Fanconi anemia

Fanconi anemia chirwere chisingawanzoitika chakapfuudzwa kuburikidza nemhuri (chakagara nhaka) icho chinonyanya kubata pfupa remongo. Izvo zvinoguma nekuderera kwekugadzirwa kwemhando dzese dzemasero eropa.

Iyi ndiyo yakajairwa nhaka fomu yeaplastic anemia.

Fanconi kupererwa neropa kwakasiyana neFanconi syndrome, chisingawanzoitika itsvo kusagadzikana.

Fanconi anemia inokonzerwa neyakajairika jeni rinokuvadza maseru, rinovadzivirira kubva pakugadzirisa yakakuvara DNA.

Kuti ugare nhaka Fanconi kupererwa neropa, munhu anofanirwa kuwana kopi imwe yeakajairika geni kubva kumubereki wega wega.

Mamiriro acho anowanzoonekwa muvana vari pakati pemakore matatu negumi nemana ekuberekwa.

Vanhu vane Fanconi anemia vane yakaderera-kupfuura-yakajairwa nhamba yemasero eropa machena, masero matsvuku eropa, uye maplatelet (maseru anobatsira iro ropa kuvhara).

Haina kukwana masero machena eropa anogona kutungamira kuzvirwere. Kushaikwa kwemasero matsvuku eropa kunogona kukonzera kuneta (kupererwa neropa).

Iyo yakaderera-kupfuura-yakajairwa maplatelet inogona kutungamira mukuwedzera kubuda ropa.

Vanhu vazhinji vane Fanconi anemia vane zvimwe zvezviratidzo izvi:

• Asina kujairika moyo, mapapu, uye kugaya nzira
• Matambudziko emapfupa (kunyanya chiuno, musana kana mbabvu) zvinogona kukonzera musana wakakombama (scoliosis)
• Shanduko muvara reganda, senzvimbo dzakasviba dzeganda, inonzi café au lait spots, uye vitiligo
• Matsi nekuda kwenzeve dzisina kujairika
• Matambudziko eziso kana eyelid
• Itsvo dzisina kuumbwa zvakanaka
• Zvinetso nemaoko nemaoko, sekushayikwa, kuwedzerwa kana kusasanganisa zvigunwe, matambudziko emaoko uye bhonzo riri muzasi ruoko, uye diki kana kushaya pfupa kumberi
• Kureba kupfupi
• Musoro mudiki
• Matete madiki uye shanduko yesikarudzi

Zvimwe zviratidzo zvinogona kuitika:

• Kutadza kubudirira
• Kudzidza kuremara
• Kurema kwekuzvarwa uremu
• Urema hwekuziva

Kwakajairwa bvunzo dzeFanconi anemia inosanganisira:

• Bone marora bhiopsy
• Yakazara kuverenga ropa (CBC)
• Kubudirira bvunzo
• Mishonga yakawedzerwa kumuenzaniso weropa kutarisa kukuvara kwemakromosomes
• Ruoko x-ray uye zvimwe zvidzidzo zvekufungidzira (CT scan, MRI)
• Kunzwa bvunzo
• HLA kudhinda matipi (kutsvaga vakaenzana vapfupa-mwongo vabatsiri)
• Ultrasound yeitsvo

Vakadzi vane nhumbu vanogona kuve neamniocentesis kana chorionic villous sampling kuti vaongorore mamiriro ari mumwana wavo asati aberekwa.

Vanhu vane hunyoro kusvika pakati nepakati masero eropa shanduko vasingade kuwedzerwa vanogona kungoda kuongororwa nguva nenguva uye kuongororwa kweropa kuongororwa. Anopa hutano anonyatso tarisa munhu wacho kune mamwe kanzira. Izvi zvinogona kusanganisira leukemia kana kanzira yemusoro, mutsipa, kana weti system.

Mishonga inonzi yekukura zvinhu (senge erythropoietin, G-CSF, uye GM-CSF) inogona kusimudzira kuwanda kweropa kwenguva pfupi.

Kuiswa kwemongo wemapfupa kunogona kurapa matambudziko ehuwandu hweropa eFanconi anemia. (Iyo yakanakisa yemongo wemabhiza mupi ihama kana hanzvadzi ine mhando yenyama inoenderana nemunhu akabatwa neFanconi anemia.)

Vanhu vakave nekubudirira kupfupa kwemongo wefupa vachiri kuda kuongororwa nguva nenguva nekuda kwenjodzi yekuwedzera cancer.

Hormone therapy inosanganisirwa neyepasi doses yeasteroids (senge hydrocortisone kana prednisone) inorayirwa kune avo vasina mupi wemongo. Vanhu vazhinji vanopindura kurapwa kwehomoni. Asi munhu wese ane chirwere achakurumidza kuwedzera kana mishonga ikamiswa. Muzviitiko zvakawanda, mishonga iyi inozomira kushanda.

Zvimwe zvekurapa zvinogona kusanganisira:

• Mishonga inorwisa mabhakitiriya (inogona kupihwa kuburikidza netsinga) kurapa hutachiona
• Ropa kuwedzerwa kurapa zviratidzo nekuda kwekudzikira kweropa kuverenga
• Mushonga wevapilloma hutachiona

Vanhu vazhinji vane chirwere ichi vanoshanyira chiremba nguva dzose, vachinyanya kurapa:

• Dambudziko reropa (hematologist)
• Zvirwere zvine hukama nematinji (endocrinologist)
• Zvirwere zvemaziso (ophthalmologist)
• Zvirwere zvepfupa (orthopedist)
• Hosha yeitsvo (nephrologist)
• Zvirwere zvine hukama nemitezo yekuberekera yechikadzi uye mazamu (gynecologist)

Kupona kwehuwandu kunosiyana kubva pamunhu kumunhu. Iko kutaridzika kwakashata kune avo vane yakaderera ropa kuverenga. Mishonga mitsva uye yakagadziridzwa, yakadai sekushandurwa kwemongo wemapfupa, inogona kunge yakavandudza kupona.

Vanhu vane Fanconi anemia vane mukana wekuvandudza mhando dzinoverengeka dzekushushikana kweropa nekenza. Izvi zvinogona kusanganisira leukemia, myelodysplastic syndrome, uye gomarara remusoro, mutsipa, kana weti system.

Vakadzi vane Fanconi anemia vanove nepamuviri vanofanirwa kutariswa nekuchenjera nenyanzvi. Vakadzi vakadaro vanowanzoda kuwedzerwa ropa panguva yese yepamuviri.

Varume vane Fanconi anemia vadzikira kubereka.

Zvinetso zveFanconi anemia zvinogona kusanganisira:

• Kutadza kwemongo
• Kenza yeropa
• Chiropa chegomarara (zvese zvakaipa uye zvakaipa)

Mhuri dzine nhoroondo yeichi chiitiko dzinogona kuve nemazera ekuraira kuti vanzwisise zviri nani njodzi yavo.

Kubaya nhomba kunogona kudzikisira zvimwe zvinonetsa, zvinosanganisira pneumococcal pneumonia, hepatitis, uye varicella hutachiona.

Vanhu vane Fanconi anemia vanofanirwa kudzivirira zvinhu zvinokonzeresa zvegomarara (carcinogens) uye kugara vachiongorora kuti vaone cancer.

Fanconi's kupererwa neropa; Anemia - Fanconi's

• Akaumba zvinhu zveropa

Dror Y. Yakagara nhaka pfupa kutadza ma syndromes. Muna: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Misimboti uye Maitiro. 7th ed. Philadelphia, PA: Elsevier; 2018: chitsiko 29.

Lissauer T, Carroll W. Haematological matambudziko. Mune: Lissauer T, Carroll W, eds. Yakafananidzirwa Rugwaro rwePaediatrics. 5 ed. Philadelphia, PA: Elsevier; 2018: chits. 23.

Vlachos A, Lipton JM. Kutadza kwemongo wefupa. Mune: Lanzkowsky P, Lipton JM, Hove JD, eds. Lanzkowsky's Chinyorwa chePediatric Hematology uye Oncology. 6th ed. Philadelphia, PA: Elsevier; 2016: chits. 8.