I-Fanconi Anemia yisifo esingenasidingo esasizuzwa nge-bone marrow syndrome esichazwe yi- pancytopenia (amangqamuzana egazi amhlophe aphansi, amangqamuzana egazi abomvu, namaplatelets) nokungajwayelekile ngokomzimba. Ukuvama kuphakeme kumaJuda ase-Ashkenazi, amaRoma aseSpain kanye nabantu abamnyama baseNingizimu Afrika. Akufanele kudidaniswe ne-Fanconi's syndrome, isifo sezinso. Iziguli eziningi zitholakale zingakafiki iminyaka eyi-10 ubudala.
Izimpawu Nezibonakaliso Ze-Fanconi Anemia
Iziguli ezingaphezu kuka-50% zinempilo engavamile. Lokhu kungafaka:
- Izinguquko zesikhumba - ama-hypopigmented (okulula kunesikhumba esiseduze) noma izindawo zokudlela ze-café-au-lait (izindawo ezinemibala yekhofi)
- Isiqu esifushane
- Izitho ezingavamile
- Ubunzima bebongo - usayizi omncane wekhanda, uketshezi okwenyuka ebuchosheni
- Izinso ezingenayo noma ezingalungile
- Ukungahambi kahle kobulili
- Ukubambezeleka kokuthuthukiswa
Njengoba i-cell cell ibonisa ukwehla, izimpawu ze-pancytopenia zingase zithuthuke.
- Ukwenyuka noma ukuphuma kwegazi (isibalo esiphansi seplatelet noma i- thrombocytopenia )
- Ukukhathala, isikhumba esilula (i- anemia )
- I-fever, izifo (inani eliphansi elimhlophe noma i- neutropenia )
Ukuxilongwa komdlavuza kungaba isethulo sokuqala. Abantu abane-Fanconi Anemia basengozini enkulu yokuthuthukisa:
- I-Acute Myeloid Leukemia
- I-Myelodysplastic syndrome
- Izinwele zekhanda nezintamo
- Izicubu zesibindi
- I-Wilms tumor (umdlavuza wezinso)
- Amagciwane wezinsipho (GI)
- I-Vulvar nomdlavuza wesilwane
Ukuxilongwa
Inqubo yokuthola ukuthi ingaba yinto encane, njengoba isethulo sivame ukushintsha ngokuhamba kwesikhathi.
Inani eliphansi leplatelet ngokuvamile liwuphawu lokuqala lwezinkinga. Ngemva kwesikhathi, isibalo segazi esimhlophe sinciphisa kulandelwa i-anemia. I-anemia ichazwa ngokuthi incazelo yama-macrocytic ukuthi amangqamuzana egazi abomvu amakhulu kunokujwayelekile. Lezi zatholampilo ezitholakele zihlangene nokungajwayelekile okubuyekezwa ngenhla kusikisela i-Fanconi Anemia.
Iziguli ezine-Fanconi Anemia nazo zengozi yokukhula komdlavuza. I-cancer eveza ngesikhathi esingajwayelekile kakhulu ingaba yisethulo sokuqala kwezinye iziguli. Futhi, kungase kuthathwe uma amalungu amaningi omkhaya ofanayo ethola umdlavuza.
Uma kukhishwa ukuthi i-Fanconi Anemia, igazi lihanjiswa ukuhlola okukhethekile okwenziwa kwelabhuthiwe okuthiwa i-chromosomal breakage. Isici se-genetic ku-Fanconi Anemia ivimbela ama-chromosomes ukuba akwazi ukuzilungisa ngokuqondile ekuholeni kokuhluleka komnyoba nomdlavuza esemncane. Uma ukuhlolwa kwe-chromosomal breakage kuhambisana ne-Fanconi Anemia, ukuhlolwa kofuzo nakho kungathunyelwa. Ngaphandle kokuqinisekisa ukuxilongwa, lolu lwazi lunikeza umndeni ulwazi oluningi mayelana nobungozi bokuba nezingane ezingaphezu kwalesi simo.
Ifa
I-Fanconi i-Anemia ivame ukudluliselwa kuphethini ephindaphindiwe ye-autosomal. Lokhu kusho ukuthi bobabili abazali kufanele babe ngumthwali womntwana wabo ukuba abe nesifo. Kulesi simo, abazali bobabili bayithwala futhi bane-1 kwanezikhathi ezine zokuba nengane ene-Fanconi Anemia. Ngokungajwayelekile, idluliselwa kumfashini oxhunyaniswe ne-X okusho ukuthi ushintsho lofuzo luse-X chromosome. Kulokhu, umama angadlulisela lesi sifo emadodaneni akhe.
Ukwelapha
Ukuthungathwa: I- Red cell cell kanye ne-platelet transfusions zisetshenziselwa ukugcwalisa ukuhlinzeka njengoba umnkantsha wezintambo awukwazi ukukhiqiza imali evamile. Ukuguqulwa kusetshenziselwa ukuvimbela izimpawu ze-anemia (ukukhathala, ukukhathala) noma i-thrombocytopenia (ukuphuma).
I-Oxymetholone: i- Oxymetholone iyi-steroid ye-anabolic yomlomo engasetshenziselwa ukuthuthukisa izibalo ze-cell cell. Lokhu kuvame ukusetshenziselwa iziguli ezingenazo izingane zakini ezitholakalayo ukuze zithole amatsha abanike umongo.
Ukufakelwa kwe-bone marrow: Ukufakelwa komnyosa we-bone kungaba ukwelashwa kwe-pancytopenia, kodwa akunciphisi ingozi yomdlavuza. Imiphumela emihle ibonakala lapho kubanjwe abakwa-siblings kungaba ngabanikeli.
> Umthombo:
> I-Bertuch A. I-inflammation ye-aplastic inzalo ezinganeni nasebancane. Ku: UpToDate, Post, TW (Ed), UpToDate, Waltham, MA, 2016.