Ingabe ingane yakho izizwa ikhathele ngaso sonke isikhathi? Ingabe unakho ukungabaza ngokukhula kwayo? Noma ingabe ngezinye izikhathi kuthatha isikhathi ngisho nokusikeka okuncane ukuyeka ukopha? Kuvamile ukuthi umama noma ubaba azizwe esaba uma ebona izinto ezinjengalezi. Namuhla sizokhuluma ngesimo esingavamile abantu abaningi abangakaze bezwe ngaso, kodwa kubaluleke kakhulu ukwazi ngaso. Leso yi -Fanconi Anemia (FA) . Nakuba igama lingase lizwakale lingavamile, ake sixoxe ngalo kalula, ngendlela ongayiqonda.
Kalula nje, iyini i-Fanconi anemia (FA)?
I-Fanconi anemia, noma i-FA ngamafuphi, yisimo esingavamile esizuzwa njengefa . Sithinta kakhulu umongo wakho wamathambo . Manje ungase uzibuze ukuthi lo mongo umayelana nani.
Cabanga ngomnkantsha njengengxenye efana nesiponji ngaphakathi kwamathambo amakhulu emizimba yethu. Kufana nefektri yomzimba wethu yokwenza igazi. Le fektri yenza izinhlobo ezintathu eziyinhloko zamaseli umzimba wethu ozidingayo:
- Amangqamuzana egazi abomvu: Izisebenzi ezithwala umoya-mpilo emzimbeni wonke.
- Amangqamuzana amhlophe egazi: Ibutho lemizimba yethu elilwa nezifo namagciwane.
- Ama-Platelet: Izisebenzi ezincane eziyeka ukopha futhi zijije igazi uma kukhona ukulimala.
Manje, kumuntu one-FA, umongo wamathambo, ifektri, awusebenzi kahle. Lokhu kusho ukuthi awukwazi ukwenza amangqamuzana egazi anempilo anele. Lokhu sikubiza ngokuthi ukwehluleka komongo wamathambo . Lokhu kungabangela izinkinga eziningi emzimbeni. Futhi, lesi sifo singathinta ezinye izingxenye zomzimba kanye nokubukeka komzimba.
I-FA ithinta kanjani umzimba wami noma wengane yami?
Indlela i-FA ethinta ngayo umuntu ngamunye ingahluka, kodwa ngokuvamile, ingathinteka ngezindlela ezintathu eziyinhloko.
1. Ukukhubazeka Okungokomzimba: Cishe ama-75% ezingane ezizalwa zine-FA zinokukhubazeka okuthile ngokomzimba. Ezinye zalezi zingase zibonakale (isibonelo, izinguquko ezandleni nasezithupheni), kanti ezinye zingase zihilele izitho zangaphakathi.
2. Ukwehluleka Kwe-Bone Marrow: Lesi simo senzeka cishe ku- 90% weziguli ze-FA. Lokhu kusho ukuthi i-bone marrow iyayeka kancane kancane ukukhiqiza amangqamuzana egazi anempilo. Lokhu kungaholela ezimweni ze-anemia njenge- aplastic anemia kanye nesimo esibizwa ngokuthi i-myelodysplastic syndrome (MDS) . I-MDS ibhekwa futhi njenge-pre-leukemia.
3. Ingozi Ekhulayo Yomdlavuza:Abantu abane-FA basengozini enkulu yokuthola izinhlobo ezithile zomdlavuza kunabantu abaningi. Basengozini enkulu yokuthola umdlavuza wegazi njenge-leukemia kanye nomdlavuza wekhanda, intamo kanye nesikhumba. Phakathi kuka -10% no-30% walaba bantu bazothola uhlobo oluthile lomdlavuza.
Into ebalulekile ukuthi akuzona zonke lezi zimpawu ezenzeka kubo bonke abaguli. Abanye abantu bangase babe neziningi zalezi zimpawu, kanti abanye bangase babe nezimpawu ezimbalwa kakhulu.
Ngakho-ke ingabe i-FA ingumdlavuza?
Lena inkinga abantu abaningi abanayo. Cha, i-FA ayiyona umdlavuza. Kodwa-ke, ngoba iyisifo sofuzo, ikhono lomzimba lokulungisa amangqamuzana alimele liyancishiswa. Ngakho-ke, ngokuhamba kwesikhathi, lawa maseli alimele asengozini enkulu yokuba nomdlavuza. Kalula nje, i-FA yisimo esingavula indlela yomdlavuza, kodwa akuyona umdlavuza ngokwawo.
Ziyini izimpawu zesifo se-FA?
Ngenxa yokuthi i-FA ithinta abantu abahlukene ngendlela ehlukile, izimpawu zingahluka kakhulu. Abanye abantu bangahlala iminyaka bengenazo izimpawu ezisobala. Ake sihlukanise lezi zimpawu zibe yizigaba ezimbalwa eziyinhloko.
| 1. Izimpawu ezihambisana ne-Anemia | |
|---|---|
| Ukuzizwa njalo kokukhathala okukhulu | Ukuzizwa ukhathele kangangokuthi awukwazi ngisho nokwenza imisebenzi evamile, futhi uzizwa ulele ngaso sonke isikhathi. |
| Isikhumba esikhanyayo | Isikhumba esimpunga, izindebe, kanye nangaphansi kwamehlo ngenxa yokuntuleka kwegazi emzimbeni. |
| Ubunzima bokuphefumula | Ukuzizwa uphelelwa umoya ngisho noma uzikhandla kancane, njengokukhwela izitebhisi. |
| Ukushaya kwenhliziyo | Ukuzizwa sengathi inhliziyo yakho ishaya ngokushesha okukhulu. |
| Ubuhlungu bekhanda obuvamile | Ikhanda elibuhlungu lingabangelwa ukwehla kwenani lomoya-mpilo odingwa ubuchopho. |
| 2. Izimpawu ezihambisana nokwehluleka komongo wethambo | |
|---|---|
| Ukugula okuvamile | Inani eliphansi lamaseli amhlophe egazi linciphisa amasosha omzimba, okungaholela ekuthelelekeni njalo ngamagciwane kanye nesikhunta. |
| Ukopha kanye nokudumba | Ngenxa yama-platelet aphansi, ngisho nesilonda esincane ngeke siyeke ukopha. Ungase wophe ezinsinini nasemakhaleni. Ungase uveze ngisho nemivimbo eluhlaza okwesibhakabhaka emzimbeni wakho. |
| 3. Izici ezihlobene nezinguquko zomzimba | |
|---|---|
| Izinguquko ezandleni naseminweni | Isimo esingavamile sesithupha, ukuba nezithupha ezimbili esandleni esisodwa, noma ukungabi nasithupha nhlobo. |
| Ukukhubazeka kokukhula | Ukungabi nobude noma isisindo esifanele iminyaka. Ukuba mncane kunesilinganiso. |
| Izinguquko zosayizi wekhanda | Ikhanda elincane ngokungavamile (i-microcephaly)noma ukukhula okungavamile (i-hydrocephaly) . Lokhu kungathinta ukukhula kwengane, ukukhuluma kwayo, kanye nokuhamba kwayo. |
| Amabala esikhumba | Amabala amakhulu ansundu akhanyayo esikhumbeni. Lawa abizwa nangokuthi amabala "e-café-au-lait", abukeka njengamabala abukeka njengekhofi enobisi. |
| Ezinye izici | Ukukhubazeka kokuzwa, ukuma okungajwayelekile kwezindlebe, ukugoba komgogodla (i-scoliosis) , izinkinga ezithile zezinso noma zenhliziyo. |
Kungani lesi simo se-FA senzeka?
Lokhu kubangelwa yiphutha elisezakhini zethu zofuzo . Cabanga ngezakhi zofuzo njengohlaka lokwakha imizimba yethu. Kunezakhi zofuzo ezingaba ngu-20 ezihilelekile ku-FA. Umsebenzi oyinhloko walezi zakhi zofuzo ukulungisa umonakalo ku-DNA yethu .
Kuyo yonke impilo yethu, ngenxa yezinto ezisendaweni esikuyo kanye nokudla esikudlayo, i-DNA emaseli emizimba yethu yonakala kancane. Lokho kuvamile. Amaprotheni enziwa yizakhi zofuzo ze-FA asebenza njengethimba lokulungisa, elungisa le DNA eyonakele.
Kodwa-ke, ngenxa yokuthi umuntu one-FA une-mutation kulezi zakhi zofuzo, ithimba lokulungisa alisebenzi kahle. Kwenzekani-ke?
- Umonakalo we-DNA uyanqwabelana.
- Lokhu kubangela ukuthi amangqamuzana aqale ukuhlukana ngendlela engavamile (okungaholela kumdlavuza) noma amangqamuzana afe.
- Umnkantsha uba buthaka futhi kwenzeka izinguquko zomzimba njengoba amaseli efa.
Lokhu kuyinto ezuzwa ngabazali ezinganeni. Uma bobabili abazali bengabathwali balesi sakhi sofuzo esingasebenzi kahle, kunethuba elingu-25% lokuthi ingane yabo izoba ne-FA.
Odokotela bayixilonga kanjani i-FA?
I-FA ivame ukutholakala ngesikhathi sokwelashwa noma ukuhlolwa kwesinye isimo (njenge-anemia noma umdlavuza). Udokotela wakho uzohlola ngokucophelela izimpawu zakho noma zengane yakho futhi ancome ukuhlolwa okuningana uma kusolwa i-FA.
Ukuhlolwa okwenziwa njalo:
- Ukubalwa Kwegazi Okuphelele (i-CBC): Lokhu kulinganisa inani lamaseli abomvu, amaseli amhlophe, nama-platelet egazini. Kungahlola noma yimaphi amazinga aphansi alawa.
- I-Bone Marrow Biopsy: Kuthathwa isampula encane yomnkantsha bese ihlolwa ngaphansi kwe-microscope ukuze kubonakale ukuthi amangqamuzana akheka kanjani nokuthi yiziphi izinkinga anazo.
- Ama-MRI nama-Ultrasound Scan: Lokhu kuhlolwa kusiza ukubona ukuthi kukhona yini izinguquko ezithweni zomzimba ngaphakathi (njengezinso nenhliziyo).
Ukuhlolwa okuqondile ukuqinisekisa i-FA:
- Ukuhlolwa Kokuphuka Kwe-Chromosome: Lokhu ukuhlolwa okuyinhloko okusetshenziselwa ukuxilonga i-FA. Kulokhu kuhlolwa, kufakwa ikhemikhali emaseli kusampula yegazi bese kuhlolwa ama-chromosome ukuthi awonakele noma awaphukile. Ama-chromosome emaseli omuntu one-FA wonakala ngokushesha kakhulu kunakumuntu ojwayelekile.
- Ukuhlolwa Kwezakhi Zofuzo: Lokhu kuhlolwa kungakhomba isici esithile sezakhi zofuzo esibangela i-FA.
Ngingahlolwa yini ngesikhathi sokukhulelwa?
Yebo. Uma othile emndenini wakho ene-FA, ingane yakho ingahlolwa isimo ngesikhathi sokukhulelwa. Lokhu kungenziwa ngokusebenzisa izivivinyo ezifana ne -amniocentesis noma i-chorionic villus sampling . Ungakhuluma nodokotela wakho ngalokhu ukuze uthole okwengeziwe.
Yiziphi izindlela zokwelapha i-FA?
Umgomo oyinhloko wodokotela lapho belapha i-FA ukulawula izimpawu nokuphatha izinkinga.
- Ukufakelwa Umongo Wethambo: Lokhu ukuphela kwendlela yokwelapha izinkinga zegazi ezibangelwa yi-FA. Kulokhu, umongo wethambo onephutha wesiguli uyabhujiswa bese umongo wethambo ovela kumnikeli onempilo nohambisanayo ubuyiselwa esigulini.
- Ukwelashwa kwe-Androgen: Lezi ziwuhlobo lwe-hormone. Le mithi ivuselela umongo wamathambo ukuze isize ukwandisa ukukhiqizwa kwamangqamuzana abomvu egazi nama-platelet.
- Izinto Zokukhula Zokwenziwa: Lezi zinikezwa njengemijovo futhi zisiza ukwandisa ukukhiqizwa kwamangqamuzana amhlophe egazi kanye namangqamuzana abomvu egazi avela emnkantsheni wethambo.
- Ukuhlinzwa: Kungadingeka ukuhlinzwa ukuze kulungiswe izinguquko zomzimba (isibonelo, inkinga ngozwane olukhulu) noma ukulungisa izitho ezonakele.
Into ebaluleke kakhulu ukuthi udokotela okuxilongayo uzonquma ukuthi yikuphi ukwelashwa okungcono kakhulu kuwe noma enganeni yakho. Ngakho-ke qiniseka ukuthi ulandela imiyalelo kadokotela.
Ukuhlala ne-FA nezinto okufanele uziqaphele
I-FA yisimo sokuphila konke okumele silawulwe, ngakho-ke kubalulekile ukuqapha impilo yakho njalo.
- Ingozi yomdlavuza: Njengoba i-FA ikhulisa ingozi yomdlavuza, ukubhema nokuphuza utshwala kufanele kugwenywe ngokuphelele . Futhi, njengoba ingozi yomdlavuza wesikhumba iyanda, lapho uphuma elangeniKufanele uvikele isikhumba sakho ngokusebenzisa isithako esihle sokuvikela ilanga nokugqoka isigqoko. Qaphela amabala amasha namaqhubu esikhumbeni sakho.
- Ukopha: Gwema ezemidlalo nemisebenzi engabangela ukulimala ngenxa yokubala okuphansi kwama-platelet. Sebenzisa ibhulashi lamazinyo elithambile lapho uxubha amazinyo akho. Uma uzwa ukopha noma ukuphuka, yazisa udokotela wakho ngokushesha.
- Ukuhlolwa njalo kwezokwelapha: Yiba khona njalo ekuhlolweni njengoba udokotela wakho ekuyalele. Kubalulekile ukuthola ukuhlolwa kwegazi nokuhlolwa komdlavuza ngesikhathi.
Ingabe kusadingeka ngikhathazeke ngalezi zinto ngemva kokufakelwa umnkantsha ngempumelelo?
Yebo, impela. Nakuba ukufakelwa umnkantsha kungalapha izifo zegazi ezibangelwa yi-FA, isici sofuzo se-FA sisekhona kwamanye amaseli omzimba. Ngakho-ke, ingozi yokuthola umdlavuza ezindaweni ezifana nekhanda, intamo, nesikhumba isalokhu ikhona. Ngakho-ke, kubaluleke kakhulu ukuba ngaphansi kokubhekwa kwezokwelapha impilo yakho yonke ngisho nangemva kokufakelwa.
Umlayezo Wokuya Nawe Ekhaya
- I-Fanconi anemia (FA) ayiwona umdlavuza, kodwa yisifo esingavamile, esizuzwe njengefa esikhulisa ingozi yomdlavuza.
- Lesi sifo sithinta kakhulu umongo wamathambo, sinciphisa ukukhiqizwa kwamangqamuzana egazi anempilo.
- Izimpawu ezivamile zifaka phakathi ukukhathala okuvamile, ukuphaphatheka, ukugula okuvamile, kanye nokopha noma ukuphuka kalula.
- Ukufakelwa umnkantsha wethambo kuyindlela engcono kakhulu yokwelapha izinkinga ezihlobene negazi zalesi sifo. Kodwa ngisho nangemva kokufakelwa, ukuqapha impilo yonke yezokwelapha kubalulekile ngenxa yengozi yomdlavuza.
- Uma wena noma ingane yakho ninalezi zimpawu noma ninomlando womndeni, ningesabi futhi nibone udokotela wakho ngokushesha ukuze nithole iseluleko.
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