Ngaba umntwana wakho uziva ediniwe kwaye ediniwe ngalo lonke ixesha? Ngaba ubonakala ephaphathekile? Okanye ngaba kukho naluphi na utshintsho emzimbeni olukhoyo ukususela ekuzalweni? Mhlawumbi unobangela wezi zinto yimeko engaqhelekanga ebizwa ngokuba yiFanconi Anemia. Musa ukoyika xa usiva eli gama, kuba yimeko abantu abaninzi abangazange bayive, iyinkimbinkimbi kancinci, kwaye inqabile kakhulu. Ngoko ke namhlanje siza kuthetha ngale nto, ukuba yintoni, zithini iimpawu, kwaye ngaba kukho unyango, konke oku ngendlela elula kakhulu onokuyiqonda.
Kulungile, masiqale sibone ukuba yintoni iFanconi anemia (FA)?
Ngamafutshane, iFanconi Anemia (FA) yimeko engaqhelekanga yemfuza echaphazela ikakhulu umongo wethambo emizimbeni yethu.
Ngoku usenokuba uyazibuza ukuba yintoni le thambo lomongo. Siyibiza ngokuba yindawo ethambileyo nethambileyo ngaphakathi kwamathambo amakhulu omzimba wethu. Ifana nomzi-mveliso wegazi emzimbeni wethu. Iintlobo ezintathu eziphambili zeeseli zegazi ezifunekayo emzimbeni wethu , iiseli ezibomvu zegazi, iiseli ezimhlophe zegazi, kunye neeplatelets, ziveliswa kule thambo lomongo.
Nangona kunjalo, umongo wethambo lomntu one-FA awukwazi ukwenza ezi seli zegazi ngokufanelekileyo. Kufana nokuphazamiseka kwemveliso yefektri. Ngenxa yoko, iiseli zegazi ezisempilweni aziveliswanga ngobuninzi obaneleyo. Le meko inokubangela iingxaki ezahlukeneyo zempilo. Kwakhona, i-FA ayinakuchaphazela kuphela umongo wethambo, kodwa nezinye iindawo ezininzi zomzimba.
I-FA iyichaphazela njani umzimba?
Indlela le meko echaphazela ngayo umntu ngamnye inokwahluka, kodwa ngokubanzi, kukho iziphumo eziphambili ezininzi.
- Iziphene zomzimba: Malunga nama -75% abantwana abazalwa bene-FA, okanye abathathu kwabane, banohlobo oluthile lweziphene zomzimba. Oku kunokuchaphazela zombini inkangeleko kunye namalungu omzimba angaphakathi.
- Ukusilela kweBone Marrow: Malunga nama -90% abantu abane-FA banesifo sokungasebenzi kakuhle kweBone Marrow. Oku kuthetha ukuba iBone Marrow ayikwazi ukwenza iiseli zegazi ezisempilweni ngokwaneleyo. Oku kunokukhokelela kwezinye iingxaki zegazi, ezifana ne -aplastic anemia kunye ne-myelodysplastic syndrome (MDS) . I-MDS ithathwa njenge-pre-leukemia.
- Umngcipheko okhulayo womhlaza: Phakathi kwe -10% kunye ne-30% yabantu abane-FA banomngcipheko okhulayo wokufumana iintlobo ezithile zomhlaza, njenge-leukemia. Ezi cancer zinokwenzeka nakubantu abancinci kunomntu oqhelekileyo.
Kodwa ungoyiki xa usiva ezi zinto. Namhlanje, ngesayensi yezonyango ephucukileyo, ingakumbi unyango olufana nokufakelwa komongo wamathambo, abantu abane-FA banethuba lokuphila ubomi obusempilweni nobude.
Ngaba i-Fanconi anemia ngumhlaza?
Lo ngumbuzo abantu abaninzi abanawo. Impendulo elula yile, hayi . I-FA ayisosifo somhlaza. Sisifo semfuza.
Nangona kunjalo, ngenxa yokuba amandla omzimba okulungisa iiseli ezonakeleyo ephazamisekile kubantu abane-FA, basengozini enkulu yokuba nomhlaza kunabanye. Ngokukodwa, banamathuba amaninzi okufumana umhlaza ofana ne- acute myeloid leukemia , umhlaza wolusu, kunye nomhlaza wentloko nentamo.
Zithini iimpawu zesi sifo?
Iimpawu ze-FA zahlukile kakhulu. Abanye abantu baneempawu ezibonakalayo xa bezalwa, ngelixa abanye besenokungabi nazo naziphi na iimpawu kangangeminyaka. Masiwahlule la mpawu abe ngamaqela aliqela.
1. Iimpawu ze-Anemia
Ezi mpawu zibonakala xa iiseli ezibomvu zegazi zomzimba zincipha.
- Ukudinwa rhoqo: Ukuziva udiniwe kwaye udiniwe kangangokuba awukwazi nokwenza imisebenzi eqhelekileyo.
- Ulusu oluphaphathekileyo: Ulusu lubonakala luphaphathekile ngenxa yokunqongophala kwegazi emzimbeni.
- Ukuphefumla kancinci: Ukuva uphelelwa ngumphefumlo nokuba sele uhambe kancinci.
- Ukuziva ngathi intliziyo yakho ibetha ngokukhawuleza.
- Intloko ebuhlungu rhoqo.
2. Iimpawu zokungasebenzi kakuhle kweBone Marrow
Oku kubangela iimpawu ezibangelwa kukuncipha kweeseli ezibomvu zegazi, iiseli ezimhlophe zegazi, kunye neeplatelets.
- Usulelo oluqhelekileyo: Ngenxa yokuba iiseli ezimhlophe zegazi azikho sempilweni, inkqubo yomzimba yokuzikhusela iba buthathaka, nto leyo ekhokelela ekubeni usulelo oluqhelekileyo lweentsholongwane kunye nefungus luvele.
- Ukopha okulula: Inani eliphantsi leeplatelet lithintela ukujiya kwegazi. Oku kunokukhokelela ekuphumeni kwegazi kwiintsini nasempumlweni, ukukrweleka nokudumba, kunye nokopha okungayekiyo nokuba kukwenzakala okuncinci.
3. Iimpawu zomhlaza ezinokunxulunyaniswa ne-FA
- I-MDS kunye ne-AML: Ezi meko zinokubangela ukudinwa okukhulu, ukopha nokukrweleka lula, ukuphaphatheka, ubunzima bokuphefumla, kunye nosulelo oluqatha.
- I-Squamous cell carcinoma: Amaqhuma arhabaxa okanye izilonda ezingapholiyo eluswini.
4. Iimpawu ezinxulumene notshintsho lomzimba
Ezi mpawu zihlala zibonakala xa umntu ezalwa. Asinguye wonke umntu onazo zonke ezi mpawu, kodwa basenokuba nazo ezinye okanye ezingaphezulu.
| Umahluko obonakalayo/obonakalayo | Ingcaciso elula |
|---|---|
| Utshintsho ezandleni nasezithupheni | Iibhontsi ezimile ngendlela engaqhelekanga, ezineebhontsi ezimbini esandleni esinye, okanye ezingenazo kwaphela. |
| Incinci kunentloko eqhelekileyo (iMicrocephaly) | Aba bantwana banokulibaziseka ekufundeni izinto ezifana nokuthetha, ukuma, nokuhamba. |
| I-Hydrocephalus | Oku kunokubangela iingxaki ngokulinganisela, umbono, kunye nokufunda. |
| Ukuphazamiseka kokuva | Ubunzima bokuva ngenxa yokuma okungaqhelekanga okanye okuncinci kweendlebe. |
| Utshintsho kumbala wolusu | Amabala amdaka ngokukhanya (amabala e-café-au-lait) okanye amabala amakhulu eluswini. |
| I-Scoliosis | Ukubona ukugoba okungaqhelekanga komqolo. |
| Ukulibaziseka kokukhula | Ukuba mde kwaye unzima kunontanga yakho. |
Kutheni oku kusenzeka? Yintoni unobangela?
Isizathu soku sisiphene kwiijini zethu. Cinga ngemizimba yethu njengesakhiwo esakhiwe ngokwesicwangciso esintsonkothileyo. Eso sicwangciso ziijini zethu. Kukho malunga nama-20 eejini ezinxulumene ne-FA. Umsebenzi ophambili wezi jini kukukhusela nokulungisa iiseli zomzimba wethu, ingakumbi i-DNA, kumonakalo wemihla ngemihla.
Umntu one-FA unenguqu kwezi jini. Ngenxa yoko, inkqubo yokulungisa umonakalo ayenzeki kakuhle.
- Ngenxa yale ntoEminye imiphumo emibi kwi-DNA iyaqokelelana kwaye iiseli ziqala ukwahlukana ngendlela engaqhelekanga okanye zife.
- Utshintsho olubonakalayo kunye nokwehla kwenani leeseli zegazi kwenzeka xa iiseli zisifa ngendlela engaqhelekanga.
- Umhlaza ofana ne-leukemia uvela xa iiseli ziqala ukukhula ngendlela engaqhelekanga.
Le yinto ezuzwa ngabazali kubantwana. Abazali ababini abane-gene enesiphene banethuba elingama-25% (umnye kwabane) lokuba nomntwana one-FA.
Oogqirha bayixilonga njani le sifo?
Amaxesha amaninzi, i-FA irhanelwa xa kuhlolwa ezinye iimpawu (umzekelo, i-anemia, usulelo oluqhelekileyo), endaweni yokuba zifunyaniswe ngokuthe ngqo. Kulapho ke kuphela apho kwenziwa khona uvavanyo oluthile lwale meko.
Nazi ezinye zeemvavanyo ezenziwa rhoqo:
| Uvavanyo | Ubona ntoni apha? |
|---|---|
| Inani elipheleleyo legazi (i-CBC) | Inani leeseli ezibomvu, iiseli ezimhlophe, kunye neeplatelets egazini kunye nempilo yazo iyajongwa. |
| I-Bone Marrow Biopsy | Kuthathwa isampuli encinci yomongo wethambo kwaye iiseli ziyahlolwa ukuze kufunyanwe isifo. |
| Ii-MRI kunye nee-Ultrasound Scans | Ezi zisetyenziselwa ukujonga utshintsho kwizitho zangaphakathi zomzimba. |
Kukwakho novavanyo olukhethekileyo lwemfuza olusetyenziswa ukuqinisekisa esi sifo:
- Uvavanyo Lokwaphuka Kwekhromosome: Olu lolona vavanyo luphambili lokufumanisa i-FA. Kolu vavanyo, kongezwa ikhemikhali kwiiseli zegazi kwaye iikhromosome ezikwezo seli zilinganiswa ukuze kubonwe ukuba kulula kangakanani ukuphuka. Iikhromosome ezikwiiseli zomntu one-FA ziqhekeka kakhulu kunakwindoda eqhelekileyo.
- Uvavanyo lweMfuzo: Olu vavanyo lwenziwa ukuze kuchongwe isiphene esithile semfuza esibangela i-FA.
Ndingafumanisa ukuba umntwana wam unale meko ngexesha lokukhulelwa?
Ewe. Ukuba kukho imbali yosapho ene-FA, umntwana wakho unokuvavanywa esi sifo ngexesha lokukhulelwa. Oku kungenziwa ngokusebenzisa iimvavanyo ezifana ne -amniocentesis okanye i-chorionic villus sampling . Ungathetha nogqirha wakho ngale nto uze ufumane okungakumbi.
Zithini iindlela zonyango zoku?
Akukho nyango lwe-FA okwangoku. Nangona kunjalo, kukho unyango olusebenzayo lokulawula iimpawu kunye neengxaki ezivela kuyo. Isicwangciso sonyango simiselwa bubudala besigulana, uhlobo lweempawu, kunye nempilo yaso iyonke.
| Indlela yonyango | Kwenzeka ntoni koku? |
|---|---|
| Ukufakelwa kweBone Marrow | Olu lolona nyango lubalaseleyo kwiingxaki ezinxulumene negazi ezibangelwa yi-FA. Kule meko, kufakelwa iiseli ze-bone marrow ezivela kumntu ophilileyo ukuze zithathe indawo ye-bone marrow enesifo. |
| Unyango lwe-Androgen | Olu hlobo lwe-hormone luvuselela ukuveliswa kweeseli ezibomvu zegazi kunye neeplatelets emzimbeni. |
| Izinto Zokukhula Ezidibeneyo | Ezi zinikwa njengeenaliti kwaye zinceda umongo wethambo ukuba wenze iiseli zegazi ezimhlophe nezibomvu ezingaphezulu. |
| Utyando | Utyando lungasetyenziswa ukulungisa iingxaki zomzimba ezikhoyo ekuzalweni (umz., ingxaki yobhontsi omkhulu). |
Izinto ekufuneka uzazi malunga nokuhlala ne-FA
Umntu one-FA okanye umzali womntwana onale ngxaki kufuneka ahlale ephaphile.
- Umngcipheko womhlaza:Abantu abane-FA basengozini enkulu yokufumana umhlaza njengecuba, ngoko ke ukutshaya kunye nokuchanabeka kumsi osetyenziswa ngabanye abantu kufuneka kuthintelwe ngokupheleleyo .
- Ukukhusela ulusu lwakho: Ngenxa yomngcipheko omkhulu womhlaza wolusu, kubaluleke kakhulu ukugquma ulusu lwakho kakuhle nokusebenzisa i-sunscreen xa uphuma elangeni.
- Lumka xa usenzakala: Ngenxa yokwanda komngcipheko wokopha, kufuneka ulumke kakhulu xa usenza imisebenzi enokubangela ukwenzakala.
- Ukuhlolwa rhoqo kwezonyango: Nokuba emva kokufakelwa umongo wethambo ngempumelelo, umngcipheko womhlaza uhlala ukhona, ngoko ke kubalulekile ukuba nokuhlolwa rhoqo kwezonyango kunye nokulandelela ubomi bakho bonke. Qaphela naluphi na utshintsho emzimbeni wakho (ukugruzuka okungaqhelekanga, ukopha, ukudinwa) kwaye wazise ugqirha wakho ngoko nangoko ukuba ubona naluphi na utshintsho.
Ukuphila nale meko kunokuba nzima, kodwa iqela lakho lezonyango liya kukunika ulwalathiso kunye nenkxaso oyifunayo. Ngoko ke ungoyiki ukuthetha nogqirha wakho ngayo nayiphi na into exhalabisayo onokuba unayo.
Umyalezo Wokuya Ekhaya
- I-Fanconi anemia (FA) sisifo esingaqhelekanga semfuza esichaphazela kakhulu umongo wethambo.
- Oku kunokukhokelela ekuphuhlisweni kwemveliso yeeseli zegazi, utshintsho emzimbeni, kunye nomngcipheko ophezulu womhlaza.
- Lumka ngeempawu ezinje ngokudinwa rhoqo, ukuba mdaka, ukopha kancinci, kunye nosulelo oluqhelekileyo.
- Esi sifo sinokuchongwa ngokuchanekileyo ngokusebenzisa uvavanyo olukhethekileyo lwegazi kunye nolwemfuza.
- Nangona unyango olufana nokufakelwa umongo lunokulawula ngempumelelo iingxaki ezinxulumene negazi zesifo, ukujonga impilo yonke kubalulekile.
- Ukuba wena okanye umntwana wakho unale meko, awuwedwa. Ukusebenzisana ngokusondeleyo neqela lakho lezonyango kunokukunceda woyise le ngxaki.
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