I-Fibrodysplasia ossificans progressiva (FOP): yintoni, iimpawu kunye nonyango

Umxholo

• Iimpawu eziphambili
• Yintoni ebangela i-fibrodysplasia
• Indlela yokuqinisekisa ukuxilongwa
• Unyango lwenziwa njani

I-Fibrodysplasia ossificans progressiva, ekwabizwa ngokuba yi-FOP, i-myositis ossificans eqhubekayo okanye i-Stone Man syndrome, sisifo esinqabileyo kakhulu semfuza esibangela izicubu zomzimba ezithambileyo, ezinje ngemisipha, imisipha kunye nezihlunu, ukuba ziqine, zibe nzima kwaye zithintele ukunyakaza komzimba. Ukongeza, le meko inokubangela notshintsho lomzimba.

Kwiimeko ezininzi iimpawu zivela ngexesha lobuntwana, kodwa ukutshintsha kwezicubu kwithambo kuyaqhubeka de kube mdala, ubudala apho isifo senziwe khona bunokwahluka. Nangona kunjalo, zininzi iimeko apho, ekuzalweni, umntwana sele eneziphene kwiinzwane okanye kwiimbambo ezinokuthi zikhokelele kugqirha wabantwana ukuba asirhanele isifo.

Nangona kungekho lunyango lwe-fibrodysplasia ossificans progressiva, kubalulekile ukuba umntwana ahlala ekhatshwa ngugqirha wabantwana kunye nogqirha wamazinyo, kuba kukho iindlela zonyango ezinokunceda ekuthomalaliseni ezinye iimpawu, ezinje ngokudumba okanye ukudibana kwentlungu, ukuphucula umgangatho yobomi.

Iimpawu eziphambili

Iimpawu zokuqala ze-fibrodysplasia ossificans progressiva zihlala zivela kwakamsinya emva kokuzalwa kunye nobukho bokungalunganga kwiinzwane, umqolo, amagxa, inyonga kunye namalungu.

Ezinye iimpawu zihlala zibonakala de kube yiminyaka engama-20 kwaye zibandakanya:

• Ukudumba okubomvu emzimbeni wonke, okuthi shwaka kodwa kushiye ithambo endaweni yalo;
• Ukukhula kwamathambo kwiindawo zokubetha;
• Kancinci kancinci ukushukumisa izandla, iingalo, imilenze okanye iinyawo;
• Iingxaki zokuhamba kwegazi emilenzeni.

Ukongeza, kuxhomekeke kwimimandla echaphazelekayo, kuyinto eqhelekileyo ukukhulisa iingxaki zentliziyo okanye zokuphefumla, ngakumbi xa kusenzeka rhoqo usulelo lokuphefumla.

I-Fibrodysplasia ossificans progressiva ihlala ichaphazela intamo kunye namagxa kuqala, emva koko iqhubekele ngasemva, esiqwini nasemilenzeni.

Nangona esi sifo sinokubangela ukusikelwa umda ngokuhamba kwexesha kunye nokwehla okumangalisayo kumgangatho wobomi, ixesha lokuphila lihlala lide, kuba kuhlala kungekho zingxaki zinkulu zisongela ubomi.

Yintoni ebangela i-fibrodysplasia

Isizathu esithile se-fibrodysplasia ossificans progressiva kunye nenkqubo apho izicwili zijika zibe lithambo azikaziwa kakuhle, nangona kunjalo, esi sifo sivela ngenxa yokutshintsha kwemfuza kwi-chromosome 2. Nangona olu tshintsho lunokudlula lusuka kubazali luye ebantwaneni, kuqhelekile ukuba esi sifo sivela ngokungacwangciswanga.

Kutshanje, ukwanda kokubonakaliswa kwethambo le-4 morphogenetic protein (BMP 4) kwii-fibroblast ezikhoyo kwizilonda zokuqala ze-FOP zichaziwe. Iprotein ye-BMP 4 ibekwe kwi-chromosome 14q22-q23.

Indlela yokuqinisekisa ukuxilongwa

Kuba kubangelwa lutshintsho lwemfuza kwaye akukho luvavanyo oluthile lokufumanisa oku, ukuxilongwa kuhlala kwenziwa ngugqirha wabantwana okanye ugqirha wamazinyo, ngokuvavanya iimpawu kunye nohlalutyo lwembali yezonyango yomntwana. Kungenxa yokuba ezinye iimvavanyo, ezinje nge-biopsy, zibangela ukwenzakala okuncinci okunokukhokelela kuphuhliso lwethambo kwisiza esivavanyiweyo.

Rhoqo, ukufunyanwa kokuqala kwale meko bubukho bezicubu kumathishu athambileyo omzimba, athi ngokuthe ngcembe anciphise ubungakanani kunye nokwanda.

Unyango lwenziwa njani

Alukho uhlobo lonyango olunokunyanga esi sifo okanye sithintele ukukhula kwalo, ke ngoko, kuyinto eqhelekileyo kwizigulana ezininzi ukugcinwa kwisitulo esinamavili okanye ukulala emva kweminyaka engama-20 ubudala.

Xa kuvela izifo zokuphefumla, ezinje ngomkhuhlane okanye umkhuhlane, kubaluleke kakhulu ukuba uye esibhedlele kanye emva kwempawu zokuqala unyango kunye nokuphepha ukubakho kweengxaki ezinkulu kula malungu. Ukongeza, ukugcina ucoceko lomlomo olufanelekileyo kuphepha isidingo sonyango lwamazinyo, olunokubangela iingxaki zamathambo ezintsha, ezinokukhawulezisa isingqisho sesi sifo.

Nangona zilinganiselwe, kubalulekile ukukhuthaza ukuzonwabisa kunye nokunxibelelana nabantu abanesifo, kuba ubuchule babo bengqondo kunye nonxibelelwano buhlala buhleli kwaye bukhula.