I-Fanconi I-Anemia yintlupheko engafumanekanga yintlupheko yesifo somnxeba ebizwa ngokuba yi- pancytopenia (iiseli zegazi ezimhlophe, amangqamuzana egazi abomvu, kunye neeplatelets) kunye nokungaqhelekanga ngokomzimba. Ubuninzi buphezulu kumaYuda ase-Askenazi, amaRoma aseSpain kunye nabamnyama baseMzantsi Afrika. Akufanele kudideke ne-Fanconi's syndrome, isifo sezintso. Uninzi lwezigulane zifunyaniswa phambi kokuba uneminyaka eyi-10 ubudala.
Iimpawu kunye nezibonakaliso ze-Fanconi anemia
Ngaphezu kwe-50% yezigulane zinokungaqhelekanga ngokomzimba. Ezi ziquka:
- Utshintsho lwesikhumba - ama-hypopigmented spots (elula ngaphezu kwesikhumba esisijikelezile) okanye indawo ye-café-au-lait (iindawo zohlobo lwekhofi)
- Isiqu esifutshane
- Iingqumbo ezingekho
- Ubunzima obungabonakaliyo - ubungakanani bentloko encinci, ukwanda kwamanzi kwiingqondo
- Iimpso ezingenanto okanye ezingenakulungiswa
- Ukungaqhelekanga kohlobo lwama-genitalia
- Ukulibaziseka okuphuhlisayo
Njengoko iseli legazi libala ukuwa, iimpawu ze-pancytopenia ziyakhula.
- Ukwanda kwegazi okanye ukuphuma kwamanzi (inani eliphantsi leplatelet okanye thrombocytopenia )
- Ukukhathala, isikhumba esiluhlaza (i- anemia )
- Imfiva, izifo (ubuncinane bamhlophe okanye i- neutropenia )
Ukuxilongwa komhlaza kungabonakalisa okokuqala. Abantu abane-Fanconi Anemia basengozini enkulu yokuphuhlisa:
- I-Lyeloid Leukemia
- Myelodysplastic syndrome
- Intloko neentamo zomhlaza
- Izibilini zesibindi
- I-Wilms tumor (umdlavuza weentso)
- Amanqamana enesisu (GI)
- Vulvar kunye nomhlaza womhlaza
Ukuxilongwa
Inkqubo yokufumanisa i-TB ingaba yicotha, njengoko i-presentation ishintsha ngokugqithiseleyo ngexesha.
Inani elisezantsi leplatelet liqhelekileyo luphawu lokuqala lweengxaki. Emva kwexesha, i-white white cell count count decreases followed by anemia. I-anemia ichazwa njengentsingiselo ye-macrocytic ukuba iiseli ezibomvu zegazi zinkulu kunezona ziqhelekileyo. Ezi ziphumo zebhubhoratri ezidibaniswe nokungaqhelekanga kokuhlaziywa ngentla apha zibonisa i-Fanconi Anemia.
Izigulane kunye ne-Fanconi Anemia nazo zisengozini yokwanda komhlaza. I-Cancer ebonisa ngexesha eliqhelekileyo ingaba yintetho yokuqala kwezinye izigulane. Kwakhona, kunokuthathwa ukuba amalungu amaninzi entsapho ahlakulele umhlaza.
Xa i-Fanconi iAnemia ikhunjulwa, igazi lithunyelwa kuvavanyo olukhethekileyo lwebhoratri olubizwa ngokuthi i-chromosomal breakage. Impembelelo yezofuzo kwiFanconi Anemia ivimbela i-chromosomes ukuba ikwazi ukuzilungisa ngokufanelekileyo ekukholekeni komnatha we-bone kunye nomhlaza kwasebuncinaneni. Ukuba ukuhlolwa kwe-chromosomal breakage kuhambelana ne-Fanconi Anemia, ukuhlolwa kofuzo kungathunyelwa. Ukongeza kokuqinisekisa ukuxilongwa, le ngcaciso ivumela ukuba intsapho ibe nolwazi olungakumbi malunga nomngcipheko wokuba nabantwana abangaphezulu nale meko.
Ifa
I-Fanconi iAnemia idla ngokudlulela phantsi kwiprosiksi ye-autosomal. Oku kuthetha ukuba bobabini abazali kufuneka babe ngumphathiswa kumntwana wabo ukuba abe nesifo. Kule meko, bobabini abazali banabathwali kwaye bane-1 kwithuba eli-4 lokuba nomntwana kunye ne-Fanconi Anemia. Okuninzi kunqabileyo, idlulelwe kwifayile edibeneyo ye-X ebonisa ukuba utshintsho lomzimba lukho kwi X chromosome. Kule meko, unina unako ukudlula eso sifo kubantwana bakhe.
Unyango
Ukutshintshiswa: I- Red cell cell kunye ne-platelet transfusion zisebenzise ukuzalisa ukubonelela njengoko umongo wethambo awukwazi ukuvelisa iimali eziqhelekileyo. Ukutshintshela kusetshenziselwa ukukhusela iimpawu ze-anemia (ukukhathala, ukhathala) okanye i-thrombocytopenia (ukuphuma kwegazi).
I-Oxymetholone: I- Oxymetholone yi-anabolic steroid yomlomo engasetyenziselwa ukuphucula ukubala kweeseli zegazi. Oku kuqhelekileyo kusetyenziswa izigulane ezingenabo abantakwabo abanokufumana amathambo abanike umongo.
Umtsalane wokutsalwa komnyo: I- Bone marrow transplantation inokuphelisa i-pancytopenia, kodwa ayiyinciphisi umngcipheko wokuphila komhlaza. Iziphumo ezigqwesileyo zibonwa xa zihambelana nomntakwabo zingaba ngabanikeli.
> Umthombo:
> I-Bertuch A. Inzala ye-aplastic anemia kubantwana nakwishumi elivisayo. Ku: Uhla, Iposi, TW (Ed), UpToDate, Waltham, MA, 2016.