Ingaba ingalo okanye umlenze wakho utyebile ngendlela engaqhelekanga? Masifunde ngesi sifo samathambo esingaqhelekanga (iMelorheostosis)!

Ngaba wena okanye umntwana wakho ngamanye amaxesha niziva ubunzima obungaqhelekanga okanye ukuqina engalweni okanye emlenzeni, okanye nje uhlobo lomthi? Okanye ngaba enye ingalo okanye umlenze ubonakala utyebile kunomnye? Ngaba awukwazanga ukugoba okanye ukolula ilungu kakuhle ukususela ebuntwaneni kwaye unentlungu? Ezi azizozinto nje ezingaqhelekanga. Namhlanje siza kuthetha ngesifo samathambo esingaqhelekanga esinokubangela ezi zinto.

Yintoni le sifo singaqhelekanga (iMelorheostosis)?

Ngamafutshane, iMelorheostosis sisifo samathambo esingaqhelekanga kakhulu. Kule meko, izicubu ezintsha zamathambo ziqala ukwakheka kumaleko angaphandle amathambo ethu, abizwa ngokuba ngamathambo e-cortical. Cinga ngayo njengokongeza olunye umaleko weplasta eludongeni, kwaye kwakheka amathambo amaninzi phezu kwelinye lamathambo ethu. Ngoko ke kwenzeka ntoni emva koko? Elo thambo liya likhula libe likhulu.

Idla ngokuchaphazela icala elinye lomzimba, nokuba yingalo okanye umlenze. Nangona kunjalo, inokuchaphazela namanye amathambo, njenge-hip okanye i-sternum. Iimpawu zihlala ziqala ebuntwaneni okanye ebusheni .

Enye into ekhethekileyo ngale ndlela yindlela eli thambo lisandul’ ukwakheka elibonakala ngayo kwi-X-ray. Oogqirha balichaza njenge-wax enyibilikisiweyo evela kwikhandlela ephumileyo kwaye iyavuza . Yiyo loo nto ikwabizwa ngokuba yi-'wax yekhandlela evuzayo'. Ayimangalisi loo nto, akunjalo?

I-Meloriostosis luhlobo lwe-skeletal dysplasia. Ikwaziwa nangokuthi sisifo sikaLeri.

Igama elithi "meloriostosis" lavela njani?

Igama elithi 'Melorheostosis' lisenokubonakala litshintsha kancinci xa uliva, akunjalo? Kodwa wakuba uyazi intsingiselo yalo gama, ungafumana umbono ngesi sifo. Eli gama lenziwa ngokuhlanganisa amagama amathathu kulwimi lwesiGrike. Makhe sibone ukuba ayintoni?

• Igama elithi 'Melos' lithetha isandla okanye unyawo , oko kukuthi, inxalenye yomzimba wethu.
• 'Rheos' lithetha ukuhamba kwamanzi . Njengomlambo oqukuqelayo.
• 'I-Ostosis' ithetha ukwakheka kwamathambo .

Ngoku uyaqonda, akunjalo? Xa la magama mathathu edibene, igama libonisa uhlobo lokwakheka kwamathambo, njengewax ephuma ekhandleleni esithethe ngalo ngaphambili. Igama elifanelekileyo kakhulu, akunjalo?

I-meloriostosis ichaphazela njani umzimba?

Ukuba wena okanye umntwana wakho une-meliorostosis, amathambo amakhulu ngokungaqhelekanga anokunciphisa umgama wokuhamba kwakho. Umzekelo, usenokungakwazi ukuphakamisa ingalo ngokufanelekileyo okanye ukugoba okanye ukolula umlenze ngokufanelekileyo. Usenokuba nokukhubazeka kwamalungu (ii-contractures). Oku kuthetha ukuba ilungu liyavaleka endaweni yalo. Abanye abantu banokuba neentlungu eziqatha.Kusenokwenzeka ukuba oko kuya kwenzeka.

Kunye nolu tshintsho emathanjeni, ungabona notshintsho eluswini . Ulusu lunokuba lukhuni okanye lube nenkangeleko ekhazimlayo, ngokungathi lukhazimlisiwe.

Eyona nto ingcono kukuba i-meloriostosis ayisasazeki ukusuka kwelinye ithambo ukuya kwelinye. Oku kuthetha ukuba ukuba isesandleni esinye, ayisayi kusasazeki ukuya kwelinye. Nangona kunjalo, imeko inokuba mandundu kancinci ngokuhamba kwexesha. Oku kuthetha ukuba iintlungu zinokwanda kwaye intshukumo isenokuncitshiswa.

Ixhaphake kangakanani le sifo?

I-Meloriostosis sisifo esingaqhelekanga kakhulu. Sinqabile kangangokuba iingcali zithi esi sifo siyenzeka kubantu abamalunga nesigidi kwihlabathi liphela. Oko kuthetha ukuba naseSri Lanka, aba baguli bambalwa kakhulu.

Kutheni le nto i-meloriostosis isenzeka? Yintoni unobangela?

Usenokumangaliswa kukuva oku. Kwabanye abantu, malunga nomnye kwabababini, abafumana esi sifo, unobangela kukuguquka kwezakhi zofuzo. Sine-gene ebizwa ngokuba yi-'MAP2K1' emizimbeni yethu. Le gene yenza iproteni ekhethekileyo elawula ukukhula kweeseli zethu zamathambo. Ngoko ke, ukuba kukho utshintsho, oko kukuthi, 'ukuguqulwa', kule gene ye-'MAP2K1', le meko ye-meloriostosis inokwenzeka.

Into ebalulekileyo kukuba olu tshintsho lwemfuza lwenzeka 'ngamaxesha athile'. Oko kukuthi, asinto ezuzwa ngabazali. Cinga nje, njengelotho, olu tshintsho lwemfuza lunokwenzeka kumntu ngengozi.

Nangona kunjalo, ayinguye wonke umntu one-meloriostosis onayo le nguqu yezakhi zofuzo ethi 'MAP2K1'. Kukho abanye abantu abanale nguqu yezakhi zofuzo ngaphandle kwale nguqu yezakhi zofuzo. Ngoko ke kwiimeko ezinjalo, oogqirha abakakwazi ukufumanisa ukuba yintoni kanye kanye ebangela esi sifo. Uphando olongezelelweyo lwenziwa ngaloo nto.

Zithini iimpawu ze-meloriostosis?

Malunga nomntu omnye kwababini abane-meloriostosis uqala ukubonisa iimpawu ngaphambi kokuba afikelele kwiminyaka engama-20 ubudala. Ngokuqhelekileyo, ezi mpawu ziqala ebuntwaneni, ngamanye amaxesha kwiintsuku ezimbalwa emva kokuzalwa . Ngokuhamba kwexesha, ezi mpawu zinokuba nzima ngakumbi .

Ezi mpawu zihlala zibonakala kakhulu engalweni okanye emlenzeni. Nangona kunjalo, kunqabile kakhulu, wena okanye umntwana wakho ninokuba nazo ezi mpawu nakwezinye iindawo, ezifana nesinqe, ithambo eliphakathi lesifuba (sternum), okanye iimbambo. Makhe sijonge iimpawu eziphambili:

• Intlungu engapheliyo: Oku kuthetha intlungu ehlala ixesha elide. Le yeyona ngxaki iphambili kubantu abaninzi.
• Ulusu olujiyileyo okanye olukhazimlayo: Ulusu lusenokubonakala ngathi lukhazimlisiwe. Lusenokuvakala luqinile xa luchukunyiswa.
• Ukudumba engalweni okanye emlenzeni: Oku kudumba kunokubangelwa kukugcinwa kolwelo (i-edema) okanye ukudumba kwee-lymph nodes (i-lymphedema).
• Uluhlu olulinganiselweyo lwentshukumo:Umzekelo, ukungakwazi ukugoba ingqiniba ngokupheleleyo okanye ukunweba idolo ngokupheleleyo.
• Ukuwohloka kwemisipha: Izihlunu ezingalweni okanye emlenzeni ochaphazelekayo zinokuwohloka kancinci kancinci.
• Ubude obungalinganiyo bengalo okanye umlenze: Ingalo enye isenokuba mfutshane kunenye, okanye umlenze omnye unokuba mfutshane kunenye. Oku kunokubangela nobunzima bokuhamba.

Ifunyanwa njani i-meloriostosis?

Oogqirha basebenzisa kakhulu iimvavanyo ezizodwa zokuthatha imifanekiso ukuze bafumanise i-meloriostosis.

Phakathi kwabo:

• Ukuskena amathambo: Oku kuquka ukufaka idosi encinci yento enemisebe emzimbeni uze uyijonge ngekhamera ekhethekileyo. Oku kuvumela umbono ocacileyo weengxaki emathanjeni.
• Ii-X-reyi: Le yinto osenokuba uyazi. Isebenzisa imitha ephantsi ukujonga amathambo kunye nezicubu ezithambileyo. Xa ujonga i-X-reyi yomntu one-meloriostosis, uya kubona loo mbonakalo "ye-wax evuzayo" esiyikhankanyileyo ngaphambili. Olu luphawu olubaluleke kakhulu ekuxilongeni esi sifo.

Ukongeza kwezi mvavanyo zokuthatha imifanekiso, ngamanye amaxesha oogqirha banokucebisa uvavanyo lwemfuza . Oku kwenziwa ngokuthatha isampuli yegazi. Ezi mvavanyo zemfuza zijonga ubukho botshintsho lwemfuza lweMAP2K1 esithethe ngalo ngaphambili.

Zithini iindlela zokunyanga oku? Ngaba kunokunyangwa?

Inyaniso kukuba, akukho nyango lwe-meloriostosis okwangoku. Oku kusenokuvakala kubuhlungu ukukuva. Kodwa ungakhathazeki. Kukho unyango oluninzi olunokukunceda wena nomntwana wakho niphile ubomi obungcono ngokulawula iimpawu.

Oogqirha badla ngokucebisa unyango olufana nolu ukunciphisa iintlungu nokuphucula ukusebenza komzimba:

• Unyango lomzimba: Oku kubandakanya ukusebenzisa izivivinyo ezikhethekileyo kunye nonyango ukunceda ukwandisa amandla omzimba kunye nokwandisa uluhlu lokushukuma kwamalungu. Umzekelo, ukuba unengxaki yokugoba ingalo yakho, unokufundiswa izivivinyo eziya kukunceda.
• Unyango lomsebenzi: Oku kunceda ekuphuhliseni izakhono zomzimba ezintle. Oko kukuthi, imisebenzi emincinci eyenziwa ngeminwe, njengokucinezela amaqhosha, ukubhala, njl. Kwakhona, ukunceda umntwana ukuba enze imisebenzi yemihla ngemihla eyedwa, njengokuhlamba nokunxiba, yinxalenye yolu nyango.
• Amayeza:
• Iipilisi zokunciphisa iintlungu: Iipilisi zokunciphisa iintlungu, ezifana neepilisi ezichasene nokuvuvukala ezingezizo ii-steroidal (NSAIDs), zinikwa ukunciphisa iintlungu.
• IiBisphosphonates: Ezi zinikwa ukuqinisa amathambo.
• Utyando:Kwezinye iimeko, utyando lunokufuneka ukuze kususwe ithambo elongezelelweyo elisandul’ ukwenziwa okanye kuphinde kumile ithambo. Nangona kunjalo, oku kwenziwa kuphela ukuba ezinye iindlela zonyango aziniki ncedo.

Kubalulekile: Ayizizo zonke ezi ndlela zonyango ezifanelekileyo kumntu wonke. Ugqirha wakho uya kugqiba ukuba loluphi unyango olulungele imeko yakho.

Ngaba ikho indlela yokuthintela ukuba i-meloriostosis ingaphumi?

Ezi ziindaba ezibuhlungu kancinci. Ngenxa yokuba i-meloriostosis sisifo esenzeka ngokungacwangciswanga, oko kuthetha ukuba senzeka ngaphandle kwesizathu esicacileyo , akukho nto sinokuyenza ukuyithintela ukuba ingakhuli. Inxulumene notshintsho lwemfuza, ngoko ke yinto engaphaya kwamandla ethu.

Zithini iziphumo zesi sifo ezihlala ixesha elide?

I-Meloriostosis ayingomhlaza. Ngoko ke akukho nto ixhalabisayo ngayo. Kwakhona, esi sifo asifinyezi ixesha lokuphila kwakho. Ezi zezona ndaba zilungileyo.

Nangona kunjalo, esi sifo sinokuthintela ukusebenza komzimba kunye nokuhamba kwawo. Kusenokufuneka uphile nezinto ezifana neentlungu kunye nokudumba kwamalungu. Nangona kunjalo, ngesicwangciso sonyango esifanelekileyo, abantu abane-meloriostosis banokuphila ubomi obuphezulu. Oko kuthetha ukuba banokuphila ngolonwabo kwaye benze umsebenzi wabo njengaye wonke umntu.

Yintoni enye endifanele ndiyibuze kugqirha?

Ukuba wena okanye umntwana wakho uneempawu ze-meloriostosis, okanye sele efunyenwe enale meko, kubalulekile ukubuza ugqirha wakho imibuzo efana nale:

• "Zithini iimpawu zokuqala ze-meloriostosis?"
• "Zeziphi iimvavanyo ekufuneka ndizenze ukuze ndifumanise esi sifo ngokuchanekileyo?"
• "Zeziphi iindlela zonyango endinazo? Loluphi unyango olungcono kum?"
• " Kunokwenzeka ntoni ukuba andiyinyangi le nto?"
• " Ndingenza ntoni ukuphucula umgangatho wobomi bam ngenxa ye-meloriostosis?"

Buza le mibuzo ukuze uqonde ngcono imeko yakho. Thetha ngokukhululekileyo nogqirha wakho.

Ngaba zikhona ezinye izifo ezineempawu ezifanayo neze-meloriostosis?

Ewe, kukho ezinye iimeko ezininzi ezinokubangela iimpawu ezifana nezo ze-meloriostosis. Ugqirha wakho uya kuzisusa ezi meko xa esenza uxilongo. Ezinye zezi meko ziquka:

• Isifo seBuschke-Ollendorff
• Ithumba elibi
• I-Hemangioma
• I-Osteopathy
• I-Osteopoikilosis
• I-Scleroderma

Yingakho kubaluleke kakhulu ukwenza uxilongo oluchanekileyo.

Okokugqibela, izinto ekufuneka uzikhumbule

I-Melorheostosis sisifo samathambo esingaqhelekanga.Kulapho ke izicubu ezintsha zethambo ziqala khona phezu kwethambo elikhoyo. Zidla ngokuchaphazela ingalo okanye umlenze omnye. Nangona zingasasazeki ukusuka kwelinye ithambo ukuya kwelinye, imeko inokuba mandundu ngokuhamba kwexesha.

Ukuba une-meloriostosis, ungoyiki. Kukho unyango olufumanekayo, olufana namayeza, unyango lomzimba, unyango lomsebenzi, okanye utyando. Olu nyango lunokukunceda ukunciphisa iintlungu, ubuyele kwimisebenzi eqhelekileyo, kwaye uphile ubomi obungcono. Eyona nto ibalulekileyo kukufuna iingcebiso zonyango ngokukhawuleza ukuba uneempawu kwaye ulandele imiyalelo kagqirha wakho ngononophelo.

I- Melorheostosis, isifo samathambo, ukukhula kwamathambo, iintlungu zamalungu, imida yokunyakaza, utshintsho lwemfuza, izifo zabantwana