Owulidde ku bulwadde obutatera kulabika obufuula ennyama yo eggumba? Ka twogere ku bulwadde bwa Fibrodysplasia Ossificans Progressiva (FOP).

Leero tugenda kwogera ku mbeera eyewunyisa era etali ya bulijjo nnyo. Teebereza, watya singa ebinywa mu mubiri gwo, kwe kugamba, ennyama, mpolampola ne bifuuka amagumba, kwe kugamba amagumba? Kyewunyisa okuwulira, si bwe kiri? Embeera eno eyitibwa Fibrodysplasia Ossificans Progressiva, abasawo gye bayita FOP (Fibrodysplasia Ossificans Progressiva) . Kino ddala kizibu nnyo era kirina kinene kye kikola. Kale ka twogere ku nsonga eno mu ngeri ennyangu, mu ngeri gy’osobola okutegeera.

FOP kye ki? Mu ngeri ennyangu...

FOP (Fibrodysplasia Ossificans Progressiva) mbeera ya buzaale . Ekibaawo ebinywa n’ebitundu ebiyunga mu mubiri gwaffe, gamba ng’emisuwa n’emisuwa, mpolampola bifuuka amagumba. Ekikulu nti eggumba lino eppya likolebwa *ebweru* w’amagumba gaffe. Kiba ng’amagumba ag’okubiri agakula munda mu mubiri.

Okutondebwa kw’amagumba kuno okutali kwa bulijjo kukendeeza mpolampola ebanga omubiri gye gutambula. Ekiseera bwe kigenda kiyitawo, kiyinza okukaluubirirwa okutambula, okudduka oba okubuuka, era kiyinza n’okukaluubiriza okutambuza ebitundu by’omubiri. Obubonero buno butera okutandika mu buto . Zisooka kulabika mu bitundu ng’ensingo n’ebibegabega, oluvannyuma ne zisaasaana mu mubiri ogwa wansi.

Embeera eno yasooka kulaba abasawo mu kyasa eky’ekkumi n’omusanvu n’eky’ekkumi n’omunaana. Oluvannyuma, era kyayitibwa "myositis ossificans progressiva" (ebinywa bikyuka mpolampola ne bifuuka amagumba). Kyokka okunoonyereza okwaddirira naddala okwa Dr. Victor Maciusik owa Johns Hopkins University, kwaleetawo erinnya Fibrodysplasia Ossificans Progressiva (Fibrodysplasia Ossificans Progressiva) , kubanga tekikosa binywa byokka wabula n’ebitundu ebigonvu. Wabula mu 2006, enkyukakyuka y’obuzaale entongole egireeta yazuulibwa.

Ani afuna embeera eno? Kitera kitya?

FOP bulwadde obutatera kulabika nnyo . Kiteeberezebwa nti embeera eno ekosa abantu nga omu ku buli bukadde bubiri mu nsi yonna. Kino kitegeeza nti mu nsi nga Sri Lanka, waliwo abatono okusinga engalo ku mukono ogumu abasobola okubala abalwadde bano.

Omuntu yenna asobola okufuna embeera eno. Kino kiri bwe kityo kubanga kitera okuva ku nkyukakyuka empya mu buzaale. Kino kitegeeza nti kiva ku nkyukakyuka ey’ekifuulannenge ebaawo ng’obutoffaali bw’embuto bweeyawuddemu, okusinga okusikira okuva ku maama oba taata. Tetusobola kugamba bulungi nti enkyukakyuka mu buzaale zibaawo bwe ziti. Oluusi, ebintu ng’okunywa sigala n’okukozesa eddagala bisobola okwongera ku bulabe bw’enkyukakyuka mu buzaale okutwaliza awamu. Naye mu mbeera ya FOP, kitera okuba ekintu ekitali kya bulijjo. Bw’oba ​​osuubira omwana, kiba kirungi okwogera n’omusawo wo ku ky’okufuna okubudaabudibwa ku buzaale omanye endwadde z’obuzaale.

FOP ekosa etya omubiri?

Ebinywa n’ebitundu ebiyunga mu muntu alina FOP bwe bigenda bifuuka amagumba mpolampola, entambula eba ntono.Embeera eno etandikira mu buto mu bulago n’ebibegabega n’esaasaana mpolampola wansi mu mubiri.

Ekikulu kiri nti obuvune obw’engeri yonna (trauma) ku mubiri busobola okuleeta obulwadde buno, ekitegeeza nti okutondebwa kw’amagumba amapya kwanguyirwa. Obuvune buno tebulina kuba kintu kyonna kinene. Kiyinza okuva ku kugwa okutono, okulongoosebwa oba obulwadde ng’omusujja oba ssennyiga. Mu kiseera kino, ebinywa mu kitundu ekikoseddwa bizimba ne bizimba (myositis). Okuzimba kuno kuyinza okumala ennaku ntono okutuuka ku myezi.

Lowooza ku kino, omwana omuto bw’agwa ng’azannya oba n’afuna omusujja, ebiseera ebisinga awona mu nnaku ntono. Naye ku mwana alina FOP, n’ekintu ekitono ng’ekyo kiyinza okuvaako okutondebwa kw’amagumba ago amapya okutandika, ‘flare-up’ .

Abaana bayinza okukaluubirirwa okulya n’okwogera. Kino kiri bwe kityo kubanga amagumba amapya okukula mu kitundu ky’akawanga kibalemesa okuggulawo obulungi akamwa. Kino nakyo kiyinza okuvaako endya embi . Singa okukula kw’amagumba amapya kubaawo okwetooloola embiriizi mu kifuba, kiyinza okukaluubiriza amawuggwe okufuuwa obulungi, ne kizibuwalira okussa .

Kiki ekivaako FOP?

Ekisinga okuvaako FOP y'enkyukakyuka mu ggiini ACVR1 . Ensengekera eno eya ACVR1 egamba omubiri gwaffe okukola ebirungo eby’ekika kya 1 ebikwata ku puloteyina eyitibwa bone morphogenic protein (BMP) esangibwa mu binywa n’amagumba. Mu ngeri ennyangu, BMP eno y’efuga engeri amagumba n’ebinywa gye bikulamu ne ddi lwe bikula.

Enkyukakyuka bwebaawo mu ggiini ya ACVR1, ekikwata kino kifuuka nga switch y'ekitangaala bulijjo "eyaka." Kwe kugamba, esigala ng’eyaka ne bwe yandibadde ng’evuddeko, ng’egenda mu maaso n’okufulumya obutoffaali bwa BMP. Kino kye kivaako obubonero bwa FOP.

FOP mbeera ya autosomal dominant . Kino kitegeeza nti omwana asobola okusikira obulwadde buno ne bw’aba omuzadde omu yekka y’alina obuzaale obukyusiddwa. Singa omuzadde omu alina obuzaale obuleeta FOP, omwana alina emikisa gya 50% okugisikira.

Wabula ebiseera ebisinga, FOP ereetebwa enkyukakyuka empya (`de novo mutation`) mu ggiini ya `ACVR1`. Kino kitegeeza nti enkyukakyuka eno ey’obuzaale ebaawo mu ngeri ya kimpowooze, nga tewali muntu yenna mu maka yali afunye obulwadde buno emabegako.

Bubonero ki obulaga obulwadde bwa FOP?

Ekikulu ekikwata ku FOP kwe kuba nti ebintu ng’ebinywa, emisuwa, n’emisuwa bifuuka amagumba mpolampola. Abasawo kino bakiyita `heterotopic ossification` . Enkola eno etandikira mu buto mu kitundu ky’ensingo n’ebibegabega. Oluvannyuma ekiseera bwe kigenda kiyitawo, ne kisaasaana mu bitundu by’omubiri ebirala. Ku bantu abamu okutondebwa kw’amagumba kuno kuyinza okuba okw’amangu ennyo, abalala kuyinza okuba okw’empola ennyo. Kyawukana okusinziira ku muntu.

Obubonero bulabika mu ngeri y’ebyo ebyogeddwako emabegako ‘flare-ups’.Ne. Kwe kugamba, n’engeri omubiri gye guddamu nga ekintu kituuse obulabe ku mubiri (nga obuvune, okulongoosebwa, omusujja). Mu kiseera kino ekitundu ekikosebwa kizimba ne kiruma. Olw’okuba ekirungo kya `bone morphogenic protein type 1` receptor kigenda mu maaso n’okukola puloteyina, amagumba amapya gakola waggulu ku binywa n’emisuwa. Oluvannyuma lw’eggumba eppya okutondebwa, okuzimba kukendeera. Kino kiyinza okumala ennaku ntono okutuuka ku mwezi gumu.

Ekikulu: Enkyukakyuka mu kigere ekinene

Ekimu ku bubonero obusinga okulaga FOP, obuyinza okulabibwa ng’ozaalibwa , bwe butabeera bwa bulijjo mu kigere ekinene . Kiyinza okuba ekimpi okusinga ekya bulijjo, oluusi nga kikoona munda, era kiyinza okuteekebwa waggulu w’ekigere eky’okubiri. Obutabeera bwa bulijjo buno buyinza okweyoleka nga obubonero obulala tebunnalabika. Abantu nga 50% abalina FOP nabo balina obuzibu obufaananako bwe butyo mu kigere kyabwe ekinene.

Obubonero obulala:

Obubonero obulala obulaga FOP mulimu:

• Okutondebwa kw’amagumba amapya ku binywa, emisuwa, n’ebitundu ebiyunga.
• Okukendeera mu kutambula (okutambulira ku butto mu kifo ky’okuseeyeeya, okukaluba kw’ennyondo, okusiba ebinywa).
• Okukaluubirirwa okulya n’okwogera.
• Obuzibu mu kuwulira.
• Enkula etali ya bulijjo ey’ekigere ekinene.
• Obutasobola ddala kutambula okumala ekiseera.
• Ebitundu by’omubiri ebimu bifuuka bimyufu, bya kakobe, ne biruma, owulira ebbugumu ng’obikwatako era ne bizimba ng’ekizimba.
• Okukoona kw’omugongo (`Scoliosis` oba `Kyphosis`).
• Okuzimba kw’ebitundu ebigonvu eby’ensingo, ebibegabega n’omugongo.

Obulwadde bwe bweyongera, omuntu alina FOP ayinza okufiirwa obusobozi bwonna obw’okutambula . Okukula kw’amagumba amapya kuyinza okunyigiriza obusimu ne kireeta obulumi n’okukaluba. Ku mutendera guno, waliwo obulabe obweyongera obw’okukwatibwa endwadde z’okussa n’okulemererwa kw’omutima . Mu mbeera enzibu, abantu abamu nabo bayinza okuba n’obuzibu mu kulowooza n’okuyiga .

FOP ezuulibwa etya?

Okuzuula obulwadde bwa FOP kutandika n'okukeberebwa omubiri omusawo . Obubonero bwo bujja kwetegereza era ebyafaayo byo eby’obujjanjabi bijja kwekenneenyezebwa. Okugatta ku ekyo, okukebera obuzaale , okuzingiramu okutwala omusaayi, kujja kukolebwa okukebera enkyukakyuka mu buzaale ereeta obulwadde buno. X-rays era zisobola okukozesebwa okukebera oba amagumba amapya gakula ku binywa n’ebitundu ebiyunga.

Wabula okuzuula obulwadde bwa FOP kiyinza okuba ekizibu eri abasawo. Olw’okuba tekitera kubaawo, abasawo bangi tebatera kulaba mulwadde ng’alina mu bulamu bwabwe. N’ekyavaamu, obubonero bwa FOP oluusi busobola okukyamulwa nti buba bwa mbeera endala, gamba nga kookolo, juvenile fibromatosis (okukula kw’ebitundu ebigonvu oba ebiwundu by’olususu), oba fibrous dysplasia (ekika ky’okukula kw’amagumba).

Kikulu nnyo: Ne bwe kiba nti ekizimba mu FOP kiringa ekizimba, si kirungi kukitwala sampuli (biopsy) .. Kubanga okukola ekyo kiyinza okwonoona obulwadde n’okwongera ku bulabe bw’okutondebwa kw’amagumba amapya (flare-ups). Okukebera ekizimba kya FOP oluusi kiyinza okulabika ng’ekizimba kya kookolo.

N’olwekyo, ensonga bbiri enkulu eziyamba okuzuula obulungi FOP kwe butabeera bwa bulijjo mu bigere ebinene n’okuzimba kw’ebitundu ebigonvu ebibeerawo mu bitundu by’omubiri eby’enjawulo.

Bujjanjabi ki obuweebwa FOP?

Tewali ddagala lya FOP. Wabula obujjanjabi bugenderera kufuga bubonero naddala okuzimba amagumba nga gatandise okutondebwa kw’amagumba. Okunoonyereza n’okugezesa mu malwaliro bigenda mu maaso. Enkola z’obujjanjabi ziyinza okwawukana okusinziira ku muntu, okusinziira ku bubonero obw’enjawulo omuntu bw’alina.

Ezimu ku bujjanjabi obuyinza okukozesebwa ku FOP ze zino:

• Funa obuyambi mu mbeera z‟abantu, mu birowoozo, n‟ebyobulamu n‟okubudaabudibwa ku buzaale .
• Okwetaba mu bujjanjabi bw‟emirimu okuyamba ku byetaago by‟omubiri.
• Okumira eddagala eritta obuwuka (nga omusawo bw’amulagira) okuziyiza endwadde z’enkola y’okussa.
• Okukozesa eddagala (e.g. corticosteroids , nonsteroidal anti-inflammatory medication , muscle relaxants) okukendeeza ku kuzimba n’obulumi mu kiseera ky’okuzimba.
• Okukozesa ebiyamba okutambula (e.g., obugaali bw’abalema).
• Oluusi okwambala akaguwa.

Okendeeza otya ku flare-ups?

Okuziyiza obubonero bwa FOP okuzimba, kikulu okwewala okwonooneka kw’ebinywa n’ebitundu by’omubiri . Ebizibu bino bibaawo ng’omubiri gufunye ekintu ekizibu (okulongoosebwa, obuvune, obulwadde). Osobola okukola bino wammanga okukendeeza ku bulabe bwo:

• Weewale embeera gy’oyinza okufuna obuvune, okugwa oba okumenya eggumba. Bulijjo olina okulowooza ku by’okwerinda.
• Bw’oba ​​ogema, funa empiso mu masavu agali wansi w’olususu (empiso eziteekebwa wansi w’olususu) mu kifo ky’okukuba empiso mu binywa. Yogerako n’omusawo wo ku nsonga eno.
• Weewale okukebera ebitundu by’omubiri oba okukebera okuggyamu ebitundu by’omubiri okusobola okuzuula obulwadde. Buuza omusawo wo ku by’okukeberebwa ebirala.
• Mu kiseera ky’okujjanjaba amannyo, weewale okusika ekisusse ku kitundu ky’akawanga n’okukuba empiso z’okubudamya mu kitundu nga bwe kisoboka. Omusawo w’amannyo alina okutegeezebwa ku nsonga eno.
• Kola emitendera okwekuuma endwadde z’akawuka nga ssennyiga n’omusujja.

FOP esobola okuziyizibwa ddala?

Olw’okuba FOP eva ku nkyukakyuka mu buzaale, tesobola kuziyizibwa ddala . Okusobola okutegeera akabi akali mu mwana okufuna obulwadde bw’obuzaale, osobola okwogera n’omusawo wo ku ky’okukebera obuzaale.

Kiki ky’oyinza okusuubira ng’obeera ne FOP?

FOP mbeera ya bulamu bwonna, etawona . Enteebereza y’obulwadde buno bubi olw’obubonero obw’amaanyi obw’obulwadde buno naddala okukwatibwa endwadde z’okussa n’okubulwa entambula okugenda mu maaso. Obulamu bw’omuntu alina FOP butera okukendeezebwa okutuuka ku myaka emito. Abantu bangi bwe baweza emyaka 30, baba tebakyatambula n’akatono . Yinfekisoni z’okussa ze zisinga okutta abalwadde ba FOP.

Kyokka, okunoonyereza n’okugezesa mu malwaliro bikyagenda mu maaso n’okuzuula obujjanjabi obupya, era bino biwa essuubi.

Weerabirira otya?

Bw’omala okuzuulibwa nti olina FOP, ojja kwetaaga okukolagana obulungi n’omusawo wo okukola enteekateeka y’obujjanjabi ekusaanira n’obubonero bwo. Omubuulirizi w’obuzaale asobola okukuyamba okutegeera ekizuuliddwa n’okukuwa obuyambi mu nneewulira gy’oli n’ab’omu maka go. Flare-ups ziyinza okukuluma n’obutanyuma. Kyokka omusawo asobola okukuwa amagezi ku ngeri gy’oyinza okuddukanyaamu obubonero buno.

Ddi lw’osaanidde okulaba omusawo?

Olina okulaba omusawo singa:

• Singa wabaawo obulumi obw'amaanyi .
• Singa okuzimba tekukka wansi.
• Singa okutambula kwo kuba kutono, ennyondo zo zikaluba oba ennyondo zo zisibira.
• Bwoba tosobola kulya.

EKIKULU: Bw’oba ​​olina obuzibu mu kussa , kuba 1990 mu bwangu oba genda mu kisenge ky’abalwadde ab’amangu ekikuli okumpi.

Ebibuuzo by’olina okubuuza omusawo wo

Bw'ofuna obulwadde obutatera kulabika nga buno, oyinza okwebuuza nti, "Kati nkole ntya?" Omusawo wo ajja kulondoola obulamu bwo buli kiseera era akuwe obuyambi obwetaagisa.

Osobola okubuuza omusawo ebibuuzo nga:

• Bikozesebwa ki eby’okutambula n’ebikozesebwa ebisobola okunnyamba okukola emirimu gyange egya bulijjo?
• Eddagala ki ly’ogamba okukendeeza ku kuzimba n’okuzimba?
• Nsobola ntya okuddukanya obulumi obujja n’obubonero bwange?

Era bayinza okukusindika ew’omusawo abuulirira ku buzaale oba omusawo akola ku by’emirimu. Ziyinza okukuyamba okutegeera engeri gy’ozuddemu obulwadde, okukendeeza ku bbugumu n’okubeera n’obulamu obweyagaza.

Mu bufunze: Ka tujjukire!

FOP mbeera nzibu nnyo era esoomooza. Kyokka kikulu okukimanya, okumanya obubonero nga bukyali, n’okunoonya amagezi n’obuyambi obutuufu mu basawo.

• FOP bulwadde bwa buzaale obutatera kulabika ng’ebinywa n’ebitundu ebiyunga bifuuka amagumba.
• Ekikulu ekigikwatako kwe butabeera bwa bulijjo bw’ekigere ekinene ekibeerawo ng’azaalibwa.
• Okwonooneka kwonna ku mubiri (obuvune, obulwadde) kuyinza okuleeta ‘flare-ups’. N’olwekyo, kikulu nnyo okwegendereza.
• Okukebera omubiri (biopsy tests) tekusaanira balwadde bano.
• Wadde nga tewali ddagala, waliwo obujjanjabi obufuga obubonero n’okutumbula omutindo gw’obulamu. Okunoonyereza kugenda mu maaso.
• Bw’oba ​​ggwe oba omuntu gw’omanyi alina obubonero buno, genda mangu omusawo amagezi.

Nsuubira nti amawulire gano gakuyamba. Jjukira nti toli wekka. Ka ofune amaanyi okwolekagana n’okusoomoozebwa kuno ng’olina amawulire amatuufu n’obuwagizi!

` FOP, Fibrodysplasia Ossificans Progressiva, Endwadde z’obuzaale, Amagumba, Ebinywa, Endwadde ezitatera kulabika, ACVR1