I-Fanconi anemia

I-Fanconi anemia sisifo esinqabileyo esidlulayo kwiintsapho (ezizuzwe njengelifa) ezichaphazela ikakhulu umongo wethambo. Iziphumo zokuhla kwemveliso yazo zonke iintlobo zeeseli zegazi.

Le yeyona nto ixhaphakileyo njenge-aplastic anemia.

I-Fanconi anemia yahlukile kwi-Fanconi syndrome, isifo esingaqhelekanga sezintso.

I-Fanconi anemia ibangelwa yimfuza engaqhelekanga eyonakalisa iiseli, ezigcina zingalungisi i-DNA eyonakeleyo.

Ukufumana ilifa i-Fanconi anemia, umntu kufuneka afumane ikopi enye yohlobo olungaqhelekanga kumzali ngamnye.

Imeko ihlala ifunyaniswa kubantwana abaphakathi kweminyaka emi-3 ukuya kweli-14 ubudala.

Abantu abane-Fanconi anemia banamanani asezantsi kunesiqhelo eeseli ezimhlophe zegazi, iiseli ezibomvu zegazi, kunye neeplatelets (iiseli ezinceda i-clot yegazi).

Azonelanga iiseli ezimhlophe zegazi ezinokukhokelela kusulelo. Ukungabikho kweeseli ezibomvu zegazi kunokubangela ukudinwa (i-anemia).

Inani elisezantsi kuneliqhelekileyo leeplatelet kunokubangela ukopha kakhulu.

Uninzi lwabantu abane-Fanconi anemia banezinye zeempawu:

• Intliziyo engaqhelekanga, imiphunga kunye neendlela zokugaya ukutya
• Iingxaki zamathambo (ngakumbi ihips, umqolo okanye iimbambo) zinokubangela umqolo ogoso (scoliosis)
• Utshintsho kumbala wolusu, njengeendawo ezimnyama zolusu, ezibizwa ngokuba yi-café au lait spots, kunye ne-vitiligo
• Ukungeva ngenxa yeendlebe ezingaqhelekanga
• Iingxaki zamehlo okanye zamehlo
• Izintso ezingakhange zenzeke ngokuchanekileyo
• Iingxaki ngeengalo nezandla, ezinje ngokulahleka, ukongeza okanye ukungalungelelanisi izithupha, iingxaki zezandla kunye nethambo elikwingalo esezantsi, kunye nethambo elincinci okanye elilahlekileyo kwingalo yangaphambili
• Ukuphakama okufutshane
• Intloko encinci
• Amasende amancinci kunye notshintsho kumalungu obuni

Ezinye iimpawu ezinokubakho:

• Ukungaphumeleli
• Ukukhubazeka kokufunda
• Ubunzima bokuzalwa obuphantsi
• Ukukhubazeka kwengqondo

Uvavanyo oluqhelekileyo lwe-Fanconi anemia lubandakanya:

• Umongo wethambo
• Gcwalisa ubalo lwegazi (CBC)
• Uvavanyo lophuhliso
• Amayeza afakwe kwisampulu yegazi ukukhangela umonakalo kwii-chromosomes
• Isandla se-x-reyi kunye nolunye uphononongo lwe-imaging (CT scan, MRI)
• Uvavanyo lokuva
• Ukuchwetheza kwezicubu ze-HLA (ukufumana abo banikelayo ngomongo wethambo)
• I-Ultrasound yezintso

Abafazi abakhulelweyo banokuba ne-amniocentesis okanye i-chorionic vampous sampling yokuchonga imeko kumntwana wabo ongekazalwa.

Abantu abanotshintsho lweeseli zegazi eziphakathi ukuya kumodareyitha abangayifuniyo intsholongwane banokufuna ukuhlolwa rhoqo kunye nokubalwa kwegazi. Umboneleli wokhathalelo lwempilo uya kumbeka esweni ngokusondeleyo lo mntu ezinye i-cancer. Oku kunokubandakanya i-leukemia okanye umhlaza wentloko, intamo, okanye inkqubo yokuchama.

Amayeza abizwa ngokuba yimibandela yokukhula (njenge-erythropoietin, G-CSF, kunye ne-GM-CSF) anokuliphucula ubalo lwegazi okwexeshana.

Ukufakelwa komongo wethambo kunokunyanga ukubala kwegazi kwi-Fanconi anemia. (Owona mnikeli womongo wethambo ungumzalwana okanye udade onohlobo lwethishu elihambelana nomntu ochaphazelekayo yiFanconi anemia.)

Abantu abaye baphumelela ukufakelwa umongo wethambo basadinga ukuhlolwa rhoqo ngenxa yomngcipheko wokongezwa komhlaza.

Unyango lweHormone ludibene namathamo asezantsi e-steroids (njenge-hydrocortisone okanye i-prednisone) emiselweyo kwabo bangenawo umnikeli womongo wethambo. Uninzi lwabantu luphendula kunyango lwehomoni. Kodwa wonke umntu onesifo uya kukhawuleza ukuba mandundu xa amayeza emisiwe. Kwiimeko ezininzi, la mayeza ekugqibeleni ayayeka ukusebenza.

Unyango olongezelelweyo lunokubandakanya:

• Amayeza okubulala iintsholongwane (kunokwenzeka ukuba anikwe ngomthambo) ukunyanga usulelo
• Ukumpontshelwa igazi ukunyanga iimpawu ngenxa yokubala okuphantsi kwegazi
• Isitofu sokugonya se-papilloma virus

Uninzi lwabantu abanale meko batyelela ugqirha rhoqo, ngokukodwa kunyango:

• Ukuphazamiseka kwegazi (hematologist)
• Izifo ezinxulumene namadlala (i-endocrinologist)
• Izifo zamehlo (ophthalmologist)
• Izifo zethambo (ugqirha wamathambo)
• Isifo sezintso (nephrologist)
• Izifo ezinxulumene namalungu okuzala amabhinqa kunye namabele (ugqirha wamazinyo)

Amanqanaba okusinda ayahluka ukusuka komnye umntu ukuya komnye. Imbonakalo ihlwempu kwabo banobalo lwegazi olusezantsi. Unyango olutsha kunye noluphuculweyo, njengokufakwa komongo wethambo, kusenokwenzeka ukuba kuphuculwe ukusinda.

Abantu abane-Fanconi anemia banamathuba okuphuhlisa iintlobo ezahlukeneyo zokuphazamiseka kwegazi kunye nomhlaza. Oku kunokubandakanya i-leukemia, i-myelodysplastic syndrome, kunye nomhlaza wentloko, intamo, okanye inkqubo yokuchama.

Abasetyhini abane-Fanconi anemia abakhulelweyo kufuneka bajongwe ngononophelo yingcali. Abafazi abanjalo bahlala befuna ukutofelwa igazi lonke ixesha lokukhulelwa.

Amadoda ane-Fanconi anemia anciphise ukuzala.

Iingxaki ze-Fanconi anemia zinokubandakanya:

• Ukungaphumeleli komongo wethambo
• Umhlaza wegazi
• Umhlaza wesibindi (zombini unobungozi kwaye unobungozi)

Iintsapho ezinembali yale meko zinokuba neengcebiso zemfuzo ukuqonda ngcono umngcipheko wazo.

Ugonyo lunokunciphisa iingxaki ezithile, kubandakanya i-pneumococcal pneumonia, hepatitis, kunye nosulelo lwe-varicella.

Abantu abane-Fanconi anemia kufuneka baphephe izinto ezibangela umhlaza (ii-carcinogens) kwaye bajonge rhoqo ukujonga umhlaza.

I-anemia yeFanconi; I-Anemia - iFanconi

• Izinto ezenziwe ngegazi

UGqr Y. I-syndromes ezizalwa njengelifa. Ku: Hoffman R, Benz EJ, Silberstein LE, et al, ii-eds. I-Hematology: Imigaqo esisiseko kunye nokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 29.

ULissauer T, uCarroll W. Haematological ukuphazamiseka. Ku: Lissauer T, Carroll W, ii-eds. Incwadi ebhaliweyo yemifanekiso yePediatrics. Umhla we-5. IPhiladelphia, PA: Elsevier; I-2018: isahluko 23.

IVlachos A, iLipton JM. Ukungaphumeleli komongo wethambo. Ku: Lanzkowsky P, Lipton JM, Fish JD, ii-eds. Incwadana yemigaqo kaLanzkowsky yePediatric Hematology kunye neOncology. Umhla wesi-6. IPhiladelphia, PA: Elsevier; 2016: isahl 8.