciphise ingozi yokulimala.

Isibonelo, kungcono ukugwema imidlalo yokuthintana, njengoba inengozi enkulu yokulimala nokopha okukhulu.

Kubalulekile futhi ukubona umhlinzeki wakho wokunakekelwa okuyinhloko njalo ukuze ulondoloze impilo yakho iyonke. Uma uhlinzwa, kungadingeka ukuthi uhlele kusenesikhathi futhi mhlawumbe ufakwe ama-platelet ngaphambi kwenqubo.

Uma une-Bernard-Soulier Syndrome (BSS), yimiphi imibuzo okufanele uyibuze udokotela wakho?

Uma ucabanga ukuthi unayo (BSS) noma uke watholakala unayo, kungaba usizo kakhulu ukubuza udokotela wakho imibuzo efana nale:

• Yiziphi izimpawu zokuqala ze-Bernard-Soulier Syndrome?
• Yiziphi izivivinyo okufanele ngizenze ukuze ngithole ukuthi nginayo yini i-Bernard-Soulier Syndrome?
• Yiziphi izindlela zokwelapha i-Bernard-Soulier Syndrome?
• Uma ngine-Bernard-Soulier Syndrome, yini engingayenza ukuze ngivimbele ukopha ngokweqile?
• Yimiphi imisebenzi okungafanele ngiyenze ngoba ngine-Bernard-Soulier Syndrome?
• Angakanani amathuba okuba izingane zami zizuze i-Bernard-Soulier Syndrome kimi?

Ngaphezu kwale mibuzo, ungesabi ukukhuluma nodokotela nganoma yini efika engqondweni yakho.

Ingabe ukuba ne-Bernard-Soulier Syndrome (BSS) ngesikhathi sokukhulelwa kuyingozi enganeni?

Uma ukhulelwe futhi une-BSS, uzodinga ukunakekelwa kwezokwelapha okukhethekile (ukunakekelwa kokubeletha okuyingozi kakhulu kanye ne-hematology) . Inani lama-platelet akho kanye nempilo yakho iyonke kuzodingeka kuqashwe njalo. Ngesikhathi sokubeletha, ungase ungakwazi ukwenza izinhlobo ezithile ze-anesthesia ezandisa ingozi yokopha.

Ngisho nangemva kokuzalwa kwengane, inani lama-platelet engane kufanele lihlolwe njalo. Ngoba kunethuba lokuthi ingane yakho ingase ithole i-genetic mutation ebangela ``(BSS)'' kuwe. Ngakho-ke, kubalulekile ukukhuluma nodokotela wakho ngalokhu bese uthatha izinyathelo ezidingekayo.

Iyini inkinga enkulu ebangelwa yiBernard-Soulier Syndrome (BSS)?

Ngamafuphi, inkinga enkulu ebangelwa yi-"BSS" ukungakwazi kwegazi ukujiya . Yingakho ukuphuma kwegazi ngokweqile kanye nokulunywa kalula kuyizimpawu ezivame kakhulu.

Yiziphi ezinye izimo ezibangela izimpawu ezifana neBernard-Soulier Syndrome (BSS)?

Kunezinye izimo eziningana ezibangela izinkinga zokopha kanye nezimpawu ezifana ne-BSS. Kuhle ukuzazi ngamagama kuphela:

• `I-Hemophilia`
• `I-May-Hegglin anomaly`
• `Isifo sechibi lokugcina izinto`
• `I-Glanzmann thrombosthenia`
• `Isifo sikaVon Willebrand`

Ngokusekelwe ezimpawini zakho, udokotela kuphela onganquma ukuthi yisiphi kulezi zifo.

Amazwi ethu okugcina

I-Bernard-Soulier Syndrome `(BSS)` iyisimo esingavamile kakhulu esizuzwa kubazali bakho. Uma unalesi simo, ungase ube nezinkinga ezithile ngokujiya kwegazi. Kodwa-ke, akusho ukuthi awukwazi ukuphila impilo evamile. Into ebaluleke kakhulu ukugwema izimo eziyingozi ezingaholela ekulimaleni futhi ulandele njalo iseluleko sikadokotela wakho.

Bona udokotela womndeni wakho njalo. Angaphendula imibuzo yakho, akusize uphathe lesi simo, futhi asebenzisane nawe ukuze ulondoloze impilo yakho iyonke. Ungesabi, ukuqaphela nokunakekela kungamandla ethu amakhulu lapho siphila nalezi zimo.

I- Bernard-Soulier Syndrome, i-BSS, ukujiya kwegazi, ama-platelet, ukopha ngokweqile, izifo zofuzo, ukuminyana