Ngaba ukhe weva ngesifo esingaqhelekanga esiguqula inyama yakho ibe ngamathambo? Masithethe ngeFibrodysplasia Ossificans Progressiva (FOP).

Namhlanje siza kuthetha ngemeko engaqhelekanga nengaqhelekanga. Khawucinge nje, kuthekani ukuba izihlunu emzimbeni wakho, oko kukuthi, inyama, zijika kancinci zibe ngamathambo, oko kukuthi, amathambo? Kuyamangalisa ukuva, akunjalo? Le meko ibizwa ngokuba yiFibrodysplasia Ossificans Progressiva, oogqirha abayibiza ngokuba yiFOP (Fibrodysplasia Ossificans Progressiva) . Oku kuyinkimbinkimbi kakhulu kwaye kunempembelelo enkulu. Ngoko masithethe ngayo ngokulula, ngendlela onokuyiqonda.

Yintoni i-FOP? Ngamafutshane...

I-FOP (i-Fibrodysplasia Ossificans Progressiva) yimeko yemfuza . Okwenzekayo kukuba izihlunu kunye nezicubu ezinxibelelanayo emzimbeni wethu, njengee-tendon kunye ne-ligaments, zijika zibe yithambo kancinci kancinci. Into ebalulekileyo kukuba eli thambo litsha lenziwe *ngaphandle* kwethambo lethu. Lifana nethambo lesibini elikhula ngaphakathi emzimbeni.

Oku kwakheka kwamathambo okungaqhelekanga kunciphisa kancinci kancinci umgama wokuhamba komzimba. Ekuhambeni kwexesha, kunokuba nzima ukuhamba, ukubaleka, okanye ukutsiba, kwaye kunokwenza kube nzima nokushukumisa amalungu omzimba. Ezi mpawu zihlala ziqala ebuntwaneni . Ziqala ukubonakala kwiindawo ezifana nentamo nasemagxeni, zize zisasazeke ziye emzimbeni ongezantsi.

Le meko yaqala ukubonwa ngoogqirha ngenkulungwane ye-17 neye-18. Kamva, yabizwa ngokuba yi-"myositis ossificans progressiva" (izihlunu zijika zibe yithambo). Nangona kunjalo, uphando lwamva nje, ingakumbi olo lukaGqr. Victor Maciusik weYunivesithi yaseJohns Hopkins, lwakhokelela kwigama elithi Fibrodysplasia Ossificans Progressiva (Fibrodysplasia Ossificans Progressiva) , njengoko ingachaphazeli izihlunu kuphela kodwa nezicubu ezithambileyo. Kwakungekho de kwaba ngu-2006 apho kwafunyaniswa khona utshintsho oluthile lwezakhi zofuzo olubangela le meko.

Ngubani ofumana le meko? Ixhaphake kangakanani?

I-FOP sisifo esingaqhelekanga . Kuqikelelwa ukuba esi sifo sichaphazela malunga nomntu omnye kwizigidi ezibini kwihlabathi liphela. Oku kuthetha ukuba kwilizwe elifana neSri Lanka, bambalwa kuneminwe esandleni esinye abakwaziyo ukubala aba baguli.

Nabani na angafumana le meko. Oku kungenxa yokuba idla ngokubangelwa kukuguquka kwezakhi zofuzo okutsha. Oku kuthetha ukuba ibangelwa lutshintsho olungacwangciswanga olwenzeka xa iiseli ze-embryo zahlukana, endaweni yokuba zifunyanwe kumama okanye kutata. Asinakutsho ngokuqinisekileyo ukuba utshintsho lwezakhi zofuzo lwenzeka ngolu hlobo. Ngamanye amaxesha, izinto ezinje ngokutshaya nokuchatshazelwa ziikhemikhali zinokunyusa umngcipheko wokuguquka kwezakhi zofuzo ngokubanzi. Kodwa kwimeko ye-FOP, idla ngokuba yinto engacwangciswanga. Ukuba ulindele umntwana, licebo elihle ukuthetha nogqirha wakho malunga nokufumana ingcebiso yezakhi zofuzo ukuze ufunde ngezifo zezakhi zofuzo.

I-FOP iyichaphazela njani umzimba?

Njengoko izihlunu kunye nezicubu ezidityanisiweyo kumntu one-FOP ziguquka kancinci zibe yithambo, intshukumo iyancitshiswa.Le meko iqala ebuntwaneni entanyeni nasemagxeni kwaye isasazeka kancinci kancinci emzimbeni.

Into ebalulekileyo kukuba naluphi na uhlobo lokwenzakala (ukwenzakala) emzimbeni kunokubangela esi sifo, nto leyo ethetha ukuba ukwakheka kwamathambo amatsha kuyakhawuleza. Oku kwenzakala akufuneki kube yinto enkulu. Kungabangelwa kukuwa okuncinci, utyando, okanye isifo esifana nomkhuhlane okanye umkhuhlane. Ngeli xesha, izihlunu kwindawo echaphazelekayo ziyadumba kwaye zivuvuke (myositis). Oku kudumba kungathatha iintsuku ezimbalwa ukuya kwiinyanga.

Cinga ngale nto, ukuba umntwana omncinci uyawa ngelixa edlala okanye eba nomkhuhlane, uhlala ephila kwiintsuku ezimbalwa. Kodwa kumntwana one-FOP, nokuba yinto encinci ngolo hlobo inokubangela ukuba ukwakheka kwamathambo amatsha kuqale, 'ukudumba' .

Abantwana banokuba nobunzima bokutya nokuthetha. Oku kungenxa yokuba ukukhula kwamathambo amatsha kwindawo yomhlathi kubathintela ekuvuleni umlomo wabo ngokufanelekileyo. Oku kunokubangela ukungondleki kakuhle . Ukuba ukukhula kwamathambo amatsha kwenzeka ngeenxa zonke kwiimbambo esifubeni, kunokwenza kube nzima ukuba imiphunga ivuvuke ngokufanelekileyo, nto leyo eyenza kube nzima ukuphefumla .

Yintoni ebangela i-FOP?

Eyona nto ibangela i-FOP kukuguquka kwe-gene ye-ACVR1 . Le gene ye-ACVR1 ixelela umzimba wethu ukuba wenze ii-receptors zohlobo loku-1 zeproteni ebizwa ngokuba yi-bone morphogenic protein (BMP) efumaneka kwimisipha nakwi-cartilage. Ngamafutshane, le BMP ilawula indlela kunye nexesha amathambo kunye nemisipha ekhula ngalo.

Xa kwenzeka utshintsho kwi-ACVR1 gene, le receptor iba njengeswitshi yokukhanyisa ehlala "ivuliwe." Oko kukuthi, ihlala ivuliwe nokuba kufuneka icinyiwe, iqhubeke nokuvelisa iiproteni ze-BMP. Yiyo le nto ibangela iimpawu ze-FOP.

I-FOP yimeko elawulayo ye-autosomal . Oku kuthetha ukuba umntwana angasifumana esi sifo nokuba ngumzali omnye kuphela one-gene etshintshileyo. Ukuba omnye wabazali une-gene ebangela i-FOP, umntwana unethuba lama-50% lokusifumana njengelifa.

Nangona kunjalo, uninzi lwexesha, i-FOP ibangelwa kukuguquka kwezakhi zofuzo okutsha (`de novo mutation`) kwi-`ACVR1` gene. Oku kuthetha ukuba olu tshintsho lwezakhi zofuzo lwenzeka ngokungacwangciswanga, kungekho mntu kusapho lwakhe owayekhe waba nesifo ngaphambili.

Zithini iimpawu ze-FOP?

Uphawu oluphambili lwe-FOP kukuba izinto ezifana nezihlunu, imisipha, kunye nemisipha zijika zibe ngamathambo kancinci kancinci. Oogqirha bakubiza oku ngokuthi 'yi-heterotopic ossification' . Le nkqubo iqala ebuntwaneni kwindawo yentamo nasemagxeni. Emva koko, ngokuhamba kwexesha, isasazeka kwezinye iindawo zomzimba. Kwabanye abantu, oku kwakheka kwamathambo kunokuba ngokukhawuleza kakhulu, kwabanye kunokuba kancinci kakhulu. Kuyahluka kumntu nomntu.

Iimpawu zibonakala ngendlela yezo 'ziqhushumbisi' zikhankanyiweyo ngaphambili.Oko kukuthi, ngempendulo yomzimba xa into ilimaza umzimba (njengokwenzakala, utyando, umkhuhlane). Ngeli xesha, indawo echaphazelekayo iyadumba kwaye ibe buhlungu. Ngenxa yokuba i-'bone morphogenic protein type 1' receptor iyaqhubeka nokwenza iiproteni, ithambo elitsha lenziwa phezu kwemisipha kunye nemisipha. Emva kokuba ithambo elitsha lenziwe, ukudumba kuyancipha. Oku kungathatha iintsuku ezimbalwa ukuya kwinyanga.

Uphawu oluphambili: Utshintsho kubhontsi omkhulu

Enye yezona mpawu zixhaphakileyo ze-FOP, ezinokubonwa xa umntu ezalwa , kukungaqheleki konyawo olukhulu . Isenokuba mfutshane kunesiqhelo, ngamanye amaxesha igobile ngaphakathi, kwaye inokuba ngaphezulu konyawo lwesibini. Oku kungaqheleki kunokubonakala ngaphambi kokuba kuvele ezinye iimpawu. Malunga nama-50% abantu abane-FOP nabo baneengxaki ezifanayo kunyawo lwabo olukhulu.

Ezinye iimpawu:

Ezinye iimpawu ze-FOP ziquka:

• Ukwakheka kwamathambo amatsha phezu kwezihlunu, ii-ligaments, kunye nezicubu ezidityanisiweyo.
• Ukuncipha kokuhambahamba (ukuhamba ngesinqe endaweni yokukhasa, ukuqina kwamalungu, ukutshixa kwamalungu).
• Ubunzima bokutya nokuthetha.
• Ukuphazamiseka kokuva.
• Imo engaqhelekanga yobhontsi omkhulu.
• Ukungakwazi ngokupheleleyo ukuhamba ngokuhamba kwexesha.
• Ezinye iindawo zomzimba ziba bomvu, zibe mfusa, zibe buhlungu, zivakale zishushu xa uzichukumisa, zize zidumbe njengethumba.
• Ukugoba komqolo (`Scoliosis` okanye `Kyphosis`).
• Ukudumba kwezicubu ezithambileyo zentamo, amahlombe kunye nomqolo.

Njengoko isifo siqhubeka, umntu one-FOP unokulahlekelwa ngamandla okushukuma . Ukukhula kwamathambo amatsha kunokucindezela imithambo-luvo, okubangela iintlungu nokuqina. Kweli nqanaba, kukho umngcipheko okhulayo wosulelo lokuphefumla kunye nokusilela kwentliziyo . Kwiimeko ezinzima, abanye abantu banokuba neengxaki zokucinga nokufunda .

Ifunyaniswa njani i-FOP?

Ukuxilongwa kwe-FOP kuqala ngokuhlolwa ngugqirha ngokwasemzimbeni . Iimpawu zakho ziya kuqatshelwa kwaye imbali yakho yezonyango iya kuhlolwa. Ukongeza, uvavanyo lwemfuza , olubandakanya ukuthatha isampuli yegazi, luya kwenziwa ukujonga utshintsho lwemfuza olubangela esi sifo. Ii-X-ray zingasetyenziselwa ukujonga ukukhula kwamathambo amatsha kwimisipha nakwizicubu ezinxibelelanayo.

Nangona kunjalo, ukufumanisa i-FOP kunokuba nzima koogqirha. Ngenxa yokuba inqabile, oogqirha abaninzi abafane babone isigulane esinayo ebomini babo. Ngenxa yoko, iimpawu ze-FOP ngamanye amaxesha zinokuphambaniswa nezinye iimeko, ezifana nomhlaza, i-juvenile fibromatosis (ukukhula kwezicubu ezithambileyo okanye izilonda zesikhumba), okanye i-fibrous dysplasia (uhlobo lokukhula kwamathambo).

Kubaluleke kakhulu: Nokuba iqhuma kwi-FOP libonakala ngathi liqhuma, akulunganga ukuthatha isampuli (i-biopsy) yalo.Kuba ukwenza njalo kunokwenza isifo sibe sibi kakhulu kwaye kwandise umngcipheko wokwakheka kwamathambo amatsha (ukudumba). Uvavanyo lwe-FOP tumor ngamanye amaxesha lunokubonakala ngathi lumhlaza.

Ngoko ke, izinto ezimbini eziphambili ekuchongeni i-FOP ngokuchanekileyo kukungaqheleki kwiinzwane ezinkulu kunye nokudumba kwezicubu ezithambileyo ezibonakala kwiindawo ezahlukeneyo zomzimba.

Ziziphi iindlela zonyango ze-FOP?

Akukho nyango lwe-FOP. Nangona kunjalo, unyango lujolise ekulawuleni iimpawu, ingakumbi ukudumba okwenzeka xa amathambo eqala ukwakheka. Uphando kunye novavanyo lwezonyango luyaqhubeka. Iindlela zonyango zinokwahluka kumntu nomntu, kuxhomekeke kwiimpawu ezithile umntu anazo.

Ezinye zeendlela zonyango ezinokusetyenziswa kwi-FOP zezi:

• Fumana inkxaso yezentlalo, yengqondo, kunye nezempilo kunye neengcebiso ngemfuza .
• Ukuthatha inxaxheba kunyango lomsebenzi ukunceda kwiimfuno zomzimba.
• Ukuthatha amayeza okubulala iintsholongwane (njengoko kuyalelwe ngugqirha) ukuthintela usulelo lwemiphunga.
• Ukusetyenziswa kwamayeza (umz. ii-corticosteroids , amayeza angengo-steroidal okulwa nokuvuvukala , iziphumzi zemisipha) ukunciphisa ukudumba kunye nentlungu ngexesha lokudumba.
• Ukusetyenziswa kwezinto zokuncedisa ukuhamba (umz., isitulo esinamavili).
• Ngamanye amaxesha unxibe i-brace.

Indlela yokunciphisa ukudumba kwamehlo?

Ukuthintela ukudumba kweempawu ze-FOP, kubalulekile ukuphepha ukonakala kwemisipha kunye nezicubu . Oku kudumba kwenzeka xa umzimba ufumana isiganeko esixinzelelekileyo (utyando, ukwenzakala, ukugula). Ungenza oku kulandelayo ukunciphisa umngcipheko wakho:

• Ziphephe iimeko apho unokwenzakala, uwe, okanye waphuke ithambo. Kufuneka uhlale ucinga ngokhuseleko.
• Xa ufumana imijovo, fumana imijovo kwizicubu ezinamafutha ezingaphantsi kolusu (ii-subcutaneous injections) endaweni yemijovo ye-intramuscular. Thetha nogqirha wakho ngale nto.
• Ziphephe ii-biopsy okanye iimvavanyo ezisusa izicubu ngeenjongo zokuxilonga. Buza ugqirha wakho ngezinye iindlela zovavanyo.
• Ngexesha lonyango lwamazinyo, kuphephe ukutsala kakhulu umhlathi kunye nokufaka inaliti ye-anesthetic yendawo kangangoko kunokwenzeka. Ugqirha wamazinyo kufuneka aziswe ngale nto.
• Thatha amanyathelo okuzikhusela kwizifo ezibangelwa ziintsholongwane ezifana nomkhuhlane kunye nomkhuhlane.

Ngaba i-FOP ingathintelwa ngokupheleleyo?

Ngenxa yokuba i-FOP ibangelwa kukuguquka kwezakhi zofuzo, ayinakuthintelwa ngokupheleleyo . Ukuze uqonde umngcipheko wokuba umntwana abe nesifo sezakhi zofuzo, ungathetha nogqirha wakho malunga novavanyo lwezakhi zofuzo.

Yintoni onokuyilindela xa uhlala ne-FOP?

I-FOP yimeko engapheliyo ubomi bonke . Ingqikelelo ayilunganga ngenxa yeempawu ezinzima zesifo, ingakumbi usulelo lokuphefumla kunye nokulahlekelwa kukuhambahamba okuqhubekayo. Ubomi obulindelekileyo kumntu one-FOP buhlala buncitshiswa bube bubudala. Xa umntu eneminyaka engama-30 ubudala, abantu abaninzi abasakwazi ukuhamba . Usulelo lokuphefumla lolona lubangela ukufa kubantu abanesifo se-FOP.

Nangona kunjalo, uphando kunye novavanyo lweklinikhi luyaqhubeka nokufumana unyango olutsha, kwaye olu nyango lunika ithemba.

Uzinyamekela njani?

Emva kokuba ufunyaniswe une-FOP, kuya kufuneka usebenzisane ngokusondeleyo nogqirha wakho ukuze uphuhlise isicwangciso sonyango esifanelekileyo kuwe nakwiimpawu zakho. Umcebisi ngezemfuza angakunceda uqonde ukuxilongwa kwaye akunike inkxaso yeemvakalelo kuwe nakusapho lwakho. Ukuqhambuka kwesifo kunokuba buhlungu kwaye kungakhululeki. Nangona kunjalo, ugqirha wakho unokucebisa iindlela zokulawula ezi mpawu.

Ufanele uye nini kugqirha?

Ufanele ubone ugqirha ukuba:

• Ukuba kukho intlungu enzima .
• Ukuba ukudumba akuyehli.
• Ukuba ukuhamba kwakho kuncinci, amalungu akho aqinile, okanye amalungu akho abambekile.
• Ukuba awukwazi ukutya.

KUBALULEKILE: Ukuba unengxaki yokuphefumla , fowunela u-1990 ngoko nangoko okanye uye kwigumbi likaxakeka elikufutshane.

Imibuzo omele uyibuze ugqirha wakho

Xa ufumana isifo esingaqhelekanga ngolu hlobo, usenokuzibuza, "Ndenze ntoni ngoku?" Ugqirha wakho uya kuhlala ejonga impilo yakho aze akunike inkxaso efunekayo.

Ungabuza ugqirha wakho imibuzo efana nale:

• Zeziphi izixhobo zokuhambisa kunye nezixhobo ezikhoyo zokundinceda ndenze imisebenzi yam yemihla ngemihla?
• Ngawaphi amayeza owacebisayo ukunciphisa ukudumba kunye nokuvuvukala?
• Ndingayilawula njani intlungu ehambisana neempawu zam?

Banokukuthumela kumcebisi wezofuzo okanye kwingcali yezonyango zomsebenzi. Banokukunceda uqonde isifo sakho, banciphise ukudumba kwamalungu omzimba, kwaye uphile ubomi obutofotofo.

Isishwankathelo: Masikhumbule!

I-FOP yimeko enzima kakhulu neyinzima. Nangona kunjalo, kubalulekile ukuyiqonda, ukuqaphela iimpawu kwangethuba, kunye nokufumana iingcebiso zonyango ezifanelekileyo kunye nenkxaso.

• I-FOP sisifo esingaqhelekanga semfuza apho izihlunu kunye nezicubu ezidityanisiweyo ziguquka zibe yithambo.
• Uphawu oluphambili kukungaqheleki konyawo olukhulu oluvela ekuzalweni.
• Nakuphi na ukwenzakala emzimbeni (ukwenzakala, ukugula) kunokubangela 'ukudumba'. Ngoko ke, kubaluleke kakhulu ukuba ulumke.
• Uvavanyo lwe-biopsy alufanelekanga kwaba baguli.
• Nangona kungekho nyango, kukho unyango lokulawula iimpawu kunye nokuphucula umgangatho wobomi. Uphando luyaqhubeka.
• Ukuba wena okanye umntu omaziyo unezi mpawu, funa ingcebiso kagqirha ngokukhawuleza.

Ndiyathemba ukuba olu lwazi luza kukunceda. Khumbula, awuwedwa. Ngamana ungafumana amandla okujongana nalo mceli mngeni ngolwazi olufanelekileyo kunye nenkxaso!

I- FOP, i-Fibrodysplasia i-Ossificans Progressiva, Izifo zeMfuzo, Amathambo, Imisipha, Izifo ezingaqhelekanga, i-ACVR1