Ngaba umntwana wakho uziva ediniwe ngalo lonke ixesha? Ngaba unamathandabuzo malunga nokukhula kwakhe? Okanye ngaba ngamanye amaxesha kuthatha ixesha nokuba kunqunyulwe kancinci ukuze kumiswe ukopha? Kuqhelekile ukuba umama okanye utata azive esoyika xa ebona izinto ezinje. Namhlanje siza kuthetha ngemeko engaqhelekanga abantu abaninzi abangazange bayive, kodwa kubaluleke kakhulu ukuyazi. Yiyo leyo iFanconi Anemia (FA) . Nangona igama lisenokuvakala lingaqhelekanga, masithethe ngalo ngokulula, ngendlela onokuyiqonda.
Ngamafutshane, yintoni iFanconi anemia (FA)?
I-Fanconi anemia, okanye i-FA ngamafutshane, yimeko engaqhelekanga efunyanwa njengelifa . Ichaphazela kakhulu umongo wakho wethambo . Ngoku usenokuba uzibuza ukuba lo mongo wethambo umalunga nantoni na.
Cinga ngomongo wethambo njengenxalenye efana nesiponji ngaphakathi kwamathambo amakhulu omzimba wethu. Ifana nomzi-mveliso wokwenza igazi emzimbeni wethu. Lo mzi-mveliso wenza iintlobo ezintathu eziphambili zeeseli ezifunekayo emzimbeni wethu:
- Iiseli zegazi ezibomvu: Ziiseli ezithwala ioksijini emzimbeni wonke.
- Iiseli zegazi ezimhlophe: Umkhosi womzimba wethu olwa nezifo neentsholongwane.
- Iiplatelets: Abasebenzi abancinci abayeka ukopha baze bajije igazi xa kukho ukwenzakala.
Ngoku, kumntu one-FA, umongo wamathambo, okanye ifektri, awusebenzi kakuhle. Oku kuthetha ukuba awunakwenza iiseli zegazi ezisempilweni ngokwaneleyo. Oku sikubiza ngokuba kukusilela komongo wamathambo . Oku kunokubangela iingxaki ezininzi emzimbeni. Kwakhona, esi sifo sinokuchaphazela amanye amalungu omzimba kunye nenkangeleko yomzimba.
I-FA iyichaphazela njani umzimba wam okanye womntwana wam?
Indlela i-FA echaphazela ngayo umntu ngamnye inokwahluka, kodwa ngokubanzi, inokuchaphazeleka ngeendlela ezintathu eziphambili.
1. Izinto Ezingaqhelekanga Emzimbeni: Malunga nama-75% abantwana abazalwa bene-FA banohlobo oluthile lweengxaki zomzimba. Ezinye zezi zinto zinokubonakala (umzekelo, utshintsho ezandleni nasezithupheni), ngelixa ezinye zinokubandakanya amalungu angaphakathi.
2. Ukusilela kweBone Marrow: Le meko yenzeka kwizigulane ezimalunga ne- 90% ze-FA. Oku kuthetha ukuba umongo wethambo uyeka kancinci ukuvelisa iiseli zegazi ezisempilweni. Oku kunokukhokelela kwiimeko ze-anemia ezifana ne -aplastic anemia kunye nemeko ebizwa ngokuba yi -myelodysplastic syndrome (MDS) . I-MDS ikwathathwa njenge-pre-leukemia.
3. Umngcipheko Okhulayo Womhlaza:Abantu abane-FA basengozini enkulu yokufumana iintlobo ezithile zomhlaza kunabantu ngokubanzi. Basengozini enkulu yokufumana umhlaza wegazi ofana ne-leukemia kunye nomhlaza wentloko, intamo, kunye nolusu. Phakathi kwe -10% kunye ne-30% yaba bantu baya kuphuhlisa uhlobo oluthile lomhlaza.
Into ebalulekileyo kukuba ayizizo zonke ezi mpawu ezenzekayo kubo bonke abaguli. Abanye abantu banokuba nazo ezininzi zezi mpawu, ngelixa abanye benokuba neempawu ezimbalwa kakhulu.
Ngoko ke ngaba i-FA ngumhlaza?
Le yingxaki abantu abaninzi abanayo. Hayi, i-FA ayingomhlaza. Nangona kunjalo, kuba sisifo semfuza, amandla omzimba okulungisa iiseli ezonakeleyo ayancitshiswa. Ke ngoko, ngokuhamba kwexesha, ezi seli ezonakeleyo zisengozini enkulu yokuba ngumhlaza. Ngamafutshane, i-FA yimeko enokubangela umhlaza, kodwa ayingomhlaza ngokwawo.
Zithini iimpawu zesifo se-FA?
Ngenxa yokuba i-FA ichaphazela abantu abahlukeneyo ngeendlela ezahlukeneyo, iimpawu zinokwahluka kakhulu. Abanye abantu banokuphila iminyaka bengenazo iimpawu ezicacileyo. Masiwahlule la manqaku abe ziindidi ezimbalwa eziphambili.
| 1. Iimpawu ezinxulumene ne-Anemia | |
|---|---|
| Ukuvakalelwa rhoqo kokudinwa kakhulu | Ukuziva udiniwe kangangokuba awukwazi nokwenza imisebenzi eqhelekileyo, kwaye uzive ulele ngalo lonke ixesha. |
| Ulusu olukhanyayo | Ulusu oluphaphathekileyo, imilebe, naphantsi kwamehlo ngenxa yokunqongophala kwegazi emzimbeni. |
| Ubunzima bokuphefumla | Ukuva uphelelwa ngumphefumlo nokuba usenza umthambo omncinci, njengokunyuka izinyuko. |
| Ukubetha kwentliziyo | Ukuziva ngathi intliziyo yakho ibetha ngokukhawuleza kakhulu. |
| Intloko ebuhlungu rhoqo | Intloko ebuhlungu inokubangelwa kukuncipha komthamo weoksijini efunekayo engqondweni. |
| 2. Iimpawu ezinxulumene nokungasebenzi kakuhle komongo wethambo | |
|---|---|
| Ukugula rhoqo | Inani eliphantsi leeseli ezimhlophe zegazi linciphisa amandla omzimba okuzikhusela, nto leyo enokubangela usulelo oluqhelekileyo lweentsholongwane kunye nefungus. |
| Ukopha kunye nokudumba | Ngenxa yokuba iiplatelets ziphantsi, nokuba inxeba elincinci aliyi kuyeka ukopha. Usenokopha ezintsinini nasezimpumlweni. Usenokufumana nemivumbo eluhlaza okwesibhakabhaka emzimbeni wakho. |
| 3. Iimpawu ezinxulumene notshintsho lomzimba | |
|---|---|
| Utshintsho ezandleni nakwiminwe | Ukuma okungaqhelekanga kobhontsi, ukuba nobhontsi ababini esandleni esinye, okanye ukungabi nabhontsi konke konke. |
| Ukulibaziseka kokukhula | Ukungabi nobude okanye ubunzima obufanele ubudala. Ukuba mncinci kunomndilili. |
| Utshintsho kubungakanani bentloko | Intloko encinci ngokungaqhelekanga (i-microcephaly)okanye ukukhula okungaqhelekanga (hydrocephaly) . Oku kunokuchaphazela ukukhula komntwana, intetho yakhe, kunye nokuhamba kwakhe. |
| Amabala esikhumba | Amabala amakhulu, amdaka kancinci eluswini. La abizwa ngokuba ngamabala e-"café-au-lait", abonakala njengamabala afana nekofu enobisi. |
| Ezinye iimpawu | Ukuphazamiseka kokuva, ukumila okungaqhelekanga kweendlebe, ukugoba komqolo (i-scoliosis) , iingxaki ezithile zezintso okanye zentliziyo. |
Kutheni le meko ye-FA isenzeka?
Oku kubangelwa sisiphene kwiijini zethu. Cinga ngeejini njengomzobo wokwakha imizimba yethu. Kukho malunga neejini ezingama-20 ezibandakanyeka kwi-FA. Umsebenzi ophambili wezi jini kukulungisa umonakalo kwi-DNA yethu .
Kubo bonke ubomi bethu, ngenxa yezinto ezikwindawo esikuyo kunye nokutya esikutyayo, i-DNA kwiiseli zomzimba wethu yonakala kancinci. Yinto eqhelekileyo leyo. Iiproteni ezenziwe zii-FA genes zisebenza njengeqela lokulungisa, zilungisa le DNA yonakeleyo.
Nangona kunjalo, ngenxa yokuba umntu one-FA une-mutation kwezi gene, iqela lokulungisa alisebenzi kakuhle. Kuza kwenzeka ntoni emva koko?
- Umonakalo we-DNA uyaqokelelana.
- Oku kubangela ukuba iiseli ziqale ukwahlukana ngendlela engaqhelekanga (enokukhokelela kumhlaza) okanye iiseli zife.
- Umongo wethambo ubuthathaka kwaye kwenzeka utshintsho emzimbeni ngenxa yokufa kweeseli.
Le yinto ezuzwa ngabazali kubantwana. Ukuba bobabini abazali bathwele esi siphene sejini, kukho amathuba angama-25% okuba umntwana wabo abe ne-FA.
Oogqirha bayixilonga njani i-FA?
I-FA idla ngokufunyaniswa ngexesha lonyango okanye uvavanyo lwenye imeko (efana ne-anemia okanye umhlaza). Ugqirha wakho uza kuhlola ngononophelo iimpawu zakho okanye zomntwana wakho aze acebise uvavanyo oluninzi ukuba kukho i-FA ekrokrelwayo.
Uvavanyo oluqhelekileyo:
- Ubalo lweGazi olupheleleyo (CBC): Olu lulinganisa inani leeseli ezibomvu, iiseli ezimhlophe, kunye neeplatelets egazini. Lunokujonga nawaphi na amanqanaba aphantsi ezi zinto.
- I-Bone Marrow Biopsy: Kuthathwa isampulu encinci yomongo wethambo ize ihlolwe phantsi kwemakroskopu ukuze kubonwe indlela iiseli ezakha ngayo kunye neengxaki ezinazo.
- Ii-MRI kunye nee-Ultrasound Scans: Ezi mvavanyo zinceda ekuboneni ukuba kukho naluphi na utshintsho kwizitho zomzimba ngaphakathi emzimbeni (ezifana nezintso kunye nentliziyo).
Uvavanyo oluthile lokuqinisekisa i-FA:
- Uvavanyo Lokwaphuka Kwekhromosome: Olu lolona vavanyo luphambili olusetyenziselwa ukufumanisa i-FA. Kolu vavanyo, kongezwa ikhemikhali kwiiseli kwisampulu yegazi kwaye iikhromosome zijongwa ukuba azinamonakalo okanye azinakonakala. Iikhromosome ezikwiiseli zomntu one-FA zonakala ngokukhawuleza kakhulu kunakwimntu oqhelekileyo.
- Uvavanyo lweMfuzo: Olu vavanyo lunokuchonga isiphene esithile semfuza esibangela i-FA.
Ndingavavanywa ngexesha lokukhulelwa?
Ewe. Ukuba kukho umntu kusapho lwakho one-FA, umntwana wakho unokuvavanywa ukuba unale meko ngexesha lokukhulelwa. Oku kungenziwa ngokusebenzisa iimvavanyo ezifana ne -amniocentesis okanye i-chorionic villus sampling . Ungathetha nogqirha wakho ngale nto ukuze ufumane okungakumbi.
Ziziphi iindlela zonyango ze-FA?
Eyona njongo iphambili yoogqirha xa benyanga i-FA kukulawula iimpawu nokulawula iingxaki.
- Ukufakelwa kweBone Marrow: Olu lolona nyango lunyanga iingxaki zegazi ezibangelwa yi-FA. Kule meko, umongo wethambo wesigulana onesiphako uyatshatyalaliswa kwaye umongo wethambo ovela kumxhasi ophilileyo nofanelekileyo ubuyiselwa kwisigulana.
- Unyango lwe-Androgen: Ezi luhlobo lwehomoni. La mayeza avuselela umongo wethambo ukuze ancede ekwandiseni ukuveliswa kweeseli ezibomvu zegazi kunye neeplatelets.
- Izinto Zokukhula Ezidityanisiweyo: Ezi zinikwa njengeenaliti kwaye zinceda ukwandisa imveliso yeeseli ezimhlophe zegazi kunye neeseli ezibomvu zegazi ezivela kumongo wethambo.
- Utyando: Utyando lunokufuneka ukuze kulungiswe utshintsho emzimbeni (umzekelo, ingxaki yobhontsi omkhulu) okanye ukulungisa amalungu omzimba awonakeleyo.
Eyona nto ibalulekileyo kukuba ugqirha okuhlolayo nguye oza kugqiba ukuba loluphi unyango olulungele wena okanye umntwana wakho. Ngoko ke qiniseka ukuba ulandela imiyalelo kagqirha.
Ukuhlala ne-FA kunye nezinto ekufuneka uziqaphele
I-FA yimeko yobomi bonke ekufuneka ilawulwe, ngoko ke kubalulekile ukuba uhlale ujonga impilo yakho.
- Umngcipheko womhlaza: Ekubeni i-FA inyusa umngcipheko womhlaza, ukutshaya nokusela utywala kufuneka kuthintelwe ngokupheleleyo . Kwakhona, ekubeni umngcipheko womhlaza wolusu uyanda, xa uphuma elangeni.Ufanele ukhusele ulusu lwakho ngokusebenzisa isithambisi sokukhusela ilanga esilungileyo kunye nokunxiba umnqwazi. Qaphela amabala amatsha kunye namaqhuma eluswini lwakho.
- Ukopha: Ziphephe imidlalo kunye nemisebenzi enokubangela ukwenzakala ngenxa yokubala iiplatelets kuncinci. Sebenzisa ibrashi yamazinyo ethambileyo xa uhlamba amazinyo akho. Ukuba ufumana ukopha okanye ukukrweleka, yazisa ugqirha wakho ngoko nangoko.
- Ukuhlolwa rhoqo kwezonyango: Yiya rhoqo kuhlolo njengoko ugqirha wakho ekuyalele. Kubalulekile ukuba kwenziwe uvavanyo lwegazi kunye nokuhlolwa komhlaza ngexesha.
Ngaba kusafuneka ndikhathazeke ngezi zinto emva kokufakelwa umongo wethambo ngempumelelo?
Ewe, ngokuqinisekileyo. Nangona ukufakelwa umongo wethambo kunokunyanga izifo zegazi ezibangelwa yi-FA, isiphene semfuza se-FA sisakhona kwezinye iiseli zomzimba. Ngenxa yoko, umngcipheko wokuba nomhlaza kwiindawo ezifana nentloko, intamo, nolusu usaqhubeka. Ngoko ke, kubaluleke kakhulu ukuba phantsi kweliso likagqirha ubomi bakho bonke nokuba emva kokufakelwa.
Umyalezo Wokuya Ekhaya
- I-Fanconi anemia (FA) ayilomhlaza, kodwa sisifo esingaqhelekanga, esizuzwe njengelifa esongeza umngcipheko womhlaza.
- Esi sifo sichaphazela kakhulu umongo wethambo, sinciphisa ukuveliswa kweeseli zegazi ezisempilweni.
- Iimpawu eziqhelekileyo ziquka ukudinwa rhoqo, ukuba mdaka, ukugula rhoqo, kunye nokopha okanye ukukrweleka lula.
- Ukufakelwa umnkantsha wethambo lolona nyango lulungileyo kwiingxaki ezinxulumene negazi zesi sifo. Kodwa nasemva kokufakelwa umnkantsha, ukubekwa esweni kwezonyango ubomi bonke kubalulekile ngenxa yomngcipheko womhlaza.
- Ukuba wena okanye umntwana wakho unezi mpawu okanye unembali yosapho, musani ukoyika nize nidibane nogqirha ngokukhawuleza ukuze nifumane icebiso.
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