Ake sifunde ngesimo esingavamile esithinta amathambo akho kanye nesikhumba sakho? (Maffucci Syndrome)

Wake wezwa ngesifo esingajwayelekile esibangela izinkinga emathanjeni akho ngokuzumayo, futhi ngezinye izikhathi esikhumbeni sakho? Mhlawumbe uke waphawula okuthile okufana nethambo eliphuma engalweni noma emlenzeni wakho, noma amabala abomvu noma ansomi esikhumbeni sakho. Yilokho esizokhuluma ngakho namuhla, isimo esiyinkimbinkimbi kancane, futhi esingavamile kakhulu. Sibizwa ngokuthi `(Maffucci Syndrome)`. Ungakhathazeki, sizokhuluma ngakho kalula, ngendlela ongayiqonda.

Ngakho-ke, iyini le Maffucci Syndrome?

Kalula nje, i-Maffucci Syndrome iyisimo esingavamile kakhulu esithinta amathambo nesikhumba sakho. Sihilela izinto ezintathu eziyinhloko:

1. I-cartilage ikhula kakhulu ngaphakathi kwamathambo akho. Le cartilage iyisicubu esiqinile nesiguquguqukayo esimboza izindawo ezifana namalunga akho. Uma lezi zikhula zibe izimila ngaphakathi kwamathambo akho, sizibiza ngokuthi 'ama-enchondroma'. Lawa awawona umdlavuza (angabi yingozi), okusho ukuthi awayona ingozi ekuqaleni. Kodwa-ke, amakhulu, noma ngisho nezinkulungwane, zalawa 'ma-enchondroma' angakhula.

2. Lawa ma-`(enchondroma)` abangela ukukhubazeka kwamathambo. Cabanga nje, uma okuthile kukhula ngaphakathi kwethambo ngokungadingekile, isimo salelo thambo siyashintsha, akunjalo? Yilokho okwenzekayo. Izinto ezifana nokufinyezwa kwamalungu, ukwelula, kanye nokuphuka kwamathambo zingenzeka .

3. Ama-hemangioma amaqhubu avela njengemithambo yegazi engavamile ehlangene ebusweni besikhumba. Lawa angabonakala ebomvu, eluhlaza okwesibhakabhaka, noma onsomi.

Lezi zimila ze-cartilage, ezibizwa ngokuthi ama-enchondroma, zivame ukutholakala emathanjeni eminwe yakho nezinzwane. Kodwa-ke, zingathinta nezindawo ezilandelayo:

• Izingalo
• Imilenze
• Izimbambo
• Ugebhezi
• I-vertebrae (i-vertebrae)

Okubalulekile, la ma-enchondroma ekuqaleni awawona umdlavuza (angabi yingozi), kodwa ngezinye izikhathi angaba yingozi (ayingozi). Inani elikhulu labantu abane-Maffucci syndrome (kufika ku-50% ngokusho kwezinye izifundo) basengozini enkulu yokuthola uhlobo lomdlavuza wamathambo olubizwa ngokuthi i-chondrosarcoma, oluqala kumaseli e-cartilage. Basengozini enkulu yokuthola ezinye izinhlobo zomdlavuza.

Ivame kangakanani i-Maffucci Syndrome?

Eqinisweni, lesi yisimo esingavamile kakhulu. Kunamacala ambalwa kuphela abikiwe kumarekhodi ezokwelapha emhlabeni wonke, ngakho akumangazi uma ungakaze uzwe ngaso ngaphambili.

Ziyini izimpawu ze-Maffucci Syndrome?

Izimpawu ze-Maffucci syndrome zingahluka kuye ngomuntu nomuntu. Abanye abantu bangase babe nezimpawu ezincane kakhulu, kanti abanye bangase babe nezimpawu ezinzima kakhulu. Lezi zimpawu zingase zibe khona lapho umuntu ezalwa, noma zingase ziqale ukubonakala ebuntwaneni.

Izimpawu eziyinhloko zibangelwa yilawo mathumba e-cartilage esikhulume ngawo abizwa ngokuthi "ama-enchondroma." Angabangela izinto ezifana nalezi:

• Ubuhlungu bethambo
• Ukuphuka kwamathambo – Ithambo lingaphuka ngisho noma liwile kancane.
• Izingalo noma imilenze egobile
• Amathambo avuvukele - avela njengezigaxa.
• Umgogodla ogobile - ofana ne-scoliosis.
• I-Osteolysis ( ukuqhekeka kwamathambo )
• Ubude obufushane
• Izingalo noma imilenze engalingani – enye ibonakala inde noma imfushane kunenye.

Izimila zemithambo yegazi, ezaziwa ngokuthi i-hemangiomas, zingabangela izimpawu ezifana nalezi:

• Amahlule egazi
• Ama-Lymphangiomas – Lawa afana namaqhubu agcwele uketshezi lwe-lymph.
• Amaqhubu abomvu, onsomi, noma aluhlaza okwesibhakabhaka esikhumbeni (i-hemangiomas) - avame ukubonakala ezandleni. Ngokuhamba kwesikhathi, lawa angaba lukhuni futhi abe lukhuni.
• Imisipha engakakhuli kahle – endaweni ethintekile.

Yini ebangela i-Maffucci Syndrome?

I-Maffucci syndrome iyisifo sofuzo. Lokhu kusho ukuthi ibangelwa ushintsho (ukuguquka) kwezakhi zofuzo zethu. Ngokukhethekile, ibangelwa ushintsho olungahleliwe kwelinye lama-gene amabili abizwa ngokuthi i-'IDH1' (evame kakhulu) noma i-'IDH2' (okungavamile). Abacwaningi bakholelwa ukuthi lokhu kuguquka kwezakhi zofuzo kwenzeka ingane isesesibelethweni, okungukuthi, ngaphambi kokuzalwa. La ma-gene e-'IDH' asiza ekukhiqizeni '(ama-enzyme)' abalulekile ekusebenzeni kwamaseli emzimbeni wethu. Kodwa-ke, ososayensi abakakwazi ukuthola ubudlelwano obuqondile phakathi kwala ma-'enzyme' kanye ne-Maffucci syndrome.

Into ebaluleke kakhulu ukuthi lesi akusona isifo esizuzwa njengefa. Okusho ukuthi, akuyona into engadluliselwa kusuka kwesinye isizukulwane kuya kwesinye ngoba abazali babenaso. Lokhu kungukuguquka kwezakhi zofuzo okungahleliwe.

I-Maffucci Syndrome ihlolwa kanjani?

Lezi zivivinyo zingasiza udokotela ukuthi athole i-Maffucci syndrome:

• Ukuhlolwa ngokomzimba: Udokotela uzokuxilonga futhi abheke noma yiziphi izimpawu ezibonakalayo (ezifana namaqhubu noma ukukhubazeka). Bazokubuza nangezimpawu zakho nokuthi ngabe kukhona yini emndenini wakho oke waba nezimo ezifanayo.
• Ama-X-ray noma ama-CT scan: Lokhu kungathatha izithombe ezicacile zamathambo akho. Bese bebona ukuthi kukhona yini ama-enchondroma, ukuthi asakazeke kangakanani, nokuthi ngabe kukhona yini umonakalo emathanjeni.
• Ukuthatha amasampula ezicubu ngokuhlinzwa bese uzihlola (`i-Biopsy`):Ngezinye izikhathi, ingxenye encane yezicubu isuswa ngokuhlinzwa endaweni esolisayo (njengethambo noma iqhubu lesikhumba) bese ihlolwa ngaphansi kwesibonakhulu. Yilokhu okwenza kube sobala.

Hlobo luni lochwepheshe abaphatha i-Maffucci Syndrome?

Uma une-Maffucci syndrome, ithimba lochwepheshe abahlukene lingahlangana ukuze likwelaphe. Isibonelo:

• Udokotela Wesikhumba: Usiza ekwelapheni, ekunciphiseni, noma, uma kudingeka, ukususa izimila zesikhumba njenge-hemangiomas.
• Udokotela ohlinza amathambo: Welapha ukwaphuka kwamathambo, ulungisa ukukhubazeka kwamathambo ngokuhlinzwa, futhi angasusa nama-enchondroma ngokuhlinzwa.
• Udokotela Wezifo Zomdlavuza Wamathambo: Uma kuvela umdlavuza ofana ne-chondrosarcoma esikhulume ngayo ekuqaleni, laba odokotela bayasiza ekuwususeni futhi baqaphe lesi sifo impilo yonke ukuze babone ukuthi siyaphinda yini.
• Isazi semisebe: Bangochwepheshe ekuthathweni kwezithombe zezokwelapha, njenge-X-ray kanye ne-CT scans, futhi babalulekile ekuhloleni izinguquko emathanjeni ngokuhamba kwesikhathi.

Iphathwa kanjani i-Maffucci Syndrome?

Uma ngikhuluma iqiniso, ayikho indlela yokwelapha ngokuphelele i-Maffucci syndrome okwamanje. Ngakho-ke, imigomo eyinhloko yokwelashwa yile:

• Ukuthola umdlavuza kusenesikhathi nokunikeza ukwelashwa okuphumelelayo kakhudlwana.
• Ukuvimbela noma ukwelapha ukuphuka kwamathambo.
• Ukunciphisa izimpawu ezifana nobuhlungu.

Ithimba lakho lezokwelapha livame uku-oda ukuhlolwa kwezithombe zezokwelapha (njenge-X-ray) ukuze kuqashwe amathambo akho. Uma izinkinga ze-enchondroma noma amathambo ziphazamisa imisebenzi yakho yansuku zonke, ukwelashwa kungafaka:

• Ukugqoka ama-braces noma ukuhlinzwa ukuze kulungiswe i-scoliosis.
• Ukufakwa kwe-cast, i-splint, kanye nokuhlinzwa kwamathambo aphukile.
• Nciphisa umehluko wobude bemilenze ngezicathulo ezikhethekile (ukuphakamisa izicathulo), imithi, noma ukuhlinzwa.
• Ukuhlinzwa ukuze kulungiswe ukukhubazeka ezandleni.
• (ama-Enchondroma) angasuswa ngokuhlinzwa. Kodwa-ke, lawa angaphinde avele.

Uma ama-hemangioma esikhumbeni sakho ekhathaza, udokotela wakho angase ancome ukwelashwa okubizwa ngokuthi i-sclerotherapy. Lokhu kuhilela ukufaka ikhambi esikhumbeni ukuze kuncishiswe ukukhula. Uma kudingeka, ama-hemangioma angasuswa ngokuhlinzwa.

Ingabe i-Maffucci Syndrome ingavinjelwa?

Njengoba sesixoxile ngaphambili, ososayensi abakaqondi ngokugcwele ukuthi ukuguquka kwezakhi zofuzo okubangela lokhu kwenzeka kanjani. Ngakho-ke, okwamanje ayikho indlela ethile yokukuvimbela.

Liyini ikusasa lomuntu one-Maffucci Syndrome?

I-Maffucci syndrome iyisifo esingamahlalakhona, esihlala isikhathi eside. Abanye abantu bangase babe nezinkinga ezincane zomzimba, ezingase zingabi nomthelela omkhulu emisebenzini yabo yansuku zonke. Kodwa-ke, kwabanye, izinkinga zamathambo zingase zibe zimbi kakhulu, futhi ukulinganiselwa ngokomzimba kunganda.

Okubalulekile, lesi simo asithinti ubuhlakani. Kodwa-ke, uma umdlavuza uvela, kunethuba lokuthi unganciphisa isikhathi sokuphila.

Ngingazinakekela kanjani njengomuntu one-Maffucci Syndrome?

Ngenxa yokuthi abantu abane-Maffucci syndrome basengozini enkulu yokuba nomdlavuza, kubalulekile ukuhlolwa njalo njengoba kunconywe yithimba lakho lezokwelapha. Uma umdlavuza utholakala ngokushesha, kulapho amathuba okuba welashwe khona.

Uyini umehluko phakathi kwe-Ollier Syndrome ne-Maffucci Syndrome?

I-Ollier syndrome kanye ne-Maffucci syndrome zombili ziyizimo lapho kuvela khona izimila ze-cartilage ezibizwa ngokuthi i-enchondroma. Kodwa-ke, ku-Maffucci syndrome, izimila zemithambo yegazi ezibizwa ngokuthi i-hemangiomas nazo ziyabonakala. I-Ollier syndrome ayinazo i-hemangiomas. Yilowo umehluko omkhulu.

Ingabe akhona amanye amagama e-Maffucci Syndrome?

Ngenxa yokuthi akuvamile, lesi simo ngezinye izikhathi sibizwa ngamanye amagama, kodwa awavamile kangako. Nazi ezinye izibonelo:

• `(I-Chondrodysplasia ene-hemangioma)`
• `(I-Dyschondroplasia kanye ne-cavernous hemangioma)`
• `(I-Enchondromatosis ene-hemangiomata)`
• `(Isifo se-Kast)`

Nakuba kunezinhlobo eziningi zamagama anjengalawa, igama elivame ukusetshenziswa kakhulu yiMaffucci Syndrome.

Ekugcineni, umyalezo okufanele uwuthathe uye nawo ekhaya

Uma wena noma ingane yakho nitholakala nine-Maffucci Syndrome, kungaba nzima kakhulu. Kufanele ukhathazeke ngokuphuka kwamathambo kanye nomdlavuza wamathambo impilo yakho yonke. Kungaba yinto ekhathazayo nokubona ochwepheshe abahlukahlukene kanye nokuhlolwa njalo.

Kodwa, ukuqaphela kanje, ikakhulukazi ukuhlolwa umdlavuza kusenesikhathi, kungasiza kakhulu ekusindiseni noma ekwandiseni impilo yakho. Ukutholwa nokwelashwa komdlavuza kusenesikhathi kuyindlela engcono kakhulu yokuthuthukisa impilo yakho. Udokotela wakho uzokutshela ukuthi yiziphi izimpawu okufanele uziqaphele.

Ungakhathazeki. Awuwedwa. Kukhona odokotela namaqembu okusekela ukusiza nokuqondisa abantu abaphila nalezi zimo ezingavamile. Into ebaluleke kakhulu ukuthola ulwazi olufanele nokulandela iseluleko sikadokotela wakho.

I- Maffucci syndrome, izifo zamathambo, i-cartilage, i-hemangioma, ingozi yomdlavuza, izifo zofuzo, izifo ezingavamile