Ingabe ingane yakho izizwa ikhathele futhi ikhathele ngaso sonke isikhathi? Ingabe ibukeka iphaphathekile? Noma ingabe kukhona izinguquko zomzimba ezikhona kusukela ekuzalweni? Mhlawumbe imbangela yalezi zinto yisimo esingavamile esibizwa ngokuthi i-Fanconi Anemia. Ungesabi uma uzwa leli gama, ngoba yisimo abantu abaningi abake bezwa ngaso, siyinkimbinkimbi kancane, futhi asivamile kakhulu. Ngakho-ke namuhla sizoxoxa ngalokhu, ukuthi kuyini, yiziphi izimpawu, nokuthi kukhona ukwelashwa, konke ngendlela elula kakhulu ongayiqonda.
Kulungile, ake siqale sibone ukuthi iyini i-Fanconi anemia (FA)?
Kalula nje, i-Fanconi Anemia (FA) yisimo esingavamile sofuzo esithinta kakhulu umongo wethambo emizimbeni yethu.
Manje ungase uzibuze ukuthi lo mnkantsha wethambo uyini. Siwubiza ngokuthi ingxenye ethambile, eneziponji ngaphakathi kwamathambo amakhulu omzimba wethu. Ufana nefektri yegazi emizimbeni yethu. Izinhlobo ezintathu eziyinhloko zamangqamuzana egazi ezidingwa umzimba wethu , amangqamuzana egazi abomvu, amangqamuzana egazi amhlophe, nama-platelet, akhiqizwa kulo mnkantsha wethambo.
Kodwa-ke, umongo womuntu one-FA awukwazi ukwenza la maseli egazi ngendlela efanele. Kufana nokuthi ukukhiqizwa kwefektri kuyaphazamiseka. Ngenxa yalokho, amaseli egazi anempilo awakhiqizwa ngobuningi obanele. Lesi simo singabangela izinkinga ezahlukene zempilo. Futhi, i-FA ingathinta hhayi umongo wethambo kuphela, kodwa nezinye izingxenye eziningi zomzimba.
I-FA iwuthinta kanjani umzimba?
Indlela lesi simo esithinta ngayo umuntu ngamunye ingahluka, kodwa ngokuvamile, kunemiphumela eminingana eyinhloko.
- Ukukhubazeka ngokomzimba: Cishe ama-75% ezingane ezizalwa zine-FA, noma ezintathu kwabane, zinesimo esithile sokukhubazeka ngokomzimba. Lokhu kungathinta kokubili ukubukeka kanye nezitho zangaphakathi.
- Ukwehluleka Kwe-Bone Marrow: Cishe abantu abangu -90% abane-FA baqala ukwehluleka kwe-bone marrow. Lokhu kusho ukuthi i-bone marrow ayikwazi ukwenza amangqamuzana egazi anempilo anele. Lokhu kungaholela kwezinye izifo zegazi, njenge- aplastic anemia kanye ne-myelodysplastic syndrome (MDS) . I-MDS ibhekwa njenge-pre-leukemia.
- Ingozi ekhulayo yomdlavuza: Phakathi kuka -10% no-30% wabantu abane-FA banengozi ekhulayo yokuthuthukisa izinhlobo ezithile zomdlavuza, njenge-leukemia. Lezi zinhlayiya zingavela futhi esemncane kunomuntu ojwayelekile.
Kodwa ungakhathazeki uma uzwa lezi zinto. Namuhla, ngesayensi yezokwelapha ethuthukisiwe, ikakhulukazi ukwelashwa okufana nokufakelwa umnkantsha, abantu abane-FA banethuba lokuphila impilo enempilo nende.
Ingabe i-Fanconi anemia ingumdlavuza?
Lona umbuzo abantu abaningi abanawo. Impendulo elula ithi, cha . I-FA ayisona umdlavuza. Yisifo esibangelwa ufuzo.
Kodwa-ke, ngenxa yokuthi ikhono lomzimba lokulungisa amangqamuzana alimele liyaphazamiseka kubantu abane-FA, basengozini enkulu yokuba nomdlavuza kunabanye. Ikakhulukazi, banamathuba amaningi okuthola umdlavuza ofana ne- acute myeloid leukemia , umdlavuza wesikhumba, kanye nomdlavuza wekhanda nentamo.
Ziyini izimpawu zalesi sifo?
Izimpawu ze-FA ziyahlukahluka kakhulu. Abanye abantu banezimpawu ezibonakalayo lapho bezalwa, kanti abanye bangase bangabi nazo izimpawu iminyaka eminingi. Ake sihlukanise lezi zimpawu zibe yizigaba eziningana.
1. Izimpawu ze-Anemia
Lezi zimpawu zibonakala lapho amangqamuzana abomvu egazi emzimbeni ehla.
- Ukukhathala njalo: Ukuzizwa ukhathele futhi ukhathele kangangokuthi awukwazi ngisho nokwenza imisebenzi evamile.
- Isikhumba esiphaphathekile: Isikhumba sibonakala siphaphathekile ngenxa yokuntuleka kwegazi emzimbeni.
- Ukuphelelwa umoya: Ukuzizwa uphelelwa umoya ngisho nangemva kokuhamba kancane.
- Ukuzizwa sengathi inhliziyo yakho ishaya ngokushesha.
- Ubuhlungu bekhanda obuhlala bukhona.
2. Izimpawu Zokwehluleka Kwe-Bone Marrow
Lokhu kubangela izimpawu ngenxa yokwehla kwamangqamuzana abomvu egazi, amangqamuzana amhlophe egazi, kanye nama-platelet.
- Ukutheleleka okuvamile: Ngenxa yokuntuleka kwamangqamuzana amhlophe egazi, amasosha omzimba aba buthaka, okuholela ekuthelelekeni okuvamile kwamagciwane kanye nesikhunta.
- Ukopha okulula: Inani eliphansi lama-platelet liphazamisa ukujiya kwegazi. Lokhu kungaholela ekuphumeni kwegazi ezinsinini nasemakhaleni, ukuklwebheka nokuklwebheka, kanye nokopha okungayeki ngisho nokulimala okuncane.
3. Izimpawu zomdlavuza ezingase zihlotshaniswe ne-FA
- I-MDS ne-AML: Lezi zimo zingabangela ukukhathala okukhulu, ukopha kalula kanye nokushayeka, ukuphaphatheka, ubunzima bokuphefumula, kanye nokutheleleka okukhulu.
- I-Squamous cell carcinoma: Amaqhubu amabi noma izilonda ezingapholi esikhumbeni.
4. Izici ezihambisana nezinguquko zomzimba
Lezi zici zivame ukubonakala lapho umuntu ezalwa. Akuwona wonke umuntu onazo zonke lezi zici, kodwa bangase babe nesinye noma ngaphezulu.
| Umehluko wesici/ongokomzimba | Incazelo elula |
|---|---|
| Izinguquko ezandleni nasezithupheni | Izithupha ezimile ngendlela engajwayelekile, ezinezithupha ezimbili esandleni esisodwa, noma ezingenazo nhlobo izithupha. |
| Ikhanda elincane kunelivamile (i-Microcephaly) | Lezi zingane zingase zibhekane nokubambezeleka ekufundeni izinto ezifana nokukhuluma, ukuma, nokuhamba. |
| I-Hydrocephalus | Lokhu kungabangela izinkinga ngokulinganisela, umbono, kanye nokufunda. |
| Ukukhubazeka kokuzwa | Ubunzima bokuzwa ngenxa yezindlebe ezingavamile noma ezincane. |
| Izinguquko zombala wesikhumba | Amabala ansundu akhanyayo (amabala e-café-au-lait) noma amabala amakhulu esikhumbeni. |
| I-Scoliosis | Ukubona ukugoba okungajwayelekile komgogodla. |
| Ukukhubazeka kokukhula | Ukuba mude futhi usinda kakhulu kunontanga. |
Kungani lokhu kwenzeka? Iyini imbangela?
Isizathu salokhu yiphutha ezakhiweni zethu zofuzo . Cabanga ngemizimba yethu njengesakhiwo esakhiwe ngokwecebo eliyinkimbinkimbi. Lelo cebo yizakhi zofuzo zethu. Kunezakhi zofuzo ezingaba ngu-20 ezihlobene ne-FA. Umsebenzi oyinhloko walezi zakhi zofuzo ukuvikela nokulungisa amaseli omzimba wethu, ikakhulukazi i-DNA, ekulimaleni kwansuku zonke.
Umuntu one-FA une-mutation kulezi zakhi zofuzo. Ngakho-ke, inqubo yokulungisa umonakalo ayenzeki kahle.
- Ngenxa yalokhuOkunye ukulimala kwe-DNA kuyaqongelela futhi amaseli aqala ukuhlukana ngendlela engavamile noma afe.
- Izinguquko zomzimba kanye nokwehla kwenani lamaseli egazi kwenzeka lapho amaseli efa ngendlela engavamile.
- Umdlavuza ofana ne-leukemia uvela lapho amangqamuzana eqala ukukhula ngendlela engajwayelekile.
Lokhu kuyinto ezuzwa njengefa kubazali eya ezinganeni. Abazali ababili abanesakhi sofuzo esingasebenzi kahle banethuba elingama-25% (oyedwa kwabane) lokuba nomntwana one-FA.
Odokotela basithola kanjani lesi sifo?
Ngokuvamile, i-FA isolwa lapho kuhlolwa ezinye izimpawu (isibonelo, i-anemia, ukutheleleka okuvamile), kunokuba kutholakale ngokuqondile. Kulapho-ke kuphela lapho kwenziwa khona ukuhlolwa okuqondile kwalesi simo.
Nazi ezinye zezivivinyo ezivame ukwenziwa:
| Ukuhlolwa | Ubonani lapha? |
|---|---|
| Inani Eliphelele Legazi (i-CBC) | Inani lamaseli abomvu, amaseli amhlophe, nama-platelet egazini kanye nempilo yawo kuyahlolwa. |
| Ukuhlolwa Kwe-Bone Marrow | Kuthathwa isampula encane yomnkantsha bese kuhlolwa amangqamuzana ukuze kutholakale ukuthi lesi sifo sikhona. |
| Ukuskena kwe-MRI kanye ne-Ultrasound | Lezi zisetshenziselwa ukuqapha izinguquko ezithweni zangaphakathi zomzimba. |
Kukhona nokuhlolwa okukhethekile kwezakhi zofuzo okusetshenziselwa ukuqinisekisa lesi sifo:
- Ukuhlolwa Kokuphuka Kwe-Chromosome: Lolu vivinyo oluyinhloko lokuxilonga i-FA. Kulolu vivinyo, kufakwa ikhemikhali emangqamuzaneni egazi bese kulinganiswa ama-chromosome akulawo mangqamu ukuze kubonakale ukuthi aphuka kalula kangakanani. Ama-chromosome emangqamuzaneni omuntu one-FA aphuka kakhulu kunakumuntu ovamile.
- Ukuhlolwa Kwezakhi Zofuzo: Lokhu kuhlolwa kwenziwa ukuze kutholakale isici esithile sezakhi zofuzo esibangela i-FA.
Ngingathola yini ukuthi ingane yami inalesi simo ngesikhathi sokukhulelwa?
Yebo. Uma kunomlando womndeni we-FA, ingane yakho ingahlolwa lesi sifo ngesikhathi sokukhulelwa. Lokhu kungenziwa kusetshenziswa izivivinyo ezifana ne -amniocentesis noma i-chorionic villus sampling . Ungakhuluma nodokotela wakho ngalokhu bese uthola okwengeziwe.
Yiziphi izindlela zokwelapha lokhu?
Akukho ukwelashwa kwe-FA okwamanje. Kodwa-ke, kunezindlela zokwelapha ezisebenzayo zokulawula izimpawu nezinkinga ezivela kukho. Uhlelo lokwelashwa lunqunywa ubudala besiguli, uhlobo lwezimpawu, kanye nempilo yaso iyonke.
| Indlela yokwelapha | Kwenzekani kulokhu? |
|---|---|
| Ukufakelwa Komnkantsha Wamathambo | Lokhu kuyindlela engcono kakhulu yokwelapha izinkinga ezihlobene negazi ezibangelwa yi-FA. Kulokhu, amaseli okuqala omnkantsha avela kumuntu ophilile ayatshalwa ukuze athathe indawo yomnkantsha onesifo. |
| Ukwelashwa kwe-Androgen | Lolu hlobo lwe-hormone lukhuthaza ukukhiqizwa kwamangqamuzana abomvu egazi nama-platelet emzimbeni. |
| Izinto Zokukhula Zokwenziwa | Lokhu kunikezwa njengemijovo futhi kusiza umongo wamathambo ukuthi wakhe amaseli egazi amhlophe nabomvu engeziwe. |
| Ukuhlinzwa | Ukuhlinzwa kungasetshenziswa ukulungisa izinkinga zomzimba ezikhona ekuzalweni (isib. inkinga ngobhontsi omkhulu). |
Izinto okufanele uzazi mayelana nokuphila ne-FA
Umuntu one-FA noma umzali wengane ene-FA kudingeka ahlale eqaphile.
- Ingozi yomdlavuza:Abantu abane-FA basengozini enkulu yokuthola umdlavuza njengogwayi, ngakho ukubhema kanye nokuchayeka entuthwini yomusi kufanele kugwenywe ngokuphelele .
- Ukuvikela isikhumba sakho: Ngenxa yengozi enkulu yomdlavuza wesikhumba, kubaluleke kakhulu ukumboza isikhumba sakho kahle nokusebenzisa isivikelo selanga uma uphuma elangeni.
- Qaphela ukulimala: Ngenxa yokwanda kwengozi yokopha, udinga ukuqaphela kakhulu ngesikhathi semisebenzi engabangela ukulimala.
- Ukuhlolwa njalo kwezokwelapha: Ngisho nangemva kokufakelwa umongo wethambo ngempumelelo, ingozi yomdlavuza iyaqhubeka, ngakho-ke kubalulekile ukuba nokuhlolwa okuqhubekayo kwezokwelapha kanye nokulandelela impilo yakho yonke. Qaphela noma yiziphi izinguquko emzimbeni wakho (ukuphuka okungavamile, ukopha, ukukhathala) bese wazisa udokotela wakho ngokushesha uma ubona noma yikuphi.
Ukuphila nalesi simo kungaba yinselele, kodwa ithimba lakho lezokwelapha lizokunikeza isiqondiso nokusekelwa okudingayo. Ngakho-ke ungesabi ukukhuluma nodokotela wakho nganoma yiziphi izinkinga ongase ube nazo.
Umlayezo Wokuya Nawe Ekhaya
- I-Fanconi anemia (FA) yisifo esingavamile esithinta kakhulu umongo wamathambo.
- Lokhu kungaholela ekukhiqizweni kwamaseli egazi okuphazamiseka, izinguquko zomzimba, kanye nengozi eyengeziwe yomdlavuza.
- Qaphela izimpawu ezifana nokukhathala njalo, ukuphaphatheka, ukopha kalula, kanye nokutheleleka okuvamile.
- Lesi sifo singahlolwa ngokunembile ngokusebenzisa ukuhlolwa kwegazi okukhethekile kanye nokuhlolwa kofuzo.
- Nakuba ukwelashwa okufana nokufakelwa umnkantsha kungaphatha ngempumelelo izinkinga zesifo ezihlobene negazi, ukuqapha impilo yonke kubalulekile.
- Uma wena noma ingane yakho inalesi simo, awuwedwa. Ukusebenzisana eduze nethimba lakho lezokwelapha kungakusiza unqobe le nselele.
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