He mānoanoa loa kou lima a i ʻole kou wāwae? E aʻo kākou e pili ana i kēia maʻi iwi laha ʻole (Melorheostosis)!

Ke manaʻo nei ʻoe a i ʻole kāu keiki i kekahi manawa i kahi mānoanoa ʻē a ʻoʻoleʻa paha i ka lima a i ʻole ka wāwae, a i ʻole he ʻano lāʻau wale nō? A i ʻole ke ʻano momona o kekahi lima a wāwae paha ma mua o kekahi? ʻAʻole hiki iā ʻoe ke kulou a hoʻopololei paha i kahi hui pono mai kou wā kamaliʻi a loaʻa iā ʻoe ka ʻeha? ʻAʻole kēia he mau mea wale nō. I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi iwi kakaʻikahi loa e hiki ke kumu o kēia mau mea.

He aha kēia maʻi ʻē (Melorheostosis)?

I ka ʻōlelo maʻalahi, he maʻi iwi kakaʻikahi loa ʻo Melorheostosis. Ma kēia, hoʻomaka ka ʻiʻo iwi hou e hana ʻia ma nā papa o waho o ko kākou mau iwi, i kapa ʻia ʻo nā iwi cortical. E noʻonoʻo e like me ka hoʻohui ʻana i kahi papa plaster ʻē aʻe i ka paia, a hoʻokumu ʻia ka iwi hou aʻe ma luna o kekahi o ko kākou mau iwi. No laila he aha ka mea e hana ʻia? E mānoanoa a mānoanoa ana kēlā iwi.

Hoʻopilikia pinepine ia i kekahi ʻaoʻao o ke kino, ma ka lima a i ʻole ka wāwae. Eia nō naʻe, hiki iā ia ke hoʻopilikia i nā iwi ʻē aʻe, e like me ka ʻūhā a i ʻole ka sternum. Hoʻomaka pinepine nā hōʻailona i ka wā kamaliʻi a i ʻole ka wā ʻōpio .

ʻO kekahi mea kūikawā e pili ana i kēia, ʻo ia ke ʻano o kēia iwi i hana hou ʻia ma kahi X-ray. Ua wehewehe nā kauka iā ia me he mea lā ua kahe ka wax i hoʻoheheʻe ʻia mai ke kukui a ke kahe nei . ʻO ia ke kumu i kapa ʻia ai ʻo ia ke ʻano o ka 'dripping candle wax'. He mea kupanaha loa ia, ʻeā?

ʻO Meloriostosis kekahi ʻano o ka dysplasia skeletal. Ua kapa ʻia hoʻi ia ʻo ka maʻi Leri.

Pehea i loaʻa ai ka inoa "meloriostosis"?

ʻO ka huaʻōlelo 'Melorheostosis' paha he mea paʻakikī ke lohe ʻoe, ʻeā? Akā i kou ʻike ʻana i ke ʻano o kēia inoa, hiki iā ʻoe ke loaʻa kahi manaʻo e pili ana i kēia maʻi. Ua hoʻokumu ʻia kēia inoa ma ka hui pū ʻana o ʻekolu mau huaʻōlelo ma ka ʻōlelo Helene. E nānā kākou he aha lākou?

• ʻO ke ʻano o ka huaʻōlelo 'Melos' he lima a he wāwae paha , ʻo ia hoʻi, he ʻāpana o ko mākou kino.
• ʻO ke ʻano o 'Rheos' he kahe . E like me ka muliwai e kahe ana.
• ʻO ke ʻano o 'Ostosis' ka hoʻokumu ʻia ʻana o ka iwi .

I kēia manawa ua maopopo iā ʻoe, ʻeā? Ke hui pū ʻia kēia mau huaʻōlelo ʻekolu, hōʻike ka inoa i ke ʻano o ka hoʻokumu ʻia ʻana o ka iwi, e like me ka wax e pakele ana mai ke kukui a mākou i kamaʻilio ai ma mua. He inoa kūpono loa ia, ʻeā?

Pehea ka hopena o ka meloriostosis i ke kino?

Inā loaʻa iā ʻoe a i ʻole kāu keiki ka meliorostosis, hiki i nā iwi mānoanoa a hoʻonui ʻia ke kaupalena i kou laulā o ka neʻe ʻana. No ka laʻana, ʻaʻole paha ʻoe e hiki ke hāpai pono i kahi lima a kūlou a hoʻopololei paha i kahi wāwae. Hiki iā ʻoe ke loaʻa i nā deformities hui (contractures). ʻO ke ʻano kēia e paʻa ana kahi hui i kahi. Hiki i kekahi poʻe ke ʻeha nui.He hiki nō paha ia ke hana ʻia.

Me kēia mau loli i nā iwi, e ʻike paha ʻoe i nā loli i ka ʻili . Hiki i ka ʻili ke mānoanoa a ʻālohilohi paha, me he mea lā ua hoʻowali ʻia.

ʻO ka mea maikaʻi loa, ʻaʻole e laha ka meloriostosis mai kekahi iwi a i kekahi. ʻO ke ʻano kēia, inā aia ma kekahi lima, ʻaʻole ia e laha i kekahi. Eia nō naʻe, hiki i ke kūlana ke lilo i mea ʻino iki aʻe i ka hala ʻana o ka manawa. ʻO ke ʻano kēia, hiki ke hoʻonui ʻia ka ʻeha a hiki ke kaupalena ʻia ka neʻe ʻana.

Pehea ka maʻamau o kēia maʻi?

He maʻi laha ʻole loa ʻo Meloriostosis. He mea laha ʻole loa ia, a ʻōlelo nā loea ua loaʻa kēia maʻi i hoʻokahi o ka miliona o ka poʻe ma ka honua holoʻokoʻa. ʻO ia hoʻi, ʻoiai ma Sri Lanka, he kakaikahi loa kēia mau maʻi.

No ke aha e hana ʻia ai kēia meloriostosis? He aha ke kumu?

E kahaha paha ʻoe i ka lohe ʻana i kēia. No kekahi poʻe, ma kahi o hoʻokahi i loko o ʻelua, ka poʻe i loaʻa i kēia maʻi, ʻo ke kumu he mutation genetic. Loaʻa iā mākou kahi gene i kapa ʻia ʻo `MAP2K1` i loko o ko mākou kino. Hana kēia gene i kahi protein kūikawā e kāohi ana i ka ulu ʻana o ko mākou mau cell iwi. No laila, inā he loli, ʻo ia hoʻi, he `mutation`, i loko o kēia gene `MAP2K1`, hiki ke hana ʻia kēia kūlana o ka meloriostosis.

ʻO ka mea nui, ʻo ia ka hiki ʻana mai o kēia ʻano hoʻoilina ma ke ʻano "sporadically". ʻO ia hoʻi, ʻaʻole ia he mea i hoʻoilina ʻia mai nā mākua mai. E noʻonoʻo wale, e like me ka lotiri, hiki ke hiki mai kēia ʻano hoʻoilina i kekahi ma ka hanana.

Eia naʻe, ʻaʻole nā ​​kānaka a pau me ka meloriostosis i loaʻa kēia hoʻololi ʻana o ka gene `MAP2K1`. Aia kekahi poʻe ʻē aʻe i loaʻa i kēia maʻi me ka ʻole o kēia hoʻololi ʻana o ka gene. No laila, i ia mau hihia, ʻaʻole i hiki i nā kauka ke ʻike pono i ke kumu o kēia maʻi. Ke hana ʻia nei nā noiʻi hou aku ma ia mea.

He aha nā hōʻailona o ka meloriostosis?

Ma kahi o hoʻokahi i loko o ʻelua mau kānaka me ka meloriostosis e hoʻomaka e hōʻike i nā hōʻailona ma mua o 20 mau makahiki. I ka manawa pinepine, hoʻomaka kēia mau hōʻailona i ka wā kamaliʻi, i kekahi manawa i loko o kekahi mau lā o ka hānau ʻana . I ka hala ʻana o ka manawa, e lilo paha kēia mau hōʻailona i mea koʻikoʻi .

ʻIke pinepine ʻia kēia mau hōʻailona ma ka lima a i ʻole ka wāwae. Eia nō naʻe, he mea kākaʻikahi loa, hiki iā ʻoe a i ʻole kāu keiki ke ʻike i kēia mau hōʻailona ma nā wahi ʻē aʻe, e like me ka ʻūhā, ka iwi waena o ka umauma (sternum), a i ʻole nā ​​iwi ʻaoʻao. E nānā kākou i nā hōʻailona nui:

• ʻEha mau loa: ʻO ia hoʻi ka ʻeha e mau ana no ka manawa lōʻihi. ʻO kēia ka pilikia nui no nā poʻe he nui.
• ʻIli mānoanoa a ʻālohilohi paha: Me he mea lā ua wili ʻia ka ʻili. Hiki ke paʻa ke pā.
• Ka pehu ʻana ma ka lima a i ʻole ka wāwae: Hiki ke hana ʻia kēia pehu ʻana e ka paʻa ʻana o ka wai (edema) a i ʻole ka pehu ʻana o nā lymph nodes (lymphedema).
• Ka palena o ka neʻe ʻana:Eia kekahi laʻana, ʻaʻole hiki ke kulou piha i ke kuʻekuʻe a i ʻole e hoʻolōʻihi piha i ke kuli.
• ʻAtrophy uaua: Hiki i nā ʻiʻo ma ka lima a i ʻole ka wāwae i hoʻopilikia ʻia ke atrophy mālie.
• ʻAʻole like ka lōʻihi o ka lima a i ʻole ka wāwae: ʻOi aku ka pōkole o kekahi lima ma mua o kekahi, a ʻoi aku paha ka pōkole o kekahi wāwae ma mua o kekahi. Hiki i kēia ke pilikia i ka hele wāwae.

Pehea e ʻike ʻia ai ka meloriostosis?

Hoʻohana nui nā kauka i nā hoʻokolohua kiʻi kūikawā e ʻike i ka meloriostosis.

Ma waena o lākou:

• Nā scan iwi: ʻO kēia ke komo ʻana i kahi liʻiliʻi o kahi mea radioactive i loko o ke kino a laila nānā iā ia me kahi kāmela kūikawā. ʻAe kēia i kahi ʻike maopopo o nā ʻano ʻē i loko o nā iwi.
• Nā kukuna X: He mea paha kēia āu i ʻike ai. Hoʻohana ia i kahi haʻahaʻa o ka radiation e nānā i nā iwi a me nā ʻiʻo palupalu. Ke nānā ʻoe i kahi kukuna X o kekahi me ka meloriostosis, e ʻike ʻoe i kēlā ʻano "dripping wax" a mākou i ʻōlelo ai ma mua. He hōʻailona koʻikoʻi loa kēia i ka ʻike ʻana i kēia maʻi.

Ma waho aʻe o kēia mau hoʻokolohua kiʻi, i kekahi manawa hiki i nā kauka ke ʻōlelo aku i ka hoʻāʻo genetic . Hana ʻia kēia ma ka lawe ʻana i kahi hāpana koko. Ke nānā nei kēia mau hoʻokolohua genetic i ke alo o ka mutation gene MAP2K1 a mākou i kamaʻilio ai ma mua.

He aha nā lāʻau lapaʻau no kēia? Hiki ke ho'ōla ʻia?

ʻO kaʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau no ka meloriostosis. He mea kaumaha paha kēia ke lohe ʻia. Akā, mai hopohopo. Nui nā lāʻau lapaʻau e hiki ke kōkua iā ʻoe a me kāu keiki e ola i kahi ola maikaʻi aʻe ma o ka kaohi ʻana i nā hōʻailona.

Hoʻomaopopo pinepine nā kauka i nā lāʻau lapaʻau e like me kēia e hōʻemi i ka ʻeha a hoʻomaikaʻi i ka hana o ke kino:

• Hoʻōla kino: Pili kēia i ka hoʻohana ʻana i nā hoʻoikaika kino kūikawā a me nā lāʻau lapaʻau e kōkua i ka hoʻonui ʻana i ka ikaika o ke kino a hoʻonui i ka laulā o ka neʻe ʻana o nā hono. Eia kekahi laʻana, inā pilikia ʻoe i ke kulou ʻana i kou lima, e aʻo ʻia paha ʻoe i nā hoʻoikaika kino e kōkua ai.
• Hoʻōla hana: Kōkua kēia i ka hoʻomohala ʻana i nā mākau kaʻa maikaʻi. ʻO ia hoʻi, nā hana liʻiliʻi i hana ʻia me nā manamana lima, e like me ke pihi ʻana, ke kākau ʻana, a pēlā aku. Eia kekahi, ʻo ke kōkua ʻana i ke keiki e hana i nā hana o kēlā me kēia lā me ke kūʻokoʻa, e like me ka ʻauʻau ʻana a me ke kapa ʻana, he ʻāpana ia o kēia lāʻau lapaʻau.
• Nā lāʻau lapaʻau:
• Nā lāʻau hoʻopau ʻeha: Hāʻawi ʻia nā lāʻau hoʻopau ʻeha, e like me nā lāʻau anti-inflammatory non-steroidal (NSAID), e hōʻemi i ka ʻeha.
• Nā Bisphosphonates: Hāʻawi ʻia kēia mau mea e hoʻoikaika i nā iwi.
• ʻO ke ʻoki kino:I kekahi mau hihia, pono paha ke ʻoki ʻana e wehe i ka iwi keu i hana hou ʻia a i ʻole e hoʻoponopono hou i ka iwi. Eia nō naʻe, hana ʻia kēia inā ʻaʻole hāʻawi nā lāʻau ʻē aʻe i ka hōʻoluʻolu.

He mea nui: ʻAʻole kūpono kēia mau lāʻau lapaʻau a pau no nā kānaka a pau. Na kāu kauka e hoʻoholo i ka lāʻau lapaʻau kūpono loa no kou kūlana.

Aia kekahi ala e pale aku ai i ka ulu ʻana o ka meloriostosis?

He nūhou kaumaha iki kēia. No ka mea, he maʻi ka meloriostosis e kū koke mai ana, ʻo ia hoʻi, hiki mai ia me ke kumu ʻole , ʻaʻohe mea hiki iā mākou ke hana e pale aku ai i kona ulu ʻana. Pili ia i kahi mutation genetic, no laila he mea ia ma waho o ko mākou mana.

He aha nā hopena lōʻihi o kēia maʻi?

ʻAʻole ʻo Meloriostosis he maʻi ʻaʻai. No laila, ʻaʻohe mea e hopohopo ai. Eia kekahi, ʻaʻole kēia maʻi e hoʻopōkole i kou ola. ʻO kēia ka nūhou maikaʻi loa.

Eia nō naʻe, hiki i kēia maʻi ke kaupalena i ka hana a me ka neʻe ʻana o ke kino. Pono paha ʻoe e noho me nā mea e like me ka ʻeha a me ka pehu ʻana i nā hono. Eia nō naʻe, me ka hoʻolālā lapaʻau kūpono, hiki i ka poʻe me ka meloriostosis ke ola i kahi ola kiʻekiʻe. ʻO ia hoʻi, hiki iā lākou ke noho hauʻoli a hana i kā lākou hana ponoʻī e like me nā mea ʻē aʻe.

He aha hou aʻe kaʻu e nīnau aku ai i ke kauka?

Inā loaʻa iā ʻoe a i kāu keiki paha nā hōʻailona o ka meloriostosis, a ua ʻike mua ʻia paha me ke ʻano, he mea nui e nīnau i kāu kauka i nā nīnau e like me kēia:

• "He aha nā hōʻailona mua o ka meloriostosis?"
• "He aha nā hoʻokolohua e pono iaʻu e hana e ʻike pono ai i kēia maʻi?"
• "He aha nā koho lapaʻau e loaʻa iaʻu? ʻO wai ka lāʻau lapaʻau maikaʻi loa iaʻu?"
• "He aha ka mea e hiki ke hana inā ʻaʻole au e mālama i kēia?"
• "He aha kaʻu e hana ai e hoʻomaikaʻi i koʻu ola me ka meloriostosis?"

E nīnau i kēia mau nīnau e loaʻa ai kahi ʻike maikaʻi aʻe i kou kūlana. E kamaʻilio ākea me kāu kauka.

Aia kekahi mau maʻi ʻē aʻe me nā hōʻailona like me ka meloriostosis?

ʻAe, aia kekahi mau kūlana ʻē aʻe e hiki ke hana i nā hōʻailona like me nā mea o ka meloriostosis. E kāpae kāu kauka i kēia mau kūlana i ka wā e hana ai i kahi hōʻailona. ʻO kekahi o kēia mau kūlana:

• ʻO ka maʻi Buschke-Ollendorff
• ʻO ka puʻupuʻu desmoid
• Hemangioma
• ʻOsteopathy
• ʻO ka Osteopoikilosis
• ʻO ka ʻeha koko

ʻO kēia ke kumu he mea nui loa ka hana ʻana i kahi hōʻoia pololei.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai

He maʻi iwi laha ʻole ka Melorheostosis.ʻO kēia ka wā e hoʻokumu ʻia ai nā ʻiʻo iwi hou ma luna o ka iwi e kū nei. Hoʻopilikia pinepine ia i kekahi lima a i ʻole ka wāwae. ʻOiai ʻaʻole ia e laha mai kekahi iwi a i kekahi, hiki i ke kūlana ke ʻoi aku ka ʻino i ka hala ʻana o ka manawa.

Inā loaʻa iā ʻoe ka meloriostosis, mai hopohopo. Aia nā lāʻau lapaʻau i loaʻa, e like me ka lāʻau lapaʻau, ka hoʻōla kino, ka hoʻōla hana, a i ʻole ke ʻoki kino. Hiki i kēia mau lāʻau lapaʻau ke kōkua iā ʻoe e hōʻemi i ka ʻeha, hoʻi i nā hana maʻamau, a ola i kahi ola maikaʻi aʻe. ʻO ka mea nui loa, ʻo ia ke ʻimi koke i ke aʻo lapaʻau inā loaʻa iā ʻoe nā hōʻailona a hahai pono i nā ʻōlelo a kāu kauka.

ʻO Melorheostosis, maʻi iwi, ulu ʻana o ka iwi, ʻeha hui, nā kapu neʻe ʻana, nā hoʻololi hoʻoilina, nā maʻi pediatric