Uke wezwa ngesifo esingavamile esiguqula inyama yakho ibe yithambo? Ake sixoxe nge-Fibrodysplasia Ossificans Progressiva (FOP).

Namuhla sizokhuluma ngesimo esingajwayelekile nesingavamile kakhulu. Cabanga nje, kuthiwani uma imisipha emzimbeni wakho, okungukuthi, inyama, iphenduka kancane kancane ibe amathambo, okungukuthi, amathambo? Kuyamangaza ukuzwa, akunjalo? Lesi simo sibizwa ngokuthi i-Fibrodysplasia Ossificans Progressiva, odokotela abasibiza ngokuthi i-FOP (Fibrodysplasia Ossificans Progressiva) . Lokhu kuyinkimbinkimbi kakhulu futhi kunethonya elikhulu. Ngakho-ke ake sixoxe ngakho kalula, ngendlela ongayiqonda.

Kuyini i-FOP? Kalula nje...

I-FOP (i-Fibrodysplasia Ossificans Progressiva) yisimo sofuzo . Okwenzekayo ukuthi imisipha nezicubu ezixhumene emzimbeni wethu, njengemisipha nemisipha, kancane kancane ziphenduka ithambo. Into ebalulekile ukuthi leli thambo elisha lakheke *ngaphandle* kwethambo lethu. Kufana nohlaka lwesibili olukhula ngaphakathi emzimbeni.

Lokhu kwakheka kwamathambo okungavamile kancane kancane kunciphisa ububanzi bokunyakaza komzimba. Ngokuhamba kwesikhathi, kungaba nzima ukuhamba, ukugijima, noma ukugxuma, futhi kungenza kube nzima nokunyakaza kwezitho zomzimba. Lezi zimpawu zivame ukuqala ebuntwaneni . Ziqala ukubonakala ezindaweni ezifana nentamo namahlombe, bese zisakazekela emzimbeni ongezansi.

Lesi simo saqala ukuqashelwa odokotela ngekhulu le-17 nele-18. Kamuva sabizwa ngokuthi "i-myositis ossificans progressiva" (imisipha iphenduka kancane kancane ibe yithambo). Kodwa-ke, ucwaningo lwakamuva, ikakhulukazi olukaDkt. Victor Maciusik waseJohns Hopkins University, lwaholela egameni elithi Fibrodysplasia Ossificans Progressiva (Fibrodysplasia Ossificans Progressiva) , njengoba sasingathinteli nje kuphela imisipha kodwa nezicubu ezithambile. Kwaze kwaba ngo-2006 lapho kwatholakala khona ukuguqulwa kwezakhi zofuzo okubangela lokhu.

Ubani othola lesi simo? Sivame kangakanani?

I-FOP yisifo esingavamile kakhulu . Kulinganiselwa ukuthi lesi simo sithinta cishe umuntu oyedwa kwabayizigidi ezimbili emhlabeni jikelele. Lokhu kusho ukuthi ezweni elinjengeSri Lanka, bambalwa kakhulu kuneminwe esandleni esisodwa abakwazi ukubala lezi ziguli.

Noma ubani angaba nalesi simo. Lokhu kungenxa yokuthi sivame ukubangelwa ukuguquka kwezakhi zofuzo okusha. Lokhu kusho ukuthi kubangelwa ushintsho olungahleliwe oluvela lapho amangqamuzana e-embryo ehlukana, kunokuba azuzwe njengefa kumama noma kubaba. Asinakusho ngokuqinisekile ukuthi ukuguquka kwezakhi zofuzo kwenzeka ngale ndlela. Ngezinye izikhathi, izinto ezifana nokubhema nokuchayeka kumakhemikhali kungandisa ingozi yokuguquka kwezakhi zofuzo ngokujwayelekile. Kodwa endabeni ye-FOP, kuvame ukuba yisenzakalo esingahleliwe. Uma ulindele umntwana, kungumqondo omuhle ukukhuluma nodokotela wakho mayelana nokuthola ukwelulekwa kwezakhi zofuzo ukuze ufunde ngezifo zezakhi zofuzo.

I-FOP iwuthinta kanjani umzimba?

Njengoba imisipha kanye nezicubu ezixhumeneyo kumuntu one-FOP ziphenduka kancane kancane zibe amathambo, ukunyakaza kuyancishiswa.Lesi simo siqala ebuntwaneni entanyeni nasemahlombe futhi sisakazeka kancane kancane emzimbeni.

Into ebalulekile ukuthi noma yiluphi uhlobo lokulimala (ukuhlukumezeka) emzimbeni kungabangela lesi sifo, okusho ukuthi ukwakheka kwamathambo amasha kuyashesha. Lokhu kulimala akudingeki kube yinto enkulu. Kungabangelwa ukuwa okuncane, ukuhlinzwa, noma ukugula okufana nomkhuhlane noma umkhuhlane. Kuleli qophelo, imisipha endaweni ethintekile iyavuvukala futhi ivuvuke (myositis). Lokhu kuvuvukala kungahlala kusukela ezinsukwini ezimbalwa kuya ezinyangeni.

Cabanga ngakho, uma ingane encane iwa ngenkathi idlala noma ithola umkhuhlane, ivame ukuphola ezinsukwini ezimbalwa. Kodwa enganeni ene-FOP, ngisho nento encane njengaleyo ingabangela ukuthi kuqale ukwakheka kwamathambo amasha, 'ukuqhuma' .

Izingane zingase zibe nobunzima bokudla nokukhuluma. Lokhu kungenxa yokuthi ukukhula kwamathambo amasha endaweni yomhlathi kubavimbela ekuvuleni umlomo wabo kahle. Lokhu kungaholela nasekungondlekini kahle . Uma kuvela ukukhula kwamathambo amasha azungeze izimbambo esifubeni, kungenza kube nzima ngamaphaphu ukufutha kahle, okwenza kube nzima ukuphefumula .

Yini ebangela i-FOP?

Imbangela eyinhloko ye-FOP ukuguquka kwezakhi zofuzo i-ACVR1 . Le zakhi zofuzo ze-ACVR1 zitshela umzimba wethu ukuthi wenze ama-receptor ohlobo 1 eprotheni ebizwa ngokuthi i-bone morphogenic protein (BMP) etholakala emisipheni nase-cartilage. Kalula nje, le BMP ilawula ukuthi amathambo nemisipha kukhula kanjani futhi nini.

Uma kwenzeka ushintsho ku-ACVR1 gene, le receptor iba njengesibani esihlala "sivuliwe." Okusho ukuthi, ihlala ivuliwe ngisho noma kufanele icishwe, iqhubeke nokukhiqiza amaprotheni e-BMP. Yilokhu okubangela izimpawu ze-FOP.

I-FOP yisimo esilawulayo se-autosomal . Lokhu kusho ukuthi ingane ingasithola lesi sifo ngisho noma umzali oyedwa kuphela one-gene eshintshiwe. Uma noma yimuphi umzali ene-gene ebangela i-FOP, ingane inethuba elingu-50% lokuyizuza njengefa.

Kodwa-ke, isikhathi esiningi, i-FOP ibangelwa ukuguquka okusha (`de novo mutation`) ku-`ACVR1` gene. Lokhu kusho ukuthi lokhu kuguquka kwezakhi zofuzo kwenzeka ngokungahleliwe, ngaphandle kokuthi noma ubani emndenini abe nalesi sifo ngaphambili.

Ziyini izimpawu ze-FOP?

Isici esiyinhloko se-FOP ukuthi izinto ezifana nemisipha, imisipha, kanye nemisipha ziphenduka kancane kancane zibe amathambo. Odokotela bakubiza lokhu ngokuthi 'i-heterotopic ossification' . Le nqubo iqala ebuntwaneni endaweni yentamo nasemahlombe. Bese, ngokuhamba kwesikhathi, isakazekela kwezinye izingxenye zomzimba. Kwabanye abantu, lokhu kwakheka kwamathambo kungaba ngokushesha kakhulu, kwabanye kungaba kancane kakhulu. Kuyahlukahluka kuye ngomuntu nomuntu.

Izimpawu zivela ngesimo salezo 'zikhukhula' okukhulunywe ngazo ngaphambili.Nge. Okusho ukuthi, ngempendulo yomzimba lapho okuthile kulimaza umzimba (njengokulimala, ukuhlinzwa, umkhuhlane). Ngalesi sikhathi, indawo ethintekile iyavuvukala futhi iba buhlungu. Ngenxa yokuthi i-'bone morphogenic protein type 1' receptor iyaqhubeka nokwenza amaprotheni, amathambo amasha akha phezu kwemisipha kanye nemisipha. Ngemva kokwakheka kwamathambo amasha, ukuvuvukala kuyancipha. Lokhu kungahlala kusukela ezinsukwini ezimbalwa kuya enyangeni.

Isici esiyinhloko: Izinguquko kuzwane olukhulu

Esinye sezibonakaliso ezivame kakhulu ze-FOP, esingabonakala lapho umuntu ezalwa , ukungajwayelekile kozwane olukhulu . Kungaba kufushane kunokujwayelekile, ngezinye izikhathi kugobe ngaphakathi, futhi kungase kubekwe ngaphezu kozwane lwesibili. Lokhu kungajwayelekile kungase kubonakale ngaphambi kokuba kuvele ezinye izimpawu. Cishe abantu abangu-50% abane-FOP nabo banezinkinga ezifanayo kozwane lwabo olukhulu.

Ezinye izimpawu:

Ezinye izimpawu ze-FOP zifaka:

• Ukwakheka kwamathambo amasha phezu kwemisipha, imisipha, kanye nezicubu ezixhumeneyo.
• Ukwehla kokunyakaza (ukuhamba ngesinqe sakho esikhundleni sokukhasa, ukuqina kwamalunga, ukukhiya kwamalunga).
• Ubunzima bokudla nokukhuluma.
• Ukukhubazeka kokuzwa.
• Isimo esingavamile sozwane olukhulu.
• Ukungakwazi ngokuphelele ukunyakaza ngokuhamba kwesikhathi.
• Ezinye izindawo zomzimba ziba bomvu, zibe nsomi, zibe buhlungu, zizizwe zishisa uma uzithinta, futhi zivuvukale njengesimila.
• Ukugoba komgogodla (`Scoliosis` noma `Kyphosis`).
• Ukuvuvukala kwezicubu ezithambile zentamo, amahlombe kanye nomhlane.

Njengoba lesi sifo siqhubeka, umuntu one-FOP angase alahlekelwe yikhono lokunyakaza . Ukukhula kwamathambo amasha kungacindezela imizwa, okubangela ubuhlungu nokuqina. Kulesi sigaba, kunengozi eyengeziwe yokutheleleka kokuphefumula kanye nokwehluleka kwenhliziyo . Ezimweni ezimbi kakhulu, abanye abantu bangase babe nezinkinga zokucabanga nokufunda .

I-FOP ihlolwa kanjani?

Ukuxilongwa kwe-FOP kuqala ngokuhlolwa ngokomzimba ngudokotela . Izimpawu zakho zizoqashelwa futhi umlando wakho wezokwelapha uzobuyekezwa. Ngaphezu kwalokho, kuzokwenziwa ukuhlolwa kofuzo , okuhilela ukuthatha isampula yegazi, ukuze kuhlolwe ukuguquka kofuzo okubangela lesi sifo. Ama-X-ray angasetshenziswa futhi ukuhlola ukukhula kwamathambo amasha emisipheni nasezicutshini ezixhumeneyo.

Kodwa-ke, ukuxilonga i-FOP kungaba yinselele kodokotela. Ngenxa yokuthi ayivamile, odokotela abaningi abavamile ukubona isiguli sinayo empilweni yaso. Ngenxa yalokho, izimpawu ze-FOP ngezinye izikhathi zingaphambaniswa nezinye izimo, njengomdlavuza, i-juvenile fibromatosis (ukukhula kwezicubu ezithambile noma izilonda zesikhumba), noma i-fibrous dysplasia (uhlobo lokukhula kwamathambo).

Kubaluleke kakhulu: Ngisho noma iqhubu ku-FOP libukeka njengesimila, akuwona umqondo omuhle ukuthatha isampula (i-biopsy) yalo.Ngoba ukwenza kanjalo kungenza lesi sifo sibe sibi kakhulu futhi kwandise ingozi yokwakheka kwamathambo amasha (ukuqubuka). Ukuhlolwa kwesimila se-FOP ngezinye izikhathi kungabukeka njengesimila somdlavuza.

Ngakho-ke, izici ezimbili eziyinhloko zokuxilonga i-FOP ngokunembile ukuphazamiseka kwezinzwane ezinkulu kanye nokuvuvukala kwezicubu ezithambile okuvela ezingxenyeni ezahlukene zomzimba.

Yiziphi izindlela zokwelapha i-FOP?

Akukho ukwelashwa kwe-FOP. Kodwa-ke, ukwelashwa kuhloselwe ukulawula izimpawu, ikakhulukazi ukuqubuka kwesikhumba okwenzeka lapho kuqala ukwakheka kwamathambo. Ucwaningo kanye nezivivinyo zemitholampilo ziyaqhubeka. Izinketho zokwelapha zingahluka kumuntu nomuntu, kuye ngezimpawu ezithile umuntu anazo.

Ezinye zezindlela zokwelapha ezingasetshenziswa kwi-FOP yilezi:

• Thola ukwesekwa kwezenhlalo, kwengqondo, kanye nezempilo kanye nokwelulekwa ngofuzo .
• Ukubamba iqhaza ekwelashweni kwezokwelapha ukuze kusizwe ngezidingo zomzimba.
• Ukuthatha ama-antibiotic (njengoba kunqunywe udokotela) ukuvimbela izifo zokuphefumula.
• Ukusetshenziswa kwemithi (isib. ama-corticosteroids , imithi engeyona eye-steroidal yokulwa nokuvuvukala , imithi yokuphumula imisipha) ukunciphisa ukuvuvukala nobuhlungu ngesikhathi sokuqubuka kwesikhumba.
• Ukusetshenziswa kwezinsiza zokuhamba (isb., isihlalo sabakhubazekile).
• Ngezinye izikhathi ugqoke i-brace.

Unganciphisa kanjani ukuqubuka kwesikhumba?

Ukuze kuvinjelwe ukuqubuka kwezimpawu ze-FOP, kubalulekile ukugwema ukulimala kwemisipha nezicubu . Lokhu kuqubuka kwenzeka lapho umzimba ubhekene nesenzakalo esicindezelayo (ukuhlinzwa, ukulimala, ukugula). Ungenza okulandelayo ukuze unciphise ingozi yakho:

• Gwema izimo lapho ungalimala khona, uwe, noma uphuke ithambo. Kufanele uhlale ucabanga ngokuphepha.
• Uma uthola imijovo, faka imijovo ezicutshini ezinamafutha ngaphansi kwesikhumba (imijovo engaphansi kwesikhumba) esikhundleni sokujova ngemisipha. Khuluma nodokotela wakho ngalokhu.
• Gwema ukuhlolwa kwe-biopsy noma ukuhlolwa okususa izicubu ngenhloso yokuxilonga. Buza udokotela wakho ngezinye izindlela zokuhlola.
• Ngesikhathi sokwelashwa kwamazinyo, gwema ukubambelela kakhulu endaweni yomhlathi kanye nemijovo yokubulala izinzwa yendawo ngangokunokwenzeka. Udokotela wamazinyo kufanele aziswe ngalokhu.
• Thatha izinyathelo zokuzivikela ezifweni ezibangelwa amagciwane njengomkhuhlane kanye nomkhuhlane.

Ingabe i-FOP ingavinjelwa ngokuphelele?

Ngenxa yokuthi i-FOP ibangelwa ukuguquka kwezakhi zofuzo, ayinakuvinjelwa ngokuphelele . Ukuze uqonde ingozi yokuba ingane ibe nesifo sofuzo, ungakhuluma nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo.

Yini ongayilindela uma uhlala ne-FOP?

I-FOP yisimo esingelapheki impilo yonke . Isibikezelo asisihle ngenxa yezimpawu ezinzima zalesi sifo, ikakhulukazi izifo zokuphefumula kanye nokulahlekelwa ukuhamba kancane kancane. Isikhathi sokuphila somuntu one-FOP sivame ukwehla sibe umuntu osemusha. Lapho eneminyaka engu-30, abantu abaningi basuke bengasakwazi ukuhamba nhlobo . Izifo zokuphefumula ziyimbangela ehamba phambili yokufa kweziguli ze-FOP.

Kodwa-ke, ucwaningo kanye nezivivinyo zemitholampilo ziyaqhubeka nokuthola izindlela zokwelapha ezintsha, futhi lokhu kunikeza ithemba.

Uzinakekela kanjani?

Ngemva kokuxilongwa ukuthi une-FOP, kuzodingeka usebenzisane eduze nodokotela wakho ukuze uthuthukise uhlelo lokwelashwa olufanele wena kanye nezimpawu zakho. Umeluleki wezakhi zofuzo angakusiza ukuthi uqonde ukuxilongwa futhi akunikeze ukwesekwa ngokomzwelo wena nomndeni wakho. Ukuvuvukala kungaba buhlungu futhi kungakhululeki. Kodwa-ke, udokotela wakho angaphakamisa izindlela zokuphatha lezi zimpawu.

Kufanele ubonane nini nodokotela?

Kufanele ubone udokotela uma:

• Uma kukhona ubuhlungu obukhulu .
• Uma ukuvuvukala kungapheli.
• Uma ukuhamba kwakho kulinganiselwe, amalunga akho aqinile, noma amalunga akho anamathele.
• Uma ungakwazi ukudla.

KUBALULEKILE: Uma unenkinga yokuphefumula , shayela u-1990 ngokushesha noma uye ekamelweni lezimo eziphuthumayo eliseduze.

Imibuzo okufanele uyibuze udokotela wakho

Uma uthola ukuxilongwa okungajwayelekile okufana nalokhu, ungase uzibuze, "Ngenzenjani manje?" Udokotela wakho uzohlala eqapha impilo yakho futhi akunikeze ukwesekwa okudingekayo.

Ungabuza udokotela wakho imibuzo efana nale:

• Yimaphi amadivayisi namathuluzi okunyakaza atholakalayo ukungisiza ngenze imisebenzi yami yansuku zonke?
• Yimiphi imithi oyincomayo yokunciphisa ukuvuvukala nokuvuvukala?
• Ngingabhekana kanjani nobuhlungu obuhambisana nezimpawu zami?

Bangase futhi bakuthumele kumeluleki wezakhi zofuzo noma kuchwepheshe wezokwelapha osebenza nabo. Bangakusiza ukuthi uqonde ukuxilongwa kwakho, banciphise ukuqubuka kwesifo, futhi uphile impilo ekhululekile.

Isifinyezo: Masikhumbule!

I-FOP iyisimo esiyinkimbinkimbi kakhulu nesiyinselele. Kodwa-ke, kubalulekile ukuqaphela, ukuqaphela izimpawu kusenesikhathi, nokufuna iseluleko nokusekelwa okufanele kwezokwelapha.

• I-FOP yisifo esingavamile esibangelwa izakhi zofuzo lapho imisipha nezicubu ezixhumeneyo ziphenduka ithambo.
• Isici esibalulekile ukungajwayelekile kozwane olukhulu olukhona lapho kuzalwa.
• Noma yimuphi umonakalo emzimbeni (ukulimala, ukugula) ungabangela 'ukuqhuma okukhulu'. Ngakho-ke, kubaluleke kakhulu ukuqaphela.
• Ukuhlolwa kwe-biopsy akufaneleki kulezi ziguli.
• Nakuba kungekho ikhambi, kunezindlela zokwelapha zokulawula izimpawu nokuthuthukisa ikhwalithi yokuphila. Ucwaningo luyaqhubeka.
• Uma wena noma othile omaziyo enalezi zimpawu, funa iseluleko sezokwelapha ngokushesha.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Khumbula, awuwedwa. Kwangathi ungathola amandla okubhekana nale nselele ngolwazi olufanele kanye nokusekelwa!

I- FOP, i-Fibrodysplasia i-Ossificans Progressiva, Izifo Zofuzo, Amathambo, Imisipha, Izifo Ezingavamile, i-ACVR1