E aʻo kākou e pili ana i kahi maʻi laha ʻole e hoʻopilikia ai i kou mau iwi a me kou ʻili? (Maffucci Syndrome)

Ua lohe paha ʻoe i kahi maʻi ʻē e hoʻopilikia koke i kou mau iwi, a i kekahi manawa kou ʻili? Ua ʻike paha ʻoe i kahi mea e like me ka iwi e puka mai ana mai kou lima a wāwae paha, a i ʻole nā ​​kiko ʻulaʻula a poni paha ma kou ʻili. ʻO ia ka mea a mākou e kamaʻilio ai i kēia lā, he ʻano paʻakikī iki, a he ʻano kakaikahi loa. Ua kapa ʻia ʻo ia ʻo `(Maffucci Syndrome)`. Mai hopohopo, e kamaʻilio maʻalahi mākou e pili ana i ia mea, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

No laila, he aha kēia Maffucci Syndrome?

I ka ʻōlelo maʻalahi, he maʻi laha ʻole ka Maffucci Syndrome e hoʻopilikia ana i kou mau iwi a me kou ʻili. Pili ia i ʻekolu mau mea nui:

1. Ulu nui ka cartilage i loko o kou mau iwi. He ʻiʻo paʻakikī a palupalu kēia cartilage e uhi ana i nā wahi e like me kou mau hono. Ke ulu kēia mau mea i loko o nā puʻupuʻu i loko o kou mau iwi, kapa mākou iā lākou he 'enchondromas'. ʻAʻole kēia he maʻi kanesa (benign), ʻo ia hoʻi, ʻaʻole lākou he mea weliweli i ka wā mua. Eia nō naʻe, hiki i nā haneli, a i ʻole nā ​​tausani, o kēia mau 'enchondromas' ke ulu.

2. ʻO kēia mau `(enchondromas)` ke kumu o nā deformities skeletal. E noʻonoʻo, inā ulu kekahi mea i loko o ka iwi me ke kumu ʻole, e loli ke ʻano o kēlā iwi, ʻeā? Pēlā nō ia. Hiki ke hana ʻia nā mea e like me ka pōkole ʻana o nā lālā, ke kīkoʻo ʻana, a me nā haki.

3. ʻO nā Hemangioma he mau puʻupuʻu i ʻike ʻia he mau kīʻaha koko ʻē aʻe i hui pū ʻia ma luna o ka ʻili. Hiki ke ʻike ʻia kēia mau mea he ʻulaʻula, uliuli, a poni paha.

ʻO kēia mau ulu ʻana o ke cartilage, i kapa ʻia ʻo enchondromas, ʻo ia ka mea i loaʻa pinepine ʻia ma nā iwi o kou mau manamana lima a me nā manamana wāwae. Eia nō naʻe, hiki iā lākou ke hoʻopilikia i nā wahi aʻe:

• Nā mea kaua
• Nā wāwae
• Nā iwi ʻaoʻao
• Iwi poʻo
• Nā iwi kuamoʻo (vertebrae)

ʻO ka mea nui, ʻo kēia mau enchondromas i ka wā mua ʻaʻole ia he maʻi kanesa (benign), akā hiki i kekahi manawa ke lilo i malignant (malignant). ʻO kahi helu nui o ka poʻe me ka maʻi Maffucci (a hiki i ka 50% e like me kekahi mau noiʻi) e piʻi aʻe ana ka pilikia o ka hoʻomohala ʻana i kahi ʻano maʻi kanesa iwi i kapa ʻia ʻo chondrosarcoma, e hoʻomaka ana i loko o nā cell cartilage. Aia pū lākou i ka piʻi aʻe o ka pilikia o ka hoʻomohala ʻana i nā ʻano maʻi kanesa ʻē aʻe.

Pehea ka maʻamau o ka Maffucci Syndrome?

ʻO ka ʻoiaʻiʻo, he maʻi laha ʻole kēia. He mau haneli wale nō nā hihia i hōʻike ʻia ma nā moʻolelo lapaʻau ma ka honua holoʻokoʻa, no laila ʻaʻole ia he mea kupanaha inā ʻaʻole ʻoe i lohe mua.

He aha nā hōʻailona o ka Maffucci Syndrome?

Hiki ke ʻokoʻa nā hōʻailona o ka maʻi Maffucci mai kēlā kanaka a kēia kanaka. Loaʻa paha i kekahi poʻe nā hōʻailona palupalu loa, aʻo kekahi poʻe he ʻoi aku ka koʻikoʻi o nā hōʻailona. Hiki ke loaʻa kēia mau hōʻailona i ka wā hānau, a i ʻole e hoʻomaka paha lākou e ʻike ʻia i ka wā kamaliʻi.

ʻO nā hōʻailona nui i hoʻokumu ʻia e kēlā mau puʻupuʻu cartilage a mākou i kamaʻilio ai i kapa ʻia ʻo "enchondromas." Hiki iā lākou ke hana i nā mea e like me:

• ʻEha iwi
• Haʻihaʻi iwi - Hiki i ka iwi ke haki me ka hāʻule iki ʻana.
• Nā lima a i ʻole nā ​​wāwae i kūlou
• Nā iwi pehu - ʻike ʻia e like me nā puʻu.
• ʻO ke kuamoʻo piʻo - ua like ia me ka scoliosis.
• Osteolysis ( ka haki ʻana o ka iwi )
• Kino pōkole
• Nā lima a i ʻole nā ​​wāwae like ʻole - ʻoi aku ka lōʻihi a i ʻole ka pōkole o kekahi ma mua o kekahi.

ʻO nā ʻōpū koko, i ʻike ʻia ʻo hemangiomas, hiki ke hana i nā hōʻailona e like me:

• Nā ʻūpā koko
• Lymphangiomas - Ua like kēia me nā puʻu i piha i ka wai lymph.
• Nā puʻupuʻu ʻulaʻula, poni, a polū paha ma ka ʻili (hemangiomas) - ʻike pinepine ʻia ma nā lima. I ka hala ʻana o ka manawa, hiki i kēia mau mea ke lilo i paʻakikī a ʻōpala.
• Nā ʻiʻo i hoʻomohala ʻole ʻia - ma ka wahi i hoʻopilikia ʻia.

He aha ke kumu o ka Maffucci Syndrome?

He maʻi hoʻoilina ka maʻi Maffucci. ʻO ia hoʻi, ua hoʻokumu ʻia e kahi loli (mutation) i loko o kā mākou mau genes. ʻO ke kikoʻī, ua hoʻokumu ʻia e kahi loli kaulele i kekahi o nā genes ʻelua i kapa ʻia ʻo `IDH1` (ka mea maʻamau) a i ʻole `IDH2` (kākaʻikahi). Manaʻo nā kānaka noiʻi e hana ʻia kēia mutation genetic i ka wā e noho ana ke keiki i loko o ka ʻōpū, ʻo ia hoʻi, ma mua o ka hānau ʻana. Kōkua kēia mau genes `IDH` i ka hana ʻana i nā `(enzymes)` he mea nui no ka hana ʻana o nā cell i loko o ko mākou kino. Eia naʻe, ʻaʻole i hiki i nā kānaka ʻepekema ke ʻike i ka pilina pololei ma waena o kēia mau `(enzymes)` a me ka maʻi Maffucci.

ʻO ka mea nui loa , ʻaʻole kēia he maʻi hoʻoilina. ʻO ia hoʻi, ʻaʻole ia he mea e hiki ke hoʻoili ʻia mai kekahi hanauna a i kekahi hanauna no ka mea ua loaʻa i nā mākua. He hoʻololi genetic maʻamau kēia.

Pehea e ʻike ʻia ai ka Maffucci Syndrome?

Hiki i kēia mau hoʻokolohua ke kōkua i ke kauka e ʻike i ka maʻi Maffucci:

• Hoʻokolokolo kino: E nānā ke kauka iā ʻoe a nānā i nā hōʻailona i ʻike ʻia (e like me nā puʻupuʻu a i ʻole nā ​​​​​​deformities). E nīnau pū lākou e pili ana i kāu mau hōʻailona a inā paha ua loaʻa i kekahi o kou ʻohana nā kūlana like.
• Nā kiʻi X-ray a i ʻole CT scans: Hiki i kēia ke kiʻi i nā kiʻi maopopo o kou mau iwi. A laila hiki iā lākou ke ʻike inā he mau enchondromas, pehea ka mamao o ko lākou pālahalaha ʻana, a inā he pōʻino iwi.
• Ke lawe ʻana i nā hāpana ʻiʻo ma o ke ʻoki ʻana a me ka nānā ʻana iā lākou (`Biopsy`):I kekahi manawa, wehe ʻia kahi ʻāpana liʻiliʻi o ka ʻiʻo mai kahi wahi kānalua (e like me ka iwi a i ʻole ka puʻupuʻu ʻili) ma ke ʻoki ʻana a nānā ʻia ma lalo o kahi microscope. ʻO kēia ka mea e hoʻoholo ai he paʻa.

He aha ke ʻano o nā kauka lapaʻau e mālama nei i ka Maffucci Syndrome?

Inā loaʻa iā ʻoe ka maʻi Maffucci, e hui pū paha kahi hui o nā loea like ʻole e mālama iā ʻoe. Eia kekahi laʻana:

• Kauka ʻili: Kōkua i ka mālama ʻana, hōʻemi ʻana, a i ʻole, inā pono, e wehe i nā ulu ʻili e like me hemangiomas.
• Kauka lapaʻau Orthopedic: Mālama i nā haki, hoʻoponopono ʻoki i nā kīnā o ka iwi, a hiki ke wehe i nā enchondromas me ke ʻoki.
• ʻO ke kauka maʻi Orthopedic: Inā ulu kahi maʻi kanesa e like me ka chondrosarcoma a mākou i kamaʻilio ai ma mua, kōkua kēia mau kauka i ka wehe ʻana a nānā i ka maʻi i ke ola holoʻokoʻa e ʻike inā e hoʻi hou mai.
• Radiologist: He loea lākou i ke kiʻi lapaʻau, e like me nā X-ray a me nā scan CT, a he mea nui i ka loiloi ʻana i nā loli o nā iwi i ka hala ʻana o ka manawa.

Pehea e mālama ʻia ai ka Maffucci Syndrome?

ʻO kaʻoiaʻiʻo, ʻaʻohe ala e ho'ōla loa ai i ka maʻi Maffucci. No laila, ʻo nā pahuhopu nui o ka mālama ʻana:

• Ka ʻike mua ʻana i ke kanesa a me ka hāʻawi ʻana i ka lāʻau lapaʻau ʻoi aku ka maikaʻi.
• Ke kāohi ʻana a i ʻole ka mālama ʻana i nā haki iwi.
• Ka hōʻemi ʻana i nā hōʻailona e like me ka ʻeha.

E kauoha pinepine kāu hui lapaʻau i nā hoʻokolohua kiʻi lapaʻau (e like me nā X-ray) e nānā i kou mau iwi. Inā ke hoʻopilikia nei nā enchondromas a i ʻole nā ​​​​pilikia iwi i kāu mau hana o kēlā me kēia lā, hiki i nā lāʻau lapaʻau ke komo pū me:

• Ke kau nei i nā pale pale a i ʻole ke ʻoki ʻana e hoʻoponopono i ka scoliosis.
• Nā hoʻolei, nā splints, a me ke ʻoki kino no nā iwi haʻihaʻi.
• E hōʻemi i ka ʻokoʻa o ka lōʻihi o nā wāwae me nā kāmaʻa kūikawā (nā hāpai kāmaʻa), nā lāʻau lapaʻau, a i ʻole ke ʻoki kino.
• ʻO ke ʻoki kino e hoʻoponopono ai i nā kīnā ma nā lima.
• Hiki ke wehe ʻia (Enchondromas) ma ke ʻoki ʻana. Eia nō naʻe, hiki i kēia mau mea ke hana hou.

Inā hoʻopilikia nā hemangiomas ma kou ʻili, hiki i kāu kauka ke ʻōlelo aku i kahi lāʻau i kapa ʻia ʻo sclerotherapy. Pili kēia i ka hoʻokomo ʻana i kahi hopena i loko o ka ʻili e hoʻēmi i nā ulu ʻana. Inā pono, hiki ke wehe ʻia nā hemangiomas ma ke ʻoki ʻana.

Hiki ke pale ʻia ka Maffucci Syndrome?

E like me kā mākou i kūkākūkā ai ma mua, ʻaʻole maopopo loa i nā kānaka ʻepekema pehea e hana ai ka hoʻololi ʻana o ka genetic e hoʻokumu ai i kēia. No laila, ʻaʻohe ala kikoʻī e pale aku ai i kēia manawa.

He aha ka wā e hiki mai ana o kekahi me ka Maffucci Syndrome?

He maʻi mau loa ka maʻi Maffucci a no ke ola holoʻokoʻa. Loaʻa paha i kekahi poʻe nā pilikia kino liʻiliʻi wale nō, ʻaʻole paha e nui ka hopena i kā lākou hana o kēlā me kēia lā. Eia nō naʻe, no kekahi poʻe, ʻoi aku ka koʻikoʻi o nā pilikia iwi, a piʻi aʻe paha nā palena kino.

ʻO ka mea nui, ʻaʻole kēia kūlana e hoʻopilikia i ka naʻauao. Eia nō naʻe, inā ulu ka maʻi kanesa, aia ka manawa kūpono e hoʻopōkole ai i ka manaʻolana o ke ola.

Pehea e mālama ai iaʻu iho ma ke ʻano he kanaka me ka Maffucci Syndrome?

No ka mea, ʻoi aku ka nui o ka pilikia o ka poʻe me ka maʻi Maffucci i ka loaʻa ʻana o ka maʻi kanesa, he mea nui e loaʻa nā hoʻokolohua maʻamau e like me ka ʻōlelo a kāu hui lapaʻau. ʻO ka mua o ka ʻike ʻia ʻana o kahi maʻi kanesa, ʻoi aku ka nui o ka hiki ke mālama ʻia.

He aha ka ʻokoʻa ma waena o ka maʻi Ollier a me ka maʻi Maffucci?

ʻO ka maʻi ʻo Ollier a me ka maʻi ʻo Maffucci nā kūlana ʻelua e ulu ai nā ʻōpū cartilage i kapa ʻia ʻo enchondroma. Eia nō naʻe, i ka maʻi ʻo Maffucci, ʻike ʻia nā ʻōpū aʻa koko i kapa ʻia ʻo hemangiomas. ʻAʻohe hemangiomas o ka maʻi ʻo Ollier. ʻO ia ka ʻokoʻa nui.

Aia kekahi mau inoa ʻē aʻe no ka Maffucci Syndrome?

No ka mea he mea kākaʻikahi loa ia, ua kapa ʻia ke ʻano ma nā inoa ʻē aʻe i kekahi manawa, akā ʻaʻole lākou i like ka maʻamau. Eia kekahi mau laʻana:

• `(Chondrodysplasia me ka hemangioma)`
• `(Dyschondroplasia a me ka hemangioma cavernous)`
• `(Enchondromatosis me ka hemangiomata)`
• `(Kast syndrome)`

ʻOiai he nui nā inoa e like me kēia, ʻo ka inoa i hoʻohana nui ʻia ʻo Maffucci Syndrome.

ʻO ka mea hope loa, leka lawe i ka home

Inā ua ʻike ʻia ʻoe a i ʻole kāu keiki me ka Maffucci Syndrome, hiki ke lilo i mea kaumaha iki. Pono ʻoe e hopohopo e pili ana i nā haki a me ke kanesa iwi no ke koena o kou ola. Hiki nō hoʻi ke luhi ka ʻike ʻana i nā loea like ʻole a me nā hoʻokolohua pinepine.

Akā, ʻo ke akahele e like me kēia, ʻoiai ka hoʻāʻo mua ʻana no ka maʻi kanesa, hiki ke kōkua nui i ka hoʻopakele ʻana a i ʻole ka hoʻolōʻihi ʻana i kou ola. ʻO ka ʻike mua ʻana a me ka mālama ʻana i ka maʻi kanesa ke ala maikaʻi loa e hoʻomaikaʻi ai i kou olakino. E haʻi aku kāu kauka iā ʻoe i nā hōʻailona e makaʻala ai.

Mai hopohopo. ʻAʻole ʻoe hoʻokahi. Aia nā kauka a me nā hui kākoʻo e kōkua a alakaʻi i ka poʻe e noho nei me kēia mau maʻi kakaikahi. ʻO ka mea nui loa, ʻo ia ka loaʻa ʻana o ka ʻike kūpono a hahai i ka ʻōlelo aʻo a kāu kauka.

ʻO ka maʻi Maffucci, nā maʻi iwi, ka cartilage, hemangioma, ka pilikia o ka maʻi kanesa, nā maʻi genetic, nā maʻi laha ʻole