I-Fibrodysplasia ossificans progressiva (FOP): kuyini, izimpawu nokwelashwa

-Delile

• Izimpawu eziyinhloko
• Yini ebangela i-fibrodysplasia
• Ungakuqinisekisa kanjani ukuxilongwa
• Yelashwa kanjani

I-Fibrodysplasia ossificans progressiva, eyaziwa nangokuthi i-FOP, i-progressive myositis ossificans noma i-Stone Man syndrome, iyisifo esingavamile kakhulu sezakhi zofuzo esibangela izicubu ezithambile zomzimba, njengemigudu, imisipha nemisipha, ukuba zikhulise, zibe nzima futhi zivimbele ukunyakaza komzimba. Ngaphezu kwalokho, lesi simo singadala nezinguquko emzimbeni.

Ezimweni eziningi izimpawu zivele ngesikhathi sobuntwana, kepha ukuguqulwa kwezicubu zibe amathambo kuyaqhubeka kuze kube mdala, iminyaka lapho kutholakala khona ukuxilongwa ingahluka. Kodwa-ke, kunamacala amaningi lapho, lapho izalwa, ingane isivele inezinkinga zezinzwane noma izimbambo ezingadala udokotela wezingane ukuthi asole lesi sifo.

Yize lungekho ikhambi le-fibrodysplasia ossificans progressiva, kubalulekile ukuthi ingane ihlale ihambisana nodokotela wezingane nodokotela wamazinyo, njengoba kunezinhlobo zokwelashwa ezingasiza ekunciphiseni ezinye izimpawu, njengokuvuvukala noma ubuhlungu bamalunga, ukuthuthukisa ikhwalithi wempilo.

Izimpawu eziyinhloko

Izimpawu zokuqala ze-fibrodysplasia ossificans progressiva zivame ukuvela kungekudala ngemuva kokuzalwa lapho kutholakala khona ukungalungi kuzwane, umgogodla, amahlombe, izinqe kanye namalunga.

Ezinye izimpawu zivame ukuvela kuze kube yiminyaka engama-20 futhi zifaka:

• Ukuvuvukala okubomvu emzimbeni wonke, okunyamalalayo kodwa kushiye ithambo endaweni yalo;
• Ukuthuthukiswa kwamathambo ezindaweni zokushaywa unhlangothi;
• Kancane kancane ubunzima bokuhambisa izandla, izingalo, imilenze noma izinyawo;
• Izinkinga zokujikeleza kwegazi emilenzeni.

Ngaphezu kwalokho, kuya ngezindawo ezithintekile, kujwayelekile futhi ukuba nezinkinga zenhliziyo noma zokuphefumula, ikakhulukazi lapho kuvela izifo zokuphefumula njalo.

I-Fibrodysplasia ossificans progressiva imvamisa ithinta intamo namahlombe kuqala, bese iqhubekela emuva, esiqwini nasemilenzeni.

Yize lesi sifo singadala ukulinganiselwa okuningana ngokuhamba kwesikhathi futhi sinciphise ngokweqile ikhwalithi yempilo, isikhathi sokuphila sivame ukuba side, ngoba imvamisa azikho izinkinga ezinzima kakhulu ezingasongela impilo.

Yini ebangela i-fibrodysplasia

Imbangela ethile ye-fibrodysplasia ossificans progressiva kanye nenqubo izicubu eziphenduka zibe ngamathambo ayikaziwa kahle, noma kunjalo, lesi sifo sivela ngenxa yokuguquka kofuzo ku-chromosome 2. Yize lokhu kuguquka kungadlula kusuka kubazali kuye ezinganeni, kuvame kakhulu ukuthi lesi sifo sivela ngokungahleliwe.

Muva nje, kuchazwe ukubonakaliswa kwethambo le-4 morphogenetic protein (BMP 4) kuma-fibroblasts akhona ezilonda zokuqala ze-FOP. Iprotein ye-BMP 4 itholakala ku-chromosome 14q22-q23.

Ungakuqinisekisa kanjani ukuxilongwa

Njengoba kubangelwa ukuguqulwa kofuzo futhi akukho ukuhlolwa okukhethekile kofuzo kulokhu, ukuxilongwa kuvame ukwenziwa udokotela wezingane noma udokotela wamathambo, ngokuhlola izimpawu nokuhlaziywa komlando womtholampilo wengane. Lokhu kungenxa yokuthi ezinye izivivinyo, njenge-biopsy, zidala ukuhlukumezeka okuncane okungaholela ekwakhekeni kwethambo kusayithi elihloliwe.

Imvamisa, ukutholwa kokuqala kwalesi simo ubukhona besixuku ezicubwini ezithambile zomzimba, ezincipha kancane ngosayizi futhi zenze lula.

Yelashwa kanjani

Alukho uhlobo lokwelashwa olukwazi ukwelapha lesi sifo noma ukuvimbela ukukhula kwaso, ngakho-ke, kujwayelekile kakhulu ezigulini eziningi ukuthi zihlale esihlalweni sabakhubazekile noma zilale ngemuva kweminyaka engama-20 ubudala.

Lapho kuvela izifo zokuphefumula, ezifana nemikhuhlane noma umkhuhlane, kubaluleke kakhulu ukuya esibhedlela ngemuva nje kwezimpawu zokuqala ukuqala ukwelashwa nokugwema ukubakhona kwezinkinga ezinkulu kulezi zitho. Ngaphezu kwalokho, ukugcina ukuhlanzeka okuhle ngomlomo futhi kugwema isidingo sokwelashwa kwamazinyo, okungaholela ezinkingeni ezintsha zokwakheka kwamathambo, ezingasheshisa isigqi sesifo.

Yize zilinganiselwe, kubalulekile futhi ukukhuthaza imisebenzi yokuzilibazisa nokuzijabulisa yabantu abanalesi sifo, ngoba amakhono abo obuhlakani nezokuxhumana ahlala engaguquki futhi ethuthuka.