I-Fanconi anemia: yintoni, iimpawu eziphambili kunye nonyango

Umxholo

• Iimpawu eziphambili
• Uxilongo lwenziwa njani
• Unyango lwenziwa njani

I-Fanconi anemia sisifo semfuza kunye nelifa, elinqabileyo, kwaye linikezela ebantwaneni, ngokubonakala kokuzalwa okungalunganga, okubonwe ekuzalweni, ukusilela komongo wethambo kunye nokuchaphazeleka komhlaza, utshintsho oluhlala lubonwa kwiminyaka yokuqala yomntwana ubomi.

Nangona sinokubonisa iimpawu kunye neempawu, ezinje ngotshintsho emathanjeni, amabala esikhumba, ukukhubazeka kwezintso, ubude obufutshane kunye namathuba amakhulu okuba nesifo somhlaza kunye neleukemia, esi sifo kuthiwa yi-anemia, kuba ukubonakaliswa kwaso kukwehla kwemveliso yeeseli zegazi. ngomongo wethambo.

Ukunyanga i-Fanconi ye-anemia, kufuneka ulandele i-hematologist, ecebisa utofelo-gazi okanye ukufakelwa komongo wethambo. Ukuhlolwa kunye nokuthintela ukukhusela okanye ukufumanisa umhlaza kwangethuba nako kubaluleke kakhulu.

Iimpawu eziphambili

Ezinye zeempawu kunye neempawu ze-Fanconi anemia zibandakanya:

• Ukunqongophala kwegazi, iiplatelet ezisezantsi kunye neeseli ezimhlophe zegazi ezingaphantsi, ezonyusa umngcipheko wokuba buthathaka, isiyezi, ipallor, amabala e-purplish, ukopha kunye nosulelo oluphindaphindiweyo;
• Ukukhubazeka kwamathambo, njengokungabikho kobhontsi, ubhontsi omncinci okanye ukunqunyulwa kwengalo, i-microcephaly, ubuso obulungiswe kakuhle ngomlomo omncinci, amehlo amancinci kunye nesilevu esincinci;
• Mfutshane, kuba abantwana bazalwa benobunzima obuphantsi kunye nokuma okungaphantsi kokulindelekileyo kubudala babo;
• Amabala esikhumbeni ikofu-enobisi umbala;
• Umngcipheko okhulayo wokuba nomhlaza, ezinje ngeleukemia, i-myelodysplasias, umhlaza wolusu, umhlaza wentloko nentamo kunye nakwimimandla yesini kunye neyomchamo;
• Utshintsho kumbono nakwindlebe.

Olu tshintsho lubangelwa ziziphene zemfuza, ezidluliselwa zisuka kubazali ziye ebantwaneni, ezichaphazela la malungu omzimba. Ezinye iimpawu kunye neempawu zinokuba namandla ngakumbi kwabanye abantu kunakwabanye, njengoko ubungqongqo kunye nendawo echanekileyo yotshintsho lwemfuzo zinokwahluka kumntu nomntu.

Uxilongo lwenziwa njani

Ukufunyaniswa kwe-Fanconi's anemia kurhanelwa ngokujongwa kweklinikhi kunye neempawu kunye neempawu zesifo. Ukusebenza kovavanyo lwegazi olufana nokubala okupheleleyo kwegazi, ukongeza kuvavanyo lwe-imaging njenge-MRI, i-ultrasound kunye ne-x-reyi yamathambo kunokuba luncedo ekuchongeni iingxaki kunye neziphene ezinxulumene nesifo.

Ukuxilongwa kuqinisekiswa ikakhulu kuvavanyo lwemfuza olubizwa ngokuba yiChromosomal Fragility Test, enoxanduva lokufumanisa ikhefu okanye utshintsho kwiDNA kwiiseli zegazi.

Unyango lwenziwa njani

Unyango lwe-Fanconi's anemia lwenziwa ngesikhokelo se-hematologist, ecebisa utofelo-gazi kunye nokusetyenziswa kwe-corticosteroids ukuphucula umsebenzi wegazi.

Nangona kunjalo, xa umongo usonakala, kunokwenzeka ukuba unyange ngokufakelwa umongo wethambo. Ukuba umntu akanaye umnikeli ofanelekileyo wokwenza olu fakelo, unyango olunamahomoni e-androgen lunokusetyenziselwa ukunciphisa inani lotofelo-gazi ade lowo unikelayo afumaneke.

Umntu onale syndrome kunye nosapho lwakhe kufuneka ukuba alandelwe kunye neengcebiso ezivela kugqirha wezemfuzo, oya kuthi acebise ngeemviwo kwaye alandele abanye abantu abanokuba nesi sifo okanye basidlulisele ebantwaneni babo.

Ukongeza, ngenxa yokungazinzi kwemfuza kunye nokwanda komngcipheko womhlaza, kubaluleke kakhulu ukuba umntu onesi sifo ahlolwe rhoqo, kwaye athathe amanyathelo okhuseleko anje ngala:

• Musa ukutshaya;
• Kulumkele ukusela iziselo ezinxilisayo;
• Yenza ugonyo ngokuchasene ne-HPV;
• Kulumkele ukuzibeka kwimitha efana ne-x-reyi;
• Kuphephe ukuboniswa kakhulu okanye ngaphandle kokukhuselwa elangeni;

Kukwabalulekile ukuba uye kuthethwano kwaye ulandele ezinye iingcali ezinokuthi zibone utshintsho olunokwenzeka, njengogqirha wamazinyo, i-ENT, ugqirha wezamayeza, ugqirha wamazinyo okanye ugqirha wezentetho.