I-Fanconi anemia: kuyini, izimpawu eziyinhloko nokwelashwa

-Delile

• Izimpawu eziyinhloko
• Ukuxilongwa kwenziwa kanjani
• Yelashwa kanjani

I-Fanconi anemia yisifo sofuzo nesofuzo, esingajwayelekile, futhi esivela ezinganeni, ezinokubonakala kokukhubazeka kokuzalwa, okubonwa lapho kuzalwa, ukwehluleka komnkantsha okuthuthukayo kanye nokwakheka komdlavuza, izinguquko ezivame ukubonwa eminyakeni yokuqala yengane impilo.

Yize singethula izimpawu nezimpawu eziningana, njengokushintsha kwamathambo, amabala esikhumba, ukukhubazeka kwezinso, ukukhula okufushane namathuba amakhulu okuba nezimila kanye neleukemia, lesi sifo sibizwa ngokuthi yi-anemia, ngoba ukubonakaliswa kwaso okukhulu ukwehla kokukhiqizwa kwamangqamuzana egazi. ngomnkantsha wethambo.

Ukwelapha i-anaemia kaFanconi, kuyadingeka ukuthi ulandele udokotela wezifo zegazi, oweluleka ngokumpontshelwa igazi noma ukufakelwa umnkantsha. Ukuhlola nokuqapha ukuvikela noma ukuthola umdlavuza kusenesikhathi nakho kubaluleke kakhulu.

Izimpawu eziyinhloko

Ezinye zezimpawu nezimpawu ze-Fanconi anemia zifaka:

• Ukushoda kwegazi, ama-platelet aphansi namaseli egazi amhlophe amancane, akhulisa ubungozi bokuba buthakathaka, isiyezi, i-pallor, amabala we-purplish, ukopha nokutheleleka okuphindaphindiwe;
• Ukukhubazeka kwamathambo, njengokungabikho kwesithupha, isithupha esincane noma ukunciphisa ingalo, i-microcephaly, ubuso obuhle obuhle ngomlomo omncane, amehlo amancane nesilevu esincane;
• Mfushane, ngoba izingane zizalwa zinesisindo esiphansi nesiqu esingaphansi kwalokho okulindelwe iminyaka yazo;
• Amabala esikhunjeni ikhofi-nobisi umbala;
• Ingozi eyengeziwe yokuba nomdlavuza, njenge-leukemias, i-myelodysplasias, umdlavuza wesikhumba, umdlavuza wekhanda nentamo kanye nowezitho zangasese nezomchamo;
• Izinguquko embonweni nasekuzweni.

Lezi zinguquko zidalwa ukukhubazeka kwezakhi zofuzo, okudluliselwa kusuka kubazali kuya ezinganeni, okuthinta lezi zingxenye zomzimba. Ezinye izimpawu nezimpawu zingase zibe namandla kakhulu kwabanye abantu kunezinye, njengoba ukuqina nendawo okuyoqobo yezinguquko zofuzo kungahluka kuye ngomuntu.

Ukuxilongwa kwenziwa kanjani

Ukutholakala kwe-anemia kaFanconi kusolwa ngokubhekwa komtholampilo kanye nezimpawu zesifo. Ukusebenza kokuhlolwa kwegazi njengokubala okuphelele kwegazi, ngaphezu kokuhlolwa kwe-imaging njenge-MRI, i-ultrasound kanye ne-x-ray yamathambo kungasiza ekuboneni izinkinga nokukhubazeka okuhambisana nalesi sifo.

Ukuxilongwa kuqinisekiswa ikakhulu ukuhlolwa kofuzo okubizwa ngeChromosomal Fragility Test, okunesibopho sokuthola amakhefu noma ukuguqulwa kwe-DNA kumaseli egazi.

Yelashwa kanjani

Ukwelashwa kwe-Fanconi's anemia kwenziwa ngokuqondiswa yi-hematologist, encoma ukumpontshelwa igazi nokusetshenziswa kwe-corticosteroids ukwenza ngcono ukusebenza kwegazi.

Kodwa-ke, lapho umnkantsha usonakala, kungenzeka ukuthi uwelaphe ngokufakelwa umnkantsha wethambo. Uma umuntu engenaye umnikeli ohambisanayo ukwenza lokhu kufakelwa, ukwelashwa ngamahomoni e-androgen kungasetshenziswa ukunciphisa inani lokumpontshelwa igazi kuze kube yilapho lowo onikelayo etholakala.

Umuntu onalesi sifo kanye nomndeni wakhe kumele futhi abe nokulandelwa nezeluleko ezivela kusosayensi wezofuzo, ozokweluleka ngezivivinyo futhi alandele abanye abantu abangaba nalesi sifo noma basidlulisele ezinganeni zabo.

Ngaphezu kwalokho, ngenxa yokungazinzi kwezakhi zofuzo kanye nobungozi obandayo bomdlavuza, kubaluleke kakhulu ukuthi umuntu onalesi sifo ahlolwe njalo, futhi athathe izinyathelo ezithile ezifana nezithi:

• Ungabhemi;
• Gwema ukuphuza iziphuzo ezidakayo;
• Goma i-HPV;
• Gwema ukuzibeka emisebeni efana ne-x-ray;
• Gwema ukuvezwa ngokweqile noma ngaphandle kokuvikelwa elangeni;

Kubalulekile futhi ukuya ekubonisaneni bese ulandela abanye ochwepheshe abakwazi ukubona ushintsho olungaba khona, njengodokotela wamazinyo, i-ENT, udokotela wezifo zomchamo, udokotela wezifo zabesifazane noma owelapha izinkulumo.