Fanconi Anemia ndi nthendayi yosawerengeka ya mafupa osagwidwa ndi mafupa omwe amadziwika ndi pancytopenia (maselo oyera a m'magazi oyera, maselo ofiira a m'magazi, ndi mapulateletti) ndi zosaoneka bwino. Kufalikira kuli kwakukulu pakati pa Ayuda a Ashkenazi, Aromani a ku Spain, ndi anthu akuda a ku South Africa. Sitiyenera kusokonezeka ndi Fanconi's syndrome, matenda a impso. Odwala ambiri amapezeka asanafike zaka 10.
Zizindikiro ndi Zizindikiro za Fanconi Anemia
Odwala oposa 50% ali ndi vuto lalikulu. Izi ziphatikizapo:
- Kusintha kwa khungu - mawanga osungunuka (kuwala kuposa khungu lozungulira) kapena malo odyera kanyumba (malo ofiira khofi)
- Mfupi yochepa
- Thumb zolakwika
- Zovuta za ubongo - kukula kwa mutu, kuwonjezeka kwa madzi m'bongo
- Impso zopanda pake kapena zopotoka
- Zosokonekera za chibadwa
- Kuchedwa kuchepetsa
Pamene maselo a magazi amatha, zizindikiro za pancytopenia zikhoza kukula.
- Kuonjezera kupweteka kapena kutaya magazi (chiwerengero chochepa cha platelet kapena thrombocytopenia )
- Kutopa, khungu loyera ( kuchepa kwa magazi )
- Fever, matenda (otsika white count kapena neutropenia )
Kudziwa khansa kungakhale koyamba kufotokoza. Anthu omwe ali ndi Fanconi Anemia ali ndi chiopsezo chowonjezeka chokhala ndi:
- Mitsempha Yambiri ya Myeloid Leukemia
- Myelodysplastic syndrome
- Mutu ndi khansa ya khansa
- Matenda a ubongo
- Matumbo a Wilms (khansa ya impso)
- Matenda a m'mimba (GI) khansa)
- Vulvar ndi khansara ya ana
Kudziwa
Ndondomeko ya kupezeka imatha kukhala yochepetsetsa, monga momwe kawirikawiri zimayambira pakapita nthawi.
Chiwerengero chochepa cha mapuloteni ndicho chizindikiro choyamba cha mavuto. Kenaka patapita nthawi, kuchepa kwa maselo oyera kumachepetsanso ndi kuchepa kwa magazi. Kutaya magazi m'thupi kumatanthauzidwa kuti macrocytic amatanthawuza kuti maselo ofiira ofiira ndi akuluakulu kuposa achibadwa. Zofufuza za ma laboratories pamodzi ndi zolakwika zakuthupi zomwe zafotokozedwa pamwambapa zikusonyeza Fanconi Anemia.
Odwala omwe ali ndi Fanconi Anemia amakhalanso ndi chiopsezo chachikulu chokhala ndi khansa. Khansa yomwe ikupereka pa msinkhu wodabwitsa ingakhale yoyamba kuwonetsa odwala ena. Komanso, zingatengedwe ngati mamembala ambiri a m'banja lomwelo akuyamba khansa.
Pamene Fanconi Anemia ikukayikiridwa, magazi amatumizidwa ku mayeso apadera a labotchedwa otchedwa chromosomal breakage. Mthendayi yamtundu wa Fanconi Anemia imalepheretsa ma chromosomes kuti athe kudzikonza okha bwinobwino kuti athe kuwonongeka kwa mafupa ndi khansa ali wamng'ono. Ngati mayeso a chromosomal breakage akugwirizana ndi Fanconi Anemia, mayesero achibadwa akhoza kutumizidwa. Kuwonjezera pa kutsimikizira za matendawa, izi zimathandiza kuti banja lidziwe zambiri zokhudza chiopsezo chokhala ndi ana ambiri omwe ali ndi vutoli.
Cholowa
Fanconi Manemia kawirikawiri imadutsa muzomwe zimayendera. Izi zikutanthauza kuti makolo onse awiri ayenera kukhala chonyamulira kuti mwana wawo akhale ndi matendawa. Muzochitikazi, makolo onse ndizowanyamula ndipo ali ndi mwayi umodzi mwa kukhala ndi mwana ndi Fanconi Anemia. Kawirikawiri, imadutsa mu mafashoni okhudzana ndi X omwe amatanthauza kuti kusintha kwa chibadwa kumakhala pa X chromosome. Pankhaniyi, mayi akhoza kupatsira ana ake matendawa.
Kuchiza
Kuwotcha: Magazi ofiira a magazi ndi mapiritsi apakhungu amagwiritsidwa ntchito kuti abwezeretse chakudya monga fupa la fupa silingathe kupanga chiwongoladzanja. Kuwotcha kumagwiritsidwa ntchito pofuna kupewa zizindikiro za kuchepa kwa magazi (kutopa, kutopa) kapena thrombocytopenia (kutuluka magazi).
Oxymetholone: Oxymetholone ndi oral anabolic steroid yomwe ingagwiritsidwe ntchito pokonzetsa maselo a maselo a magazi. Izi kawirikawiri zimagwiritsidwa ntchito kwa odwala omwe alibe abale omwe amapezeka kuti akhale operekera ndalama.
Kusakaniza mafupa a mafupa: Kugwiritsidwa ntchito kwa mafupa a mafupa kungakhale kochepetsetsa pa pancytopenia, koma sikuchepetsa moyo wonse wa khansa. Zotsatira zabwino kwambiri zikuwoneka pamene ofanana ndi achibale anu angakhale opereka.
> Chitsime:
> Bertuch A. Cholowa cha maselo otsekula m'mimba mwa ana ndi achinyamata. Mu: UpToDate, Post, TW (Ed), UpToDate, Waltham, MA, 2016.