I-Fanconi anemia

I-Fanconi anemia yisifo esingajwayelekile esidluliselwa emindenini (ezuzwe njengefa) esithinta kakhulu umnkantsha wethambo. Umphumela wokwehla kokukhiqizwa kwazo zonke izinhlobo zamaseli egazi.

Le ndlela ejwayelekile ezuzwe njengefa ye-aplastic anemia.

I-Fanconi anemia ihlukile kwi-Fanconi syndrome, isifo esingajwayelekile sezinso.

I-Fanconi anemia ingenxa yesakhi esingajwayelekile esilimaza amaseli, esiwagcina ekulungiseni i-DNA elimele.

Ukuzuza njengefa le-Fanconi anemia, umuntu kufanele athole ikhophi eyodwa yesakhi esingajwayelekile kumzali ngamunye.

Isimo sitholakala kakhulu ezinganeni ezineminyaka ephakathi kwemithathu nengu-14 ubudala.

Abantu abane-Fanconi anemia banezinombolo ezingaphansi kokujwayelekile zamaseli amhlophe egazi, amaseli abomvu egazi, nama-platelets (amaseli asiza i-clot yegazi).

Awanele amaseli egazi amhlophe angaholela ezifweni. Ukuntuleka kwamaseli abomvu kungaholela ekukhathaleni (i-anemia).

Inani eliphansi kunokujwayelekile leplatelet lingaholela ekopheni ngokweqile.

Iningi labantu abane-Fanconi anemia banezinye zalezi zimpawu:

• Inhliziyo engajwayelekile, amaphaphu, kanye nomgudu wokugaya ukudla
• Izinkinga zamathambo (ikakhulukazi amahips, umgogodla noma izimbambo) zingadala umgogodla ogobile (scoliosis)
• Izinguquko embala wesikhumba, njengezindawo ezimnyama zesikhumba, ezibizwa nge-café au lait spots, ne-vitiligo
• Ukungezwa ngenxa yezindlebe ezingavamile
• Izinkinga zamehlo noma ijwabu leso
• Izinso ezingakhekanga kahle
• Izinkinga ngezingalo nezandla, njengokulahleka, okungeziwe noma okungafakwanga kahle izithupha, izinkinga zezandla kanye nethambo engalweni engezansi, nethambo elincane noma elilahlekile engalweni
• Ukuphakama okufushane
• Ikhanda elincane
• Amasende amancane nezinguquko ezithweni zangasese

Ezinye izimpawu ezingaba khona:

• Ukwehluleka ukuchuma
• Ukukhubazeka kokufunda
• Isisindo sokuzalwa esiphansi
• Ukukhubazeka kwengqondo

Ukuhlolwa okuvamile kwe-Fanconi anemia kufaka:

• I-bone marrow biopsy
• Qedela ukubalwa kwegazi (CBC)
• Ukuhlolwa kokuthuthuka
• Imithi engezwe kusampula yegazi ukuhlola ukonakala kwama-chromosomes
• I-x-ray yesandla nezinye izifundo ze-imaging (i-CT scan, i-MRI)
• Ukuhlolwa kokuzwa
• Ukuthayipha kwezicubu ze-HLA (ukuthola abanikeli bamathambo afanayo)
• I-Ultrasound yezinso

Abesifazane abakhulelwe bangaba ne-amniocentesis noma i-chorionic vampous sampling ukuthola isimo enganeni yabo engakazalwa.

Abantu abanoshintsho kumaseli egazi emnene kuya kokulingene abangadingi ukumpontshelwa bangadinga kuphela ukuhlolwa njalo nokuhlolwa kwesibalo segazi. Umhlinzeki wezokunakekelwa kwempilo uzomqapha ngeso lokhozi lowo muntu eminye imidlavuza. Lokhu kungafaka i-leukemia noma umdlavuza wekhanda, intamo, noma uhlelo lokuchama.

Imithi ebizwa ngokuthi yizinto zokukhula (njenge-erythropoietin, G-CSF, ne-GM-CSF) ingathuthukisa ukubalwa kwegazi isikhashana.

Ukufakelwa komnkantsha kungaphulukisa izinkinga zesibalo segazi se-Fanconi anemia. (Umnikeli womnkantsha ongcono kakhulu ngumzalwane noma udade onohlobo lwethishu lakhe olufana nomuntu othinteke yi-Fanconi anemia.)

Abantu abathole ukufakelwa umnkantsha ngempumelelo basadinga ukuhlolwa njalo ngenxa yengozi yamanye umdlavuza.

Ukwelashwa kweHormone kuhlanganiswe nemithamo ephansi ye-steroids (njenge-hydrocortisone noma i-prednisone) kunqunyelwe labo abangenawo umnikeli womnkantsha. Iningi labantu liphendula ekwelashweni kwehomoni. Kepha wonke umuntu onalesi sifo uzokonakala ngokushesha lapho imiswa imithi. Ezimweni eziningi, le mithi ekugcineni iyeka ukusebenza.

Ukwelashwa okungeziwe kungabandakanya:

• Ama-antibiotic (okungenzeka anikezwe ngomthambo) ukwelapha izifo
• Ukumpontshelwa igazi ukwelapha izimpawu ngenxa yokubalwa kwegazi okuphansi
• Umuthi wokugomela i-human papilloma virus

Iningi labantu abanalesi simo livakashela udokotela njalo, onguchwepheshe ekwelapheni:

• Ukuphazamiseka kwegazi (i-hematologist)
• Izifo ezihlobene nezindlala (i-endocrinologist)
• Izifo zamehlo (ophthalmologist)
• Izifo zamathambo (i-orthopedist)
• Isifo sezinso (nephrologist)
• Izifo ezihlobene nezitho zokuzala zabesifazane namabele (wezifo zabesifazane)

Izinga lokusinda liyahluka kuye ngomuntu nomuntu. Umbono mubi kulabo abanezibalo eziphansi zegazi. Ukwelashwa okusha nokwenziwe ngcono, njengokufakwa komnkantsha wethambo, kungenzeka kuthuthukise ukusinda.

Abantu abane-Fanconi anemia banamathuba amaningi okuthuthukisa izinhlobo eziningana zokuphazamiseka kwegazi nomdlavuza. Lokhu kungafaka i-leukemia, i-myelodysplastic syndrome, nomdlavuza wekhanda, wentamo, noma we-urinary system.

Abesifazane abane-Fanconi anemia abakhulelwa kufanele babhekwe ngokucophelela nguchwepheshe. Abesifazane abanjalo kaningi badinga ukumpontshelwa phakathi nokukhulelwa.

Amadoda ane-Fanconi anemia anciphise ukuzala.

Izinkinga ze-Fanconi anemia zingafaka:

• Ukwehluleka komnkantsha wethambo
• Umdlavuza wegazi
• Umdlavuza wesibindi (womabili awubungozi futhi awubi)

Imindeni enomlando walesi simo ingaba nokwelulekwa ngezakhi zofuzo ukuqonda kangcono ubungozi bayo.

Ukugonywa kunganciphisa izinkinga ezithile, kufaka phakathi i-pneumococcal pneumonia, hepatitis, kanye ne-varicella izifo.

Abantu abane-Fanconi anemia kufanele bagweme izinto ezibanga umdlavuza (carcinogens) futhi bahlolwe njalo ukuze bahlolwe umdlavuza.

I-anemia kaFanconi; Ukushoda kwegazi - iFanconi’s

• Izakhi ezakhiwe zegazi

UDkt Y. Izindlalifa zokwehluleka komnkantsha ezuzwe njengefa. Ku: Hoffman R, Benz EJ, Silberstein LE, et al, ama-eds. I-Hematology: Izimiso Eziyisisekelo Nokuzijwayeza. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 29.

ULissauer T, uCarroll W. Haematological ukuphazamiseka. Ku: Lissauer T, Carroll W, ama-eds. I-Illustrated Textbook of Paediatrics. Umhlaka 5. IPhiladelphia, PA: Elsevier; 2018: isahluko 23.

IVlachos A, iLipton JM. Ukwehluleka komnkantsha wethambo. Ku: Lanzkowsky P, Lipton JM, Fish JD, eds. Incwadi kaLanzkowsky yePediatric Hematology ne-Oncology. Umhlaka 6. IPhiladelphia, PA: Elsevier; 2016: isahluko 8.