Masifunde ngemeko engaqhelekanga echaphazela amathambo akho kunye nolusu? (Maffucci Syndrome)

Ngaba wakha weva ngesifo esingaqhelekanga esibangela iingxaki emathanjeni akho, kwaye ngamanye amaxesha ulusu lwakho? Mhlawumbi uqaphele into efana nethambo eliphuma engalweni okanye emlenzeni wakho, okanye amabala abomvu okanye amfusa eluswini lwakho. Yiloo nto siza kuthetha ngayo namhlanje, imeko enzima kancinci, kwaye engaqhelekanga. Ibizwa ngokuba yi-`(Maffucci Syndrome)`. Ungakhathazeki, siza kuthetha ngayo ngokulula, ngendlela onokuyiqonda.

Ngoko ke, yintoni le Maffucci Syndrome?

Ngamafutshane, iMaffucci Syndrome sisifo esingaqhelekanga esichaphazela amathambo nolusu lwakho. Sibandakanya izinto ezintathu eziphambili:

1. I-cartilage ikhula kakhulu ngaphakathi kwamathambo akho. Le cartilage sisicwili esiqinileyo nesiguquguqukayo esigubungela iindawo ezifana namalungu akho. Xa ezi zikhula zibe ziithumba ngaphakathi kwamathambo akho, sizibiza ngokuba zii-'enchondroma'. Ezi azinazo umhlaza (ezinobungozi), oko kuthetha ukuba azinabungozi ekuqaleni. Nangona kunjalo, amakhulu, okanye amawaka, ezi 'enchondromas' zinokuvela.

2. Ezi `(enchondromas)` zibangela ukukhubazeka kwamathambo. Khawucinge nje, ukuba kukho into ekhula ngaphakathi kwethambo ngokungeyomfuneko, imo yelo thambo iyatshintsha, akunjalo? Yiyo loo nto kunjalo. Izinto ezinje ngokufinyezwa kwamalungu, ukolula, kunye nokuqhekeka kwamalungu zinokwenzeka .

3. IiHemangiomas zizigaqa ezibonakala njengemithambo yegazi engaqhelekanga edibene nomphezulu wolusu. Ezi zinokubonakala zibomvu, ziluhlaza okwesibhakabhaka, okanye zimfusa.

Ezi ntlobo ze-cartilage, ezibizwa ngokuba yi-enchondromas, zifumaneka kakhulu emathanjeni eminwe yakho nakwiinzwane. Nangona kunjalo, zinokuchaphazela ezi ndawo zilandelayo:

• Iingalo
• Imilenze
• Iimbambo
• Ukhakhayi
• Ii-vertebrae (ii-vertebrae)

Okubalulekileyo kukuba, ezi enchondroma ekuqaleni azinawo umhlaza (zingenobungozi), kodwa ngamanye amaxesha zinokuba yingozi (ziyingozi). Inani elikhulu labantu abaneMaffucci syndrome (ukuya kuthi ga kwi-50% ngokwezifundo ezithile) basengozini enkulu yokuba nomhlaza wamathambo obizwa ngokuba yi-chondrosarcoma, oqala kwiiseli ze-cartilage. Bakwasengozini enkulu yokuba nomhlaza wezinye iintlobo.

Ixhaphake kangakanani iMaffucci Syndrome?

Enyanisweni, le yimeko engaqhelekanga kakhulu. Kukho amakhulu ambalwa kuphela amatyala abikiweyo kwiirekhodi zonyango kwihlabathi liphela, ngoko ke akumangalisi ukuba awukaze uve ngayo ngaphambili.

Zithini iimpawu zeMaffucci Syndrome?

Iimpawu zeMaffucci syndrome zingahluka kumntu nomntu. Abanye abantu banokuba neempawu ezibuthathaka kakhulu, ngelixa abanye banokuba neempawu eziqatha ngakumbi. Ezi mpawu zinokubakho xa umntu ezalwa, okanye zisenokuqala ukubonakala ebuntwaneni.

Iimpawu eziphambili zibangelwa zizilonda ze-cartilage esithethe ngazo ezibizwa ngokuba yi-"enchondromas." Zinokubangela izinto ezifana nezi:

• Intlungu yethambo
• Ukuqhekeka kwamathambo – Ithambo linokwaphuka nokuba liwile kancinci.
• Iingalo okanye imilenze egobileyo
• Amathambo avuvukileyo - avela njengamaqhuma.
• Umqolo ogobileyo – ufana ne-scoliosis.
• I-Osteolysis ( ukwaphuka kwamathambo )
• Ubude obufutshane
• Iingalo okanye imilenze engalinganiyo – enye ibonakala inde okanye imfutshane kunenye.

Ii-tumor zemithambo yegazi, ezaziwa ngokuba yi-hemangiomas, zinokubangela iimpawu ezifana nezi:

• Amahlwili egazi
• I-Lymphangiomas – Ezi zifana namaqhuma azaliswe lulwelo lwe-lymph.
• Amaqhuma abomvu, amfusa, okanye aluhlaza okwesibhakabhaka eluswini (i-hemangiomas) – aqhele ukubonwa ezandleni. Ekuhambeni kwexesha, la maqhuma anokuba lukhuni aze abe rhabaxa.
• Izihlunu ezingaphuhliswanga kakuhle - kwindawo echaphazelekayo.

Yintoni ebangela iMaffucci Syndrome?

I-Maffucci syndrome sisifo semfuza. Oku kuthetha ukuba sibangelwa lutshintsho (uguquko) kwiijini zethu. Ngokukodwa, sibangelwa lutshintsho olungacwangciswanga kwenye yeejini ezimbini ezibizwa ngokuba yi-'IDH1' (eyona ixhaphakileyo) okanye i-'IDH2' (engafane yenzeke). Abaphandi bakholelwa ukuba olu tshintsho lwemfuza lwenzeka umntwana esesesibelekweni, oko kukuthi, ngaphambi kokuzalwa. Ezi jini ze-'IDH' zinceda ekuveliseni '(ii-enzymes)' ezibalulekileyo ekusebenzeni kweeseli emzimbeni wethu. Nangona kunjalo, izazinzulu azikakwazi ukufumana ulwalamano oluchanekileyo phakathi kwezi '(ii-enzymes)' kunye ne-Maffucci syndrome.

Eyona nto ibalulekileyo kukuba esi ayisosifo esizuzwa njengelifa. Oko kukuthi, asiyonto enokudluliselwa ukusuka kwesinye isizukulwana ukuya kwesinye kuba abazali babenaso. Olu lutshintsho oluzenzekelayo lwemfuza.

Ifunyanwa njani iMaffucci Syndrome?

Ezi mvavanyo zinokunceda ugqirha ukuba afumanise iMaffucci syndrome:

• Uvavanyo lomzimba: Ugqirha uza kukuhlola aze akhangele naziphi na iimpawu ezibonakalayo (ezifana namaqhuma okanye ukukhubazeka). Baza kubuza nangeempawu zakho kunye nokuba kukho nabani na kusapho lwakho okhe waba neemeko ezifanayo.
• Ii-X-reyi okanye ii-CT scans: Ezi zinokuthatha imifanekiso ecacileyo yamathambo akho. Zinokubona ukuba kukho ii-enchondromas, ukuba zisasazeke kangakanani, kwaye nokuba kukho umonakalo emathanjeni.
• Ukuthatha iisampuli zezicubu ngotyando nokuzihlola (`iBiopsy`):Ngamanye amaxesha, iqhekeza elincinci lesicwili liyasuswa ngotyando kwindawo ekrokrisayo (njengethambo okanye iqhuma lolusu) lize lihlolwe ngemicroscope. Yiyo le nto iyenza icace gca.

Ngabaphi oochwephesha abanyanga iMaffucci Syndrome?

Ukuba uneMaffucci syndrome, iqela leengcali ezahlukeneyo lingadibana ukuze likunyange. Umzekelo:

• Ingcali yolusu: Inceda ekunyangeni, ekunciphiseni, okanye, ukuba kuyimfuneko, ukususa ukukhula kolusu njenge-hemangiomas.
• Ugqirha wamathambo: Unyanga ukwaphuka kwamathambo, ulungisa ukukhubazeka kwamathambo ngotyando, kwaye unokususa ii-enchondroma ngotyando.
• Ingcali yomhlaza wamathambo: Ukuba umhlaza ofana ne-chondrosarcoma esithethe ngayo ngaphambili uvela, aba gqirha bayanceda ekuwususeni baze bajonge esi sifo ubomi babo bonke ukuze babone ukuba siyaphinda sibuye na.
• Ingcali ye-X-ray: Baziingcali kwimifanekiso yezonyango, njenge-X-ray kunye ne-CT scans, kwaye babalulekile ekuvavanyeni utshintsho emathanjeni ngokuhamba kwexesha.

Inyangwa njani iMaffucci Syndrome?

Inyaniso kukuba, akukho ndlela yokunyanga ngokupheleleyo iMaffucci syndrome okwangoku. Ke ngoko, iinjongo eziphambili zonyango zezi:

• Ukubona umhlaza kwangethuba nokubonelela ngonyango olusebenzayo ngakumbi.
• Ukuthintela okanye ukunyanga ukwaphuka kwamathambo.
• Ukunciphisa iimpawu ezifana neentlungu.

Iqela lakho lezonyango lidla ngokuyalela iimvavanyo zemifanekiso yezonyango (ezifana nee-X-ray) ukuze kujongwe amathambo akho. Ukuba iingxaki ze-enchondroma okanye amathambo ziphazamisana nemisebenzi yakho yemihla ngemihla, unyango lungabandakanya:

• Ukunxiba ii-braces okanye ukwenza utyando lokulungisa i-scoliosis.
• Ii-cast, ii-splints, kunye notyando lwamathambo aphukileyo.
• Nciphisa umahluko kubude bemilenze ngezihlangu ezikhethekileyo (ii-lift shoe), amayeza, okanye utyando.
• Utyando lokulungisa iziphene ezandleni.
• (ii-Enchondroma) zingasuswa ngotyando. Nangona kunjalo, ezi zinokuphinda zivele.

Ukuba ii-hemangiomas eluswini lwakho ziyakhathaza, ugqirha wakho unokucebisa unyango olubizwa ngokuba yi-sclerotherapy. Oku kuquka ukufaka isisombululo eluswini ukuze kuncitshiswe ukukhula. Ukuba kuyimfuneko, ii-hemangiomas zinokususwa ngotyando.

Ngaba iMaffucci Syndrome ingathintelwa?

Njengoko besikhe sathetha ngaphambili, izazinzulu azikayiqondi ngokupheleleyo indlela eyenzeka ngayo inguqu yemfuza ebangela oku. Ke ngoko, okwangoku akukho ndlela ithile yokukuthintela.

Liyintoni ikamva lomntu oneMaffucci Syndrome?

Isifo sikaMaffucci sisifo esingapheliyo, esihlala ixesha elide. Abanye abantu banokuba neengxaki zomzimba ezincinci, ezisenokungabi nafuthe lingako kwimisebenzi yabo yemihla ngemihla. Nangona kunjalo, kwabanye, iingxaki zamathambo zinokuba zinkulu ngakumbi, kwaye ukungakwazi ukwenza izinto kakuhle emzimbeni kunokwanda.

Okubalulekileyo kukuba, le meko ayichaphazeli ingqondo. Nangona kunjalo, ukuba umhlaza uvela, kukho ithuba lokuba unokunciphisa ixesha lokuphila.

Ndingazinyamekela njani njengomntu oneMaffucci Syndrome?

Ngenxa yokuba abantu abaneMaffucci syndrome basengozini enkulu yokuba nomhlaza, kubalulekile ukuba uhlolwe rhoqo njengoko kucetyisiwe liqela lakho lezonyango. Okukhona umhlaza ufunyanwa kwangoko, kokukhona kunokwenzeka ukuba unyangwe.

Yintoni umahluko phakathi kwe-Ollier Syndrome kunye ne-Maffucci Syndrome?

I-Ollier syndrome kunye ne-Maffucci syndrome zombini ziimeko apho kuvela khona iithumba ze-cartilage ezibizwa ngokuba yi-enchondroma. Nangona kunjalo, kwi-Maffucci syndrome, iithumba zemithambo yegazi ezibizwa ngokuba yi-hemangiomas nazo ziyabonwa. I-Ollier syndrome ayinazo ii-hemangiomas. Nguwo lowo umahluko ophambili.

Ngaba kukho amanye amagama eMaffucci Syndrome?

Ngenxa yokuba ingaqhelekanga, le meko ngamanye amaxesha ibizwa ngamanye amagama, kodwa ayiqhelekanga kangako. Nazi ezinye zemizekelo:

• `(I-Chondrodysplasia ene-hemangioma)`
• `(I-Dyschondroplasia kunye ne-cavernous hemangioma)`
• `(I-Enchondromatosis ene-hemangiomata)`
• `(Isifo sikaKast)`

Nangona kukho amagama amaninzi anje, igama elisetyenziswa kakhulu yiMaffucci Syndrome.

Okokugqibela, umyalezo oya ekhaya

Ukuba wena okanye umntwana wakho nifunyaniswe ukuba nineMaffucci Syndrome, kunokuba nzima kakhulu. Kufuneka ukhathazeke ngokwaphuka kwamathambo kunye nomhlaza wamathambo ubomi bakho bonke. Kunokuba nzima nokubona iingcali ezahlukeneyo kunye nokuvavanywa rhoqo.

Kodwa, ukuba lumka ngolu hlobo, ingakumbi ukuvavanya umhlaza kwangethuba, kunokunceda kakhulu ekusindiseni okanye ekwandiseni ubomi bakho. Ukufunyanwa nonyango lomhlaza kwangethuba yeyona ndlela ilungileyo yokuphucula impilo yakho. Ugqirha wakho uza kukuxelela ukuba zeziphi iimpawu ekufuneka uziqaphele.

Ungakhathazeki. Awuwedwa. Kukho oogqirha kunye namaqela enkxaso ukunceda nokukhokela abantu abaphila nezi meko zingaqhelekanga. Eyona nto ibalulekileyo kukufumana ulwazi oluchanekileyo nokulandela icebiso likagqirha wakho.

Isifo sikaMaffucci , izifo zamathambo, i-cartilage, i-hemangioma, umngcipheko womhlaza, izifo zemfuza, izifo ezingaqhelekanga