He mau puʻupuʻu ko kāu keiki ma ko lākou mau iwi? E aʻo kākou e pili ana i ka HMO (Hereditary Multiple Osteochondromas)!

Ua ʻike paha ʻoe i nā puʻupuʻu liʻiliʻi ma ke kino o kāu keiki liʻiliʻi, ʻoi aku hoʻi ma ko lākou mau lālā. I kekahi manawa hiki ke ʻeha a ʻeha ʻole paha kēia. Mai hopohopo , ʻaʻole weliweli nā puʻupuʻu āpau. Eia naʻe, i kēia lā e kamaʻilio mākou e pili ana i kahi kūlana e hōʻike ana i kēia mau hōʻailona, ​​​​ʻaʻole maʻamau loa akā he mea nui loa ia no kākou āpau e makaʻala. Ua kapa ʻia kēia kūlana ʻo HMO, ʻo ia hoʻi ke kū nei no 'Hereditary Multiple Osteochondromas'.

He aha ka HMO (Hereditary Multiple Osteochondromas)?

I ka ʻōlelo maʻalahi, he maʻi genetic ka HMO. Hoʻokumu ʻia ia e kahi loli liʻiliʻi, a i ʻole mutation, i loko o kā mākou mau genes, a i ʻole ke kumu hoʻolālā kumu e hoʻoholo ai i ke ʻano o ka ulu ʻana o ko mākou kino. ʻO kēia loli ke kumu o kekahi o ko mākou mau iwi e ulu ai nā puʻupuʻu benign, a i ʻole nā ​​​​​​mea ʻino ʻole , a mākou e kapa nei i ka lāʻau lapaʻau he osteochondroma , a hoʻomaka lākou e ulu nui. ʻAʻole kēia he maʻi kanesa maoli, no laila ʻaʻohe mea e hopohopo ai.

Aia kekahi mau inoa ʻē aʻe no kēia HMO?

ʻAe, hiki paha iā ʻoe ke ʻike i kekahi mau inoa ʻē aʻe ke ʻimi ʻoe i kēia maʻi. Hoʻohana pinepine nā kauka i kēia mau inoa:

• ʻO ka ʻeha hoʻoilina o nā Osteochondromas he nui (HMO) (ʻo ia ka mea i hoʻohana nui ʻia i kēia manawa)
• ʻO Nā Exostoses Hereditary Nui (ʻo kēia ka inoa maʻamau ma mua)
• ʻO ke aklasi diaphyseal

ʻAʻohe mea he inoa āu e hoʻohana ai, ʻo ia nō ke ʻano olakino like. No laila, inā ʻike ʻoe i kekahi o kēia mau inoa, mai huikau, ʻeā?

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No laila he aha kēia osteochondrosis?

ʻO ka Osteochondroma, e like me kaʻu i ʻōlelo ai ma mua, he puʻupuʻu iwi ʻaʻole ia he maʻi kanesa, ʻo ia hoʻi, he ʻano maikaʻi ʻole . E noʻonoʻo, hana ʻia kēia mau puʻupuʻu i ka wā e hoʻomaka ai nā pūnaewele i loko o ko kākou mau iwi e ulu ma ke ʻano ʻē aʻe a ʻano ʻē.

Hoʻomohala pinepine kēia mau puʻupuʻu ma ka ʻili pālahalaha o ka iwi a i ʻole ma ke kino palupalu i kapa ʻia ʻo cartilage ma nā wēlau o nā iwi, i kapa ʻia ʻo growth plates, nā mea e kōkua ai i nā keiki e ulu a ulu ko lākou mau iwi. Uhi ʻia kēia mau puʻupuʻu e kahi pāpale cartilage. ʻO ka mea nui, ʻaʻole lākou he maʻi kanesa , no laila ʻaʻole lākou e laha ma ke kino holoʻokoʻa. ʻAʻole anei he mea hōʻoluʻolu nui kēlā?

ʻO wai ka mea hiki ke loaʻa i kēia maʻi? Pehea ka maʻamau?

Hoʻomaopopo pinepine nā kauka i ka HMO i ka wā kamaliʻi a i ʻole ka wā ʻōpio . Hiki iā ia ke hoʻopilikia like i nā keikikāne a me nā kaikamahine .

Eia nō naʻe, ʻaʻole maʻamau ka HMO. Ma ke ʻano kikoʻī, hoʻopilikia ia ma kahi o hoʻokahi i loko o 50,000 mau kānaka. No laila, ʻaʻole ia he mea kupanaha inā ʻaʻole ʻoe i lohe e pili ana i ia mea.

He aha ke kumu o ka HMO? Aia kekahi pilina hoʻoilina?

ʻAe, he maʻi hoʻoilina ka HMO. ʻO ia hoʻi, pili ia i ko kākou mau genes.

Loaʻa iā ia he kanaiwakūmāiwa pakeneka (90%) o ka poʻe me HMO inā he loli, a he mutation paha , i loko o nā genes i kapa ʻia ʻo EXT1 a i ʻole EXT2 (ʻo kēia mau genes nā kuhikuhi i loko o kā mākou DNA e haʻi ana i ko mākou kino pehea e hana ai i kekahi mau protein koʻikoʻi). ʻO ka mea pōʻino, ʻaʻole i loaʻa ke kumu genetic pololei e hoʻopilikia ai i nā 10 pakeneka ʻē aʻe (10%) .

ʻO ka hapa pinepine , hoʻoili ʻia kēia mau hoʻololi genetic mai nā mākua a i nā keiki . ʻO ia hoʻi, inā loaʻa i ka makuahine a i ʻole ka makuakāne ka hoʻololi ʻana, hiki i ke keiki ke loaʻa. Eia nō naʻe, ʻaʻohe o kekahi o ko lākou mau mākua me ka HMO i loaʻa ka hoʻololi ʻana. ʻO ia hoʻi, inā ʻaʻohe mea o ka ʻohana i loaʻa ka HMO, i kekahi manawa hiki i kekahi ke loaʻa i ke kūlana no ka manawa mua. Ua kapa ʻia kēia he hoʻololi hou.

He aha nā hōʻailona o HMO? He aha nā ʻano mea āu e ʻike ai?

Hiki i ka HMO ke hana i nā puʻupuʻu ʻeha ma kekahi a ʻoi aku paha o nā iwi. Ua kapa ʻia kēia mau puʻupuʻu he osteochondroma. Eia kekahi, hiki iā ʻoe ke ʻike i nā hōʻailona e like me:

• Ka ulu ʻana o nā iwi ma ke ʻano ʻē , me nā loli i nā iwi o ka lima poʻohiwi. I kekahi manawa, ʻike ʻia paha ka lima ua hoʻolōʻihi iki ʻia.
• Nā haki pinepine o ka iwi a me ka haki ʻana o ka papa ulu.
• ʻOkoʻa ka lōʻihi o nā lālā. E noʻonoʻo i kekahi wāwae i pōkole iki ma mua o kekahi, a i ʻole kekahi lima i pōkole ma mua o kekahi.
• ʻAʻole hiki ke hoʻoneʻe pono i nā hono, ka manaʻo o ka ʻoʻoleʻa i nā hono.
• Hiki ke hana ʻia nā aʻalolo ʻuʻuku e nā iwi kuʻi, hiki ke hoʻoulu ai i ka ʻeha a me ka mae.
• ʻO ka osteoarthritis mua , ʻo ia hoʻi ke ʻano o ka ʻaʻahu mua ʻana o nā hono i ka wā ʻōpiopio.
• Nā pilikia kuʻekuʻe wāwae a kuli paha, ʻeha i ka wā e hele ai.
• ʻEha pōkole a me ka ʻeha lōʻihi . Hiki i kekahi manawa ke paʻakikī ke hoʻomanawanui i kēia ʻeha.
• Kino pōkole .

ʻOi aku ka ʻeha o kekahi mau keiki ke ulu kēia mau puʻupuʻu ma kahi kokoke i nā kīʻaha koko a i ʻole nā ​​aʻalolo. Eia nō naʻe, i kekahi manawa hiki i kēia mau puʻupuʻu ke ʻeha ʻole a ʻike wale ʻia he puʻupuʻu.

Mea nui: Inā ʻike ʻoe i kekahi mau puʻupuʻu e like me kēia ma ke kino o kāu keiki, a inā paha e hoʻopiʻi pinepine kāu keiki i ka ʻeha o ka iwi, e ʻoluʻolu e ʻike i ke kauka.

Ke laha nei kēia maʻi HMO mai kekahi kanaka a i kekahi?

ʻAʻole, ʻaʻole he maʻi lele ka HMO . ʻO ia hoʻi, ʻaʻole ia e laha mai kekahi kanaka a i kekahi ma ke pā ʻana a i ʻole ke kokoke ʻana, e like me ke anu. He maʻi hoʻoilina piha ia.

Eia nō naʻe, inā loaʻa iā ʻoe ka HMO, aia ma kahi o 50% ka manawa e hoʻoili ai ʻoe i ka hoʻololi ʻana o ka gene e hoʻoulu ai i kēia maʻi i kāu keiki.ʻAe. ʻO ia hoʻi, aia he 50% ka manawa kūpono i kēlā me kēia hāpai ʻana.

Pehea e ʻike ai nā kauka i ke kūlana HMO?

E ʻike paha ʻoe a i ʻole ke kauka o kāu keiki i kahi puʻupuʻu ma kahi a kokoke paha i ka iwi, a i ʻole nā ​​hōʻailona ʻē aʻe o HMO (e laʻa, ka pehu iki, ka ʻeha). E hana mua nā kauka:

1. Ke nīnau pono ʻana e pili ana i ka mōʻaukala olakino o ka ʻohana . Ke nānā nei inā ua loaʻa i kekahi o ka ʻohana kēia maʻi.

2. He hoʻokolokolo kino piha . Ke nānā ʻana i nā puʻupuʻu, ko lākou nui, a me ka neʻe ʻana o nā hono.

He aha ke ʻano o nā hoʻokolohua lapaʻau e hana ʻia?

Ma hope o ka hoʻokolokolo kino, ʻōlelo pinepine nā kauka i nā hoʻokolohua kiʻi e hōʻoia i ke kūlana o HMO.

• ʻO ka hana mua he X-ray pinepine. Hiki i kahi X-ray ke hōʻike maopopo i kēia mau puʻupuʻu osteochondroma.
• I kekahi manawa, no ka ʻike hou aku e pili ana i ka puʻupuʻu, a i ʻole e ʻike inā e hoʻopilikia ana i nā mea e like me nā aʻalolo, pono paha ʻoe e hana i kēia mau hoʻokolohua:
• ʻO ke kiʻi CT
• ʻO ka MRI )

Ma muli o ka ʻike i loaʻa mai kēia mau hoʻokolohua e hoʻoholo ai nā kauka inā he HMO a ʻaʻole paha.

Pehea e mālama ʻia ai ʻo HMO? He aha nā koho?

ʻAʻole like ka lāʻau no nā HMO no kēlā me kēia kanaka. Aia ia i kāu mau hōʻailona, ​​​​ka nui o nā puʻupuʻu, ko lākou wahi, a me nā hopena i loaʻa iā lākou . Hiki i nā kauka ke ʻōlelo i nā lāʻau lapaʻau e like me:

• Nānā ʻana i ka puʻupuʻu / kali makaʻala: I kekahi manawa, inā ʻaʻole ke kumu o ka puʻupuʻu i kekahi pilikia nui a ʻeha paha, hiki i nā kauka ke ʻōlelo aku e kali iki e ʻike inā ulu ka puʻupuʻu a i ʻole ke kumu o kekahi pilikia. Ua kapa ʻia kēia ʻo "kali makaʻala."
• Ka mālama ʻeha: Inā he ʻeha, hiki ke hāʻawi ʻia nā lāʻau lapaʻau (e like me ka paracetamol a i ʻole ibuprofen) e kāohi iā ia. I kekahi manawa pono paha nā lāʻau hōʻeha ʻeha ikaika.
• Hoʻōla kino: Aʻo ke kauka hoʻōla kino i nā hoʻomaʻamaʻa e kōkua i ka mālama ʻana i ka neʻe ʻana o nā hono a me ka hoʻoikaika ʻana i nā ʻiʻo. Hiki i kēia ke kōkua i ka hōʻemi ʻana i ka ʻeha.
• ʻO ke ʻoki kino:
• ʻO ke ʻoki ʻana e wehe i hoʻokahi a ʻoi aku paha nā puʻupuʻu: Inā ke kumu nei kahi puʻupuʻu i ka ʻeha hiki ʻole ke hoʻomanawanui, e kaomi ana i kahi aʻalolo, e hoʻopilikia ana i ka neʻe ʻana o kahi hui, a inā he kānalua paha he maʻi ʻaʻai ka puʻupuʻu, hiki ke wehe ʻia ka puʻupuʻu ma ke ʻoki ʻana.
• ʻO ke ʻoki kino e hoʻolōʻihi a hoʻopololei paha i nā lālā i ulu pono ʻole: Inā pōkole a kīkoʻo ʻia paha kahi lima a wāwae paha ma muli o HMO, aia nā ʻoki kino kūikawā e hoʻoponopono ai.

Hiki ke kū mai nā pilikia mai ka mālama ʻana?

Hiki i kekahi poʻe e hana ʻia ana i ke ʻoki ʻana e wehe i nā ʻōpū osteochondroma ke loaʻa nā ʻōpala.E like me nā ʻoki kino āpau, aia kahi pilikia liʻiliʻi o ka maʻi a i ʻole ka hōʻino ʻana o ke aʻalolo. Eia nō naʻe, hana nā kauka i kā lākou mea maikaʻi loa e hōʻemi i kēia mau pilikia.

Aia kekahi ala e pale aku ai i ke kūlana HMO?

ʻOiaʻiʻo, ʻaʻohe mea hiki iā ʻoe ke hana e pale aku i ka HMO no ka mea he maʻi genetic ia.

Eia nō naʻe, inā ʻike ʻoe he HMO ko kekahi o kou ʻohana, a ke hāpai nei ʻoe i kahi keiki, makemake paha ʻoe e noʻonoʻo i ka hoʻāʻo ʻana i ka genetic prenatal i ka wā hāpai e ʻike ai inā ua hoʻoilina kāu pēpē i ke kūlana. Eia kekahi laʻana:

• ʻO ka laʻana ʻana o Chorionic Villus (CVS)
• ʻAmniocentesis hoʻoilina

Hiki i kēia mau hoʻāʻo ke kōkua i ka hoʻoholo ʻana inā loaʻa i ka embryo ka HMO ma mua. I kekahi mau hihia, inā ʻoe e hoʻohana ana i nā ʻano hana insemination artificial (e like me IVF), hiki ke koho ʻia ka hoʻāʻo ʻana i ka genetic preimplantation. E kamaʻilio me kāu kauka e pili ana i kēia e aʻo hou aku.

Pehea e ʻike ai inā pilikia kaʻu keiki i ka loaʻa ʻana o ka HMO?

Inā loaʻa iā ʻoe, kāu kāne/wahine, a i ʻole kekahi lālā o ka ʻohana pili ka HMO, he mea nui loa ia e hoʻomaopopo i kāu kauka e pili ana i ia mea, no ka mea, hiki i ka pēpē ke pilikia.

Inā ʻaʻohe moʻolelo ʻohana, haʻahaʻa loa ka pilikia o ka loaʻa ʻana o ka HMO i kahi keiki. Eia nō naʻe, e like me kaʻu i ʻōlelo ai ma mua, hiki ke hana ʻia e kahi mutation hou, no laila ʻaʻole hiki ʻole loa.

He aha kaʻu e manaʻo ai inā loaʻa i kaʻu keiki kahi HMO?

Inā loaʻa i kāu keiki ka HMO, hiki ke ʻokoʻa ke ʻano mai kēlā keiki a kēia keiki. Hiki i kekahi mau keiki ke loaʻa i kekahi mau puʻupuʻu osteochondroma, a i ʻole hiki iā lākou ke loaʻa i nā puʻupuʻu he nui.

ʻO ka nūhou maikaʻi , i ka hapanui o nā hihia, ma hope o ka pani ʻana o nā papa ulu o ke keiki, ʻo ia hoʻi, ua pau ka piʻi ʻana o ke kiʻekiʻe o ke keiki a me ka lōʻihi o ka iwi, ʻaʻole e ulu hou kēia mau puʻupuʻu.

Akā no kekahi poʻe, ʻoiai ma hope o ka pani ʻana o nā papa ulu, hiki iā lākou ke hana hou. He mea kākaʻikahi iki ia.

Hiki i ka HMO ke hana i nā hōʻailona ʻē aʻe. Hiki i kekahi mau keiki a me nā pākeke ke ʻike i ka luhi , ka ʻeha, a me ka paʻakikī i ka hoʻoneʻe ʻana i ko lākou kino a i ʻole ka hana ʻana i nā hana.

ʻAʻole pono ka lāʻau lapaʻau i nā kānaka a pau me HMO. Akā, pono paha kekahi i ke ʻoki kino a i ʻole ka hoʻōla kino. Hiki i nā kauka ke ʻōlelo aku i nā lāʻau lapaʻau a i ʻole nā ​​lāʻau lapaʻau ʻē aʻe e kōkua i ka kaohi ʻana i ka ʻeha.

Pehea ka lōʻihi o kēia kūlana?

He maʻi ola ko HMO no ke ola holoʻokoʻa. ʻO ia hoʻi, ʻaʻole hiki ke ho'ōla piha ʻia. Eia nō naʻe, ʻo ka hapa nui o ka poʻe me kēia mau osteochondromas benign he ola maʻamau ko lākou.Hiki ke ola. ʻO ka mea nui loa, ʻo ia ke kāohi i nā hōʻailona, ​​​​e loaʻa i ka lāʻau lapaʻau e pono ai, a mālama i kahi ola maikaʻi. E kamaʻilio mau me kāu kauka e pili ana i nā koho lapaʻau e kōkua i kāu keiki e noho olakino a hauʻoli.

Hiki i nā ʻōpū osteochondroma ke lilo i maʻi kanesa? ʻO kēia ka mea a ka poʻe he nui e makaʻu nei.

He nīnau koʻikoʻi kēia. ʻAe, kākaʻikahi loa , ʻo ia hoʻi, kākaʻikahi loa , hiki i nā puʻupuʻu osteochondroma i loko o ka poʻe me HMO ke lilo i ʻino. Ma waena o 2% a me 5% o ka poʻe me HMO (ʻo ia hoʻi, ma waena o 2 a me 5 mai 100) e loaʻa i kēia ʻano maʻi kanesa. Ke hana ʻia kēia, lilo kēia mau puʻupuʻu maikaʻi i nā maʻi kanesa iwi i kapa ʻia ʻo 'chondrosarcoma' a i ʻole 'osteosarcoma'.

Hiki i kāu kauka ke manaʻo he maʻi kanesa ka osteochondroma inā:

• Inā loaʻa i kāu keiki nā ʻiole hou ma hope o ka wā ʻōpio , a inā paha e ulu koke ana kahi ʻiole e kū nei.
• Inā lilo koke kahi osteochondroma ʻeha ʻole ma mua i ʻeha , a inā paha e koʻikoʻi loa ka ʻeha e kū nei.
• Inā ʻoi aku ka mānoanoa o ka pāpale cartilage ma luna o kahi puʻupuʻu ma mua o 2 kenimika (ʻike ʻia kēia me kahi scan MRI).

Hiki ke wehe ʻia nā ʻōpū kanesa he nui ma ke ʻoki ʻana. Ma muli o ke kahua o ke kanesa, inā ua pālahalaha (metastasized), ʻaʻole pono paha kāu keiki i ka lāʻau lapaʻau hou (e like me ka chemotherapy a i ʻole radiotherapy). ʻO ia ke kumu he mea nui ka loaʻa ʻana o nā nānā mau.

Pehea e mālama ai i kahi keiki me HMO? He aha kā mākou e hana ai ma ke ʻano he mau mākua?

Inā loaʻa i kāu keiki ka HMO, he mea nui loa ia e hoʻolohe i nā hōʻailona o kāu keiki .

• Inā loaʻa i kāu keiki kekahi mau hōʻailona hou , ʻoiai ka loli koke o ka nui o ka puʻupuʻu, ka nui o ka ʻeha, a i ʻole ka numbness, e hoʻomaopopo koke i kāu kauka.
• E hahai pono i nā ʻōlelo a ke kauka (pehea e lawe ai i kāu lāʻau lapaʻau, pehea e hoʻoikaika kino ai, a me ka wā e hele mai ai no nā hoʻokolohua).
• Inā ʻeha kāu keiki, mai ʻae iā ia e hoʻomanawanui. E kamaʻilio me kāu kauka a e ʻimi i nā ala e mālama ai i ka ʻeha.
• E noʻonoʻo pū i ke olakino noʻonoʻo o kāu keiki. ʻO ka noho ʻana me kahi kūlana e like me kēia hiki ke lilo i mea paʻakikī i kekahi manawa no kahi keiki. E kamaʻilio me kāu keiki, e kākoʻo i kāu keiki.

Āhea wau e ʻimi ai i ke kōkua lapaʻau inā loaʻa ka HMO i kaʻu keiki? He aha nā pilikia?

Inā ua ʻike ʻia kāu keiki me HMO, e ʻimi koke i ke kōkua lapaʻau i nā hihia aʻe:

• Inā loaʻa i ke keiki nā puʻupuʻu hou .
• Inā manaʻo ʻoe e ulu koke ana kahi puʻupuʻu.
• Inā piʻi koke ka ʻeha a inā paha he ʻeha hou a koʻikoʻi (ʻoi aku hoʻi ma hope o ka wā ʻōpio).
• Ma kahi he puʻupuʻuInā ʻulaʻula ka ʻili, pehu, a mehana (he hōʻailona paha kēia o ka maʻi).
• Inā loaʻa iā ʻoe ka nāwaliwali a ka ʻeha paha ma ka lima a i ʻole ka wāwae.

Mai hoʻowahāwahā i kēia mau hōʻailona. ʻO ka ʻike mua ʻana i ke kauka hiki ke pale i nā pilikia nui mai ka ulu ʻana.

Hiki i nā keiki me HMO ke hoʻomohala i ka autism?

Nīnau kekahi mau mākua e pili ana i kēia. Ua hōʻike nā loea lapaʻau i kekahi mau hihia o nā keiki me HMO a me kahi maʻi i kapa ʻia ʻo 'autism spectrum disorder'. Eia naʻe, ʻaʻole lākou i ʻike maopopo inā he pilina pololei ma waena o nā maʻi ʻelua. Ke aʻo nei nā kānaka noiʻi inā paha nā hoʻololi genetic (ʻo nā genes 'EXT1', 'EXT2') e hoʻoulu ai i ka HMO e kōkua pū i ka ulu ʻana o ka autism. I kēia manawa, ʻaʻohe hopena paʻa i hiki i kēia.

ʻO ka mea hope loa, nā mea nui e pono ai ʻoe e hoʻomanaʻo

ʻO HMO, ʻo ia hoʻi ke kū nei no 'Hereditary Multiple Osteochondromas' (i kekahi manawa i kapa ʻia ʻo 'Multiple Hereditary Exostoses'), he ʻano maʻi ia e kū mai ai nā ʻōpū ʻino (osteochondromas) ma nā iwi a ma nā papa ulu o nā keiki a me nā ʻōpio.

ʻOiai he maʻi ola ka HMO, hiki iā ia ke hōʻeha a me nā loli iwi. Eia nō naʻe, hiki i nā lāʻau lapaʻau e like me ke ʻoki kino, ka hoʻōla kino, a me ka hoʻokele ʻeha ke hōʻoluʻolu nui i nā hōʻailona, ​​hoʻoponopono i nā kīnā o ka iwi, a kōkua iā ʻoe e ola i kahi ola maikaʻi.

ʻO ka mea nui loa, ʻaʻole e hopohopo a hopohopo paha inā loaʻa i kāu keiki kēia mau hōʻailona, ​​akā e ʻike koke i ke kauka kūpono. E kamaʻilio ākea me ke kauka a hoʻoholo i nā hoʻokolohua e pono ai kāu keiki a me ke ʻano o ka lāʻau lapaʻau maikaʻi loa. ʻO kāu kākoʻo a me kou hoʻomaopopo ʻana he ikaika nui ia no kāu keiki e ola kūleʻa me kēia maʻi.

ʻO nā Osteochondromas hoʻoilina he nui, nā Exostoses hoʻoilina he nui, Osteochondromas, nā puʻupuʻu iwi, nā maʻi genetic, nā maʻi o nā keiki, ʻeha iwi