Fibrodysplasia ossificans progressiva (FOP): ndi chiyani, zizindikiro ndi chithandizo

Zamkati

• Zizindikiro zazikulu
• Zomwe zimayambitsa fibrodysplasia
• Momwe mungatsimikizire matendawa
• Momwe mankhwalawa amachitikira

Fibrodysplasia ossificans progressiva, yemwenso amadziwika kuti FOP, progressive myositis ossificans kapena Stone Man syndrome, ndi matenda osowa kwambiri amtundu omwe amachititsa kuti minofu yofewa ya thupi, monga mitsempha, tendon ndi minofu, ikule, kukhala yolimba ndikulepheretsa kuyenda kwa thupi. Kuphatikiza apo, vutoli limathanso kusintha thupi.

Nthawi zambiri zizindikirazo zimawonekera ali mwana, koma kusintha kwaminyewa kukhala mafupa kumapitilira mpaka munthu wamkulu, zaka zomwe matendawa amapangidwira zimatha kusiyanasiyana. Komabe, pali milandu yambiri yomwe, pobadwa, mwanayo amakhala ndi zolakwika zala zakumapazi kapena nthiti zomwe zitha kupangitsa adotolo kukayikira matendawa.

Ngakhale kulibe mankhwala a fibrodysplasia ossificans progressiva, ndikofunikira kuti mwanayo azikhala limodzi ndi dokotala wa ana komanso wamankhwala, chifukwa pali mitundu ya chithandizo yomwe ingathandize kuthetsa zizindikilo zina, monga kutupa kapena kupweteka kwamagulu, kukonza mtundu za moyo.

Zizindikiro zazikulu

Zizindikiro zoyamba za fibrodysplasia ossificans progressiva nthawi zambiri zimawonekera atangobadwa kumene ndikupanga zolakwika zakumapazi, msana, mapewa, chiuno ndi malo.

Zizindikiro zina nthawi zambiri zimawoneka mpaka zaka 20 ndipo zimaphatikizapo:

• Kutupa kofiyira thupi lonse, komwe kumatha koma kumasiya fupa;
• Kukula kwa mafupa m'malo am'mimba;
• Pang'ono ndi pang'ono kusuntha kwa manja, mikono, miyendo kapena mapazi;
• Mavuto oyenda m'magazi.

Kuphatikiza apo, kutengera madera omwe akhudzidwa, zimakhalanso zachilendo kukhala ndi vuto la mtima kapena kupuma, makamaka pakakhala matenda opuma pafupipafupi.

Fibrodysplasia ossificans progressiva nthawi zambiri imakhudza khosi ndi mapewa poyamba, kenako imapita kutsogolo, thunthu ndi miyendo.

Ngakhale matendawa amatha kuyambitsa zovuta zingapo pakapita nthawi ndikuchepetsa kwambiri moyo, chiyembekezo cha moyo nthawi zambiri chimakhala chachitali, chifukwa nthawi zambiri pamakhala zovuta zazikulu zomwe zitha kupha moyo.

Zomwe zimayambitsa fibrodysplasia

Zomwe zimayambitsa fibrodysplasia ossificans progressiva komanso momwe matupi amasandulika mafupa sizikudziwika, komabe, matendawa amabwera chifukwa cha kusintha kwa majini pa chromosome 2. Ngakhale kusintha kumeneku kumatha kuchokera kwa makolo kupita kwa ana, ndizofala kwambiri kuti nthendayo imangowonekera mwangozi.

Posachedwa, kuwonjezeka kwa mafupa a 4 morphogenetic protein (BMP 4) mu ma fibroblasts omwe amapezeka m'matenda oyambira a FOP afotokozedwa. Puloteni ya BMP 4 ili pa chromosome 14q22-q23.

Momwe mungatsimikizire matendawa

Popeza zimayambitsidwa ndi kusintha kwa majini ndipo palibe mayeso amtundu wa izi, matendawa amapangidwa ndi dokotala wa ana kapena wamankhwala, kudzera pakuwunika zizindikilo ndikuwunika mbiri yazachipatala ya mwanayo. Izi ndichifukwa choti mayeso ena, monga biopsy, amayambitsa zoopsa zazing'ono zomwe zingayambitse kukula kwa fupa patsamba lomwe lidayesedwa.

Nthawi zambiri, kupezeka koyamba kwa vutoli ndi kupezeka kwa unyinji m'matumba ofewa amthupi, omwe amacheperachepera pang'onopang'ono ndikukula.

Momwe mankhwalawa amachitikira

Palibe mankhwala omwe angachiritse matendawa kapena kulepheretsa kukula kwake, chifukwa chake, ndizofala kwambiri kuti odwala ambiri amangokhala pa njinga ya olumala kapena kugona atakwanitsa zaka 20.

Matenda opuma akawonekera, monga chimfine kapena chimfine, ndikofunikira kwambiri kupita kuchipatala pambuyo pazizindikiro zoyambirira kuti mukayambe chithandizo ndikupewa kupezeka kwamavuto akulu m'ziwalozi. Kuphatikiza apo, kukhala ndi ukhondo wabwino pakamwa kumapewa kufunikira kwa chithandizo cha mano, zomwe zimatha kubweretsa zovuta zatsopano zopanga mafupa, zomwe zimatha kupititsa patsogolo matendawo.

Ngakhale ndizochepa, ndikofunikanso kulimbikitsa zosangalatsa ndi zochitika kwa anthu omwe ali ndi matendawa, popeza luso lawo lanzeru komanso kulumikizana limakhalabe lolimba.