Ke ʻeha mau nei kou ʻāʻī a me ke kua? Hiki paha iā ia ke Klippel-Feil Syndrome (KFS)!

Ke paʻakikī nei paha iā ʻoe ke hoʻohuli i kou ʻāʻī i kekahi manawa? A i ʻole he pōkole iki kou ʻāʻī? Ua ʻike paha ʻoe i kahi loli like ma ka ʻāʻī o kāu keiki. ʻOiai he nui nā kumu no kēia, i kēia lā e kamaʻilio mākou e pili ana i kahi maʻi kakaʻikahi akā koʻikoʻi i kapa ʻia ʻo Klippel-Feil Syndrome (KFS). Mai hopohopo, e mālama mākou i ka maʻalahi.

No laila, he aha ka Klippel-Feil Syndrome (KFS)?

I ka ʻōlelo maʻalahi, ʻo Klippel-Feil Syndrome (KFS) kahi kūlana i hui pū ʻia ai ʻelua a ʻoi aku paha nā vertebrae i loko o ko mākou ʻāʻī, a i ʻole nā ​​​​hui spinal, e hana ana i hoʻokahi iwi. He kūlana hānau kēia. ʻO ka maʻamau, aia kahi hakahaka liʻiliʻi ma waena o nā vertebrae i loko o ko mākou ʻāʻī (i kapa ʻia hoʻi ʻo `(cervical vertebrae)`), i piha i nā ʻāpana e like me ka jelly i kapa ʻia ʻo `(intervertebral discs)`. ʻO kēia nā mea e hiki ai iā mākou ke hoʻohuli maʻalahi i ko mākou ʻāʻī i mua a i mua. Eia nō naʻe, i loko o kekahi me KFS, ua hui pū ʻia kēia mau vertebrae, hiki ke kaupalena i ka neʻe ʻana o ka ʻāʻī.

He 33 mau iwi kuamoʻo i loko o ko kākou iwi kuamoʻo. Aia nā iwi kuamoʻo ʻehiku ma luna o ka ʻāʻī (C1 a i C7). Ma KFS, ʻo nā iwi kuamoʻo ʻelua i hoʻopilikia pinepine ʻia ʻo C2 a me C3. Eia nō naʻe, i kekahi manawa hiki i ke kūlana ke hoʻopilikia i nā iwi kuamoʻo ʻē aʻe ma ka iwi kuamoʻo ma lalo o ka ʻāʻī.

Ua kapa ʻia ke ʻano o ka maʻi ʻo Klippel-Feil Syndrome ma muli o nā kauka ʻelua i ʻike mua iā ia.

ʻEkolu mau hiʻohiʻona nui o KFS (hiki i kēia mau mea ke hoʻokahi, ʻelua, a i ʻole nā ​​mea āpau, a i ʻole ʻaʻohe loa):

• Ke paʻakikī i ka hoʻohuli ʻana i ka ʻāʻī ma muli o ka pipili ʻana o nā iwi kuamoʻo o ka ʻāʻī.
• ʻAno ʻāʻī pōkole.
• ʻO ka laina lauoho, ma ke kua o ke poʻo, ua hoʻonoho ʻia ma lalo o ka maʻamau.

ʻAʻole i kaupalena ʻia kēia maʻi i ka ʻāʻī. I kekahi manawa hiki iā ia ke hoʻopilikia i ka puʻuwai, nā māmā, nā puʻupaʻa, ka waha, nā maka, nā pepeiao, nā ʻiʻo, nā aʻalolo, ke kaulahao kuamoʻo, a me nā iwi ʻē aʻe.

Pehea ka maʻamau o Klippel-Feil Syndrome (KFS)?

He maʻi laha ʻole ʻo KFS. Hoʻopilikia ia ma kahi o hoʻokahi i loko o 40,000 a 42,000 mau pēpē hānau hou ma ka honua holoʻokoʻa. Ua ʻōlelo ʻia hoʻi he ʻoi aku ka maʻamau o ia i nā kaikamahine.

Pehea e ʻike ai inā loaʻa i kaʻu keiki ʻo Klippel-Feil Syndrome (KFS)?

I kekahi manawa, ma muli o ke koʻikoʻi o ke kūlana, hiki ke ʻike ʻia i ka wā o ka ultrasound scan i ka trimester mua o ka hāpai ʻana. A i ʻole, inā ʻaʻohe hōʻailona maopopo i ka wā hānau, i ka wā kamaliʻi, a i ʻole ka wā kamaliʻi mua, hiki ke ʻike ʻia i ka wā makua a ma hope paha. Eia nō naʻe, no ka laulā o nā hōʻailona a me nā pilikia ʻē aʻe e hiki ke hele pū me kēia kūlana, he mea kākaʻikahi ka ʻike ʻana a hiki i ka wā ma hope.

He aha nā hōʻailona o Klippel-Feil Syndrome (KFS)?

ʻO ka mea kupanaha, ʻo kekahi poʻe me KFS ʻaʻohe o lākou hōʻailona iki, a i ʻole he mau hōʻailona liʻiliʻi wale nō. Eia nō naʻe, nui ka poʻe e loaʻa nā hōʻailona.ʻOiai hiki i kēia ke hoʻopilikia iki i kekahi poʻe, hiki iā lākou ke hoʻopilikia koʻikoʻi i kekahi. ʻO ke ʻano kēia, hiki ke ʻokoʻa nā hōʻailona mai kēlā kanaka a kēia kanaka.

Eia nā hōʻailona maʻamau i ʻike pinepine ʻia:

• Paʻakikī i ka hoʻohuli ʻana i ka ʻāʻī: ʻO kēia ka hōʻailona kino maʻamau. Hana ʻia ia ma muli o ka paʻa ʻana o kekahi a ʻoi aku paha o nā iwi kuamoʻo o ka ʻāʻī.
• ʻO ka laina lauoho, aia ma ke kua o ke poʻo, ma lalo.
• ʻAno ʻāʻī pōkole.
• Nā ʻokoʻa o ka nui a me ke ʻano o nā ʻaoʻao o ka maka.
• Ka paʻa ʻole o nā iwi kuamoʻo ma ka ʻāʻī luna, kahi e pili ana i ka iwi poʻo. Hiki i kēia ke lilo i mea weliweli loa, ʻoiai inā ua ʻeha ʻoe i kahi ulia, kahi ulia kaʻa, a i ʻole i nā haʻuki e like me ka rugby a i ʻole ka pôpeku.
• Scoliosis: Hiki ke ʻike ʻia kēia ma waena o 30 a me 50 pakeneka o nā hihia.
• ʻEha poʻo.
• Kuli: Hiki i kēia ke hoʻopilikia i kahi 30 pakeneka o ka poʻe.
• Ka paʻakikī o ka hoʻohuli ʻana i ke kua o luna.
• ʻEha aʻalolo e pālahalaha ana i nā lima a i ʻole nā ​​​​wāwae.
• ʻEha nā ʻiʻo ma ka ʻāʻī a me/a i ʻole ke kua.
• Ka hōʻino ʻana i nā aʻalolo ma ka ʻāʻī a i ʻole ke kua.
• ʻO ka stenosis spinal: Hiki i kēia ke hōʻino i ke kaula spinal.
• Maʻi puʻupaʻa: Hiki i kēia ke hoʻopilikia i kahi 30 pakeneka o nā kānaka.

Eia kekahi, hiki ke loaʻa nā pilikia ʻē aʻe:

• Ka hemahema o ka lohe a kuli paha.
• He māhele o ka lehelehe a i ʻole ke ʻano ʻē o ka lehelehe.
• Nā ʻano ʻē o ka ʻōnaehana hānau keiki, ka ʻōnaehana mimi, ka puʻuwai, nā māmā, nā kīnā o nā iwi ʻaoʻao, nā kīnā o nā lālā.
• Ka hoʻonāwaliwali ʻana o nā ligaments ma ke poʻo o ka ʻāʻī e hoʻopili ana i ke poʻo. Hiki i kēia ke hoʻopili i ke kaula spinal a hōʻino i nā aʻalolo ke neʻe ka ʻāʻī.

He aha ke kumu o ka Klippel-Feil Syndrome (KFS)?

ʻAʻole maopopo loa i nā kānaka noiʻi ke kumu kikoʻī o KFS. ʻO ka hapa nui, ua manaʻo ʻia he sporadic. ʻO ia hoʻi, hiki ke hana me ka ʻole o ka mōʻaukala ʻohana o ke ʻano a i ʻole me kahi kumu genetic maopopo.

Eia nō naʻe, i kekahi mau hihia, hiki ke hana ʻia kēia kūlana e nā loli (mutations) i hoʻokahi a ʻoi aku paha mau genes e pili ana i ka ulu ʻana o ka iwi a me ka iwi kuamoʻo.

Hiki i kekahi manawa ke hana pū ʻia ʻo KFS me nā maʻi ʻē aʻe, a i ʻole he hopena ʻaoʻao o kahi maʻi hānau ʻē aʻe. Hana ʻia ʻo KFS ma ke ʻano he hopena ʻaoʻao o kahi maʻi ʻē aʻe, ma muli o nā loli (`(mutations)`) i loko o nā genes e pili ana i kēlā mau maʻi.

ʻO kekahi o nā kūlana olakino e pili ana me KFS:

• ʻO ka inu ʻana i ka waiʻona i ka wā hāpai hiki ke hana i nā pilikia o ka ʻōnaehana nerve waena a me nā pilikia ʻē aʻe (`(fetal alcohol syndrome)`).
• He kūlana me ka ulu ʻana maʻamau ʻole o nā maka, nā pepeiao, a me ke kuamoʻo (`(Goldenhar syndrome)`).
• Ka ulu ʻana maʻamau ʻole o ka iwi poʻohiwi (`(Sprengel deformity)`).
• Nā ʻano ʻē o ka neʻe ʻana o ka maka (`(Duane syndrome)`).
• ʻAʻohe o kekahi a ʻelua paha mau puʻupaʻa (renal agenesis).
• He kūlana me ka ulu ʻana o nā maka, nā pepeiao, a me nā iwi kuamoʻo ma ka ʻāʻī (`(Wildervanck syndrome)`).
• Nā mea ʻino o ka ʻōnaehana nerve waena (no ka laʻana, nā kūlana e like me Chiari malformation, spina bifida, a me syringomyelia).

He hoʻoilina anei ka Klippel-Feil Syndrome (KFS)?

I ka hapanui o nā hihia, ʻaʻole hoʻoilina ʻo KFS. Eia nō naʻe, e like me ka mea i ʻōlelo ʻia ma mua, i kekahi mau hihia, hiki ke hana ʻia ke kūlana e nā loli (`(mutations)`) i loko o hoʻokahi a ʻoi aku paha o nā genes ʻekolu i ʻike ʻia. Inā loaʻa kēlā kumu genetic, hiki ke hoʻoilina ʻia ʻo KFS.

Pehea e ʻike ʻia ai ʻo Klippel-Feil Syndrome (KFS)?

E ʻike ke kauka iā KFS ma muli o kāu mau hōʻailona, ​​​​​​ka hoʻokolokolo lapaʻau, a me nā hoʻokolohua kiʻi like ʻole. ʻIke pinepine ʻia ke ʻano i ka wā kamaliʻi. I kekahi manawa, hiki ke ʻike ʻia i ka wā mua o ka ʻōpū.

E nīnau kāu kauka e pili ana i kou mōʻaukala olakino a me kou mōʻaukala ʻohana. A laila e hana lākou i kahi hoʻokolokolo kino. I loko o kēia hoʻokolokolo:

• Kou maka, ʻāʻī (e ʻike inā he pōkole), ke koena o kou iwi kuamoʻo, a me kou laina lauoho (e ʻike inā he haʻahaʻa ia ma ke kua o kou poʻo).
• Ke nānā nei lākou i nā hōʻailona o ke kaomi ʻana o ke aʻalolo cervical (radiculopathy) a i ʻole ka hōʻino ʻana i ke kaula spinal (myelopathy).
• Hoʻāʻo i nā reflexes i kāohi ʻia e ke kaula kuamoʻo a me nā aʻalolo ʻē aʻe.
• E nānā lākou i kou hele ʻana.
• Hoʻolohe lākou i ka umauma a me ka ʻōpū a hoʻopā iā lākou me ko lākou mau lima.

He aha nā hoʻokolohua e hana ʻia e ʻike ai i kēia maʻi?

ʻAʻohe hoʻokolohua lab kikoʻī e ʻike ai i ka KFS. Eia nō naʻe, inā he nui kou mau hōʻailona, ​​​​hiki i kāu kauka ke kauoha i nā hoʻokolohua koko e kāpae i nā kūlana ʻē aʻe. Hiki iā lākou ke nānā i nā mea ʻē aʻe i loko o kou puʻuwai, nā puʻupaʻa, ka ʻōnaehana gastrointestinal, a me ka ʻōnaehana urinary. Hiki ke hāʻawi ʻia iā ʻoe kahi hoʻokolohua lohe. Hiki i kāu kauka ke kamaʻilio pū me ʻoe e pili ana i ka hoʻāʻo genetic.

Nā Hoʻāʻo Kiʻi ʻIwi

Pono kāu kauka e lawe i nā kukuna X. Hiki paha iā lākou ke kauoha i kahi scan CT (Computed Tomography scan) a i ʻole kahi scan MRI (Magnetic Resonance Imaging) .

• Nā kukuna X: Hiki ke nānā ʻia ka iwi kuamoʻo holoʻokoʻa e ʻike inā ua hui pū ʻia nā vertebrae, inā he disc herniated, pehea ka paʻa o ka iwi kuamoʻo, a inā he mau mea ʻē aʻe.
• ʻIke CT (`(ʻIke CT)`):Hiki iā ʻoe ke nānā i ke ʻano o ka vertebrae i hoʻohui ʻia a me ke kaula spinal me nā kikoʻī hou aku.
• MRI scan: Kōkua kēia scan e ʻike maopopo i nā ʻiʻo palupalu e like me ke kaula spinal, nā disc ma waena o ka vertebrae, nā aʻa nerve, a me nā ligaments i loko o ka spine, a e ʻike i nā mea ʻē aʻe ma nā ʻāpana ʻē aʻe o ke kino.

Pehea ka mālama ʻia ʻana o Klippel-Feil Syndrome (KFS)?

Aia ka lāʻau lapaʻau i kāu mau hōʻailona. Pono paha ʻoe i ka lāʻau lapaʻau a/a i ʻole ka hoʻōla kino. Pono ʻoe e makaʻala i nā pilikia o kahi ulia a pale i nā hana pilikia. ʻAʻole pono nā kānaka a pau me KFS i ke ʻoki kino.

Nā lāʻau lapaʻau maʻamau a me nā lāʻau lapaʻau

He nui ka poʻe ʻaʻole pono ke ʻoki kino e hana maikaʻi me nā lāʻau lapaʻau maʻalahi e like me nā kola cervical, nā braces, a me ke traction. Hiki i kāu kauka ke kuhikuhi i ka lāʻau lapaʻau e hōʻemi i ka ʻeha a me ka pehu.

ʻOki kino (`(ʻOki kino)`)

ʻOi aku ka nui o kou makemake i ke ʻoki kino inā:

• Inā he pilikia me kou ʻōnaehana nerve, ʻo ia hoʻi, kou lolo, ke kaula kuamoʻo, a me nā aʻalolo.
• Inā he kīnā a paʻa ʻole paha kou iwi kuamoʻo.
• Inā he nāwaliwali nā ʻiʻo hou kou, he hōʻailona paha kēia o kahi mea koʻikoʻi e pili ana i kou iwi kuamoʻo a i ʻole ke kaula kuamoʻo.
• Inā he mau ʻano ʻē i loko o nā kino ʻē aʻe.

Inā he hoʻokahi a ʻoi aku paha kou mau iwi kuamoʻo ma kou ʻāʻī ma lalo o ka iwi kuamoʻo C3 (ʻo ia hoʻi, ma lalo o ka iwi kuamoʻo C1 a me C2 kokoke loa i ke poʻo), ua lawa paha ka nānā mau ʻana a me ka nānā ʻana i ke kūlana. Inā pāʻani ʻoe a i ʻole kāu keiki i nā haʻuki pili e like me ka hockey a i ʻole ka rugby, e ʻōlelo paha kāu kauka e hoʻomau ʻoe i ka pāʻani ʻana i kēlā mau haʻuki ma hope o kou aʻo ʻana pehea e pale ai i kou ʻāʻī.

Eia nō naʻe, inā ua hoʻohui ʻia kou vertebrae ma luna o ka C3 vertebra i loko o kou ʻāʻī (ʻo ia hoʻi kokoke i ke poʻo), pono ʻoe e pale i nā haʻuki hopena kiʻekiʻe, no ka mea, ʻoi aku kou pilikia o ka loaʻa ʻana o kahi ʻeha weliweli o ka iwi kuamoʻo.

E nānā mau kāu kauka i kou puʻuwai, nā māmā, ka ʻōnaehana hānau, nā puʻupaʻa, a me nā ʻōpū ʻē aʻe i hiki iā lākou ke ʻike koke i nā pilikia a hoʻokele a mālama paha i nā loli, a i ʻole e paipai i kekahi ʻoki kino e pono ai.

Hiki i ka Klippel-Feil Syndrome (KFS) ke hōʻeha i ka wā?

ʻAe, hiki i ka Klippel-Feil Syndrome (KFS) ke lilo i mea ʻino aʻe i ka hala ʻana o ka manawa. Inā he ʻano ʻē kou i kou iwi kuamoʻo, ʻoi aku ka nui o kou loaʻa ʻana o nā pilikia i kou wā ʻelemakule. No ka laʻana, hiki i nā pilikia disc degenerative ke hoʻoulu i ke kaomi ʻana o ke aʻalolo, ka ʻeha o ke kua a me ke kuamoʻo, a i ʻole ka nāwaliwali o nā lālā.

ʻOi aku ka nui o kou ʻeha ʻana mai ka hāʻule ʻana a me nā hopena ʻē aʻe i kou kino. I ka hala ʻana o ka manawa, hiki ke ulu aʻe nā pilikia kūloko ʻē aʻe. ʻO ia ke kumu he mea nui e hālāwai me kāu hui lapaʻau i kēlā me kēia manawa. E nānā lākou iā ʻoe, e hana i nā hoʻokolohua e pono ai, a e hoʻoholo a hoʻololi paha i kāu lāʻau lapaʻau.

E pili ana anei ka Klippel-Feil Syndrome (KFS) i ke ola?

He mea nui ka ʻike mua ʻana i ka Klippel-Feil Syndrome (KFS). ʻO ia ka manawa e hiki ai ke mālama ʻia nā pilikia olakino me ke ʻoki ʻana, nā ʻano hana ʻoki ʻole, a i ʻole ka nānā pono ʻana i ka hala ʻana o ka manawa. Inā ʻoe e mālama i nā mea ʻē aʻe a hahai i nā ʻōlelo aʻoaʻo a kāu kauka e pale i kou iwi kuamoʻo, hiki iā ʻoe ke ola i kahi ola maʻamau.

He aha ke ʻano o ka wā e hiki mai ana e hiki i kekahi me Klippel-Feil Syndrome (KFS) ke manaʻo?

E hilinaʻi ana kou hopena i ke ʻano o ka maʻi āu e loaʻa ai (nā ʻāpana o kou kino i hoʻopilikia ʻia) a me nā kūlana ʻē aʻe āu e loaʻa ai. He ʻokoʻa nā kānaka a pau. E kamaʻilio kāu hui lapaʻau me ʻoe e pili ana i kou kūlana i nā kipa maʻamau. ʻAʻohe paha he mau hōʻailona o kekahi poʻe, aʻo kekahi poʻe he mau hōʻailona koʻikoʻi paha e hōʻemi ana i ko lākou ola maikaʻi.

E kamaʻilio kāu mau kauka me ʻoe e pili ana i ka pono o kāu hana ʻana i kekahi mea e pale ai i kou iwi kuamoʻo, inā paha hiki iā ʻoe ke pāʻani i nā haʻuki koʻikoʻi, a i ʻole inā pono ʻoe e hana i nā hoʻololi ʻē aʻe o ke ʻano o ka nohona. E kūkākūkā pū lākou i ka pono o ke ʻoki kino.

ʻO wai nā loea olakino e hiki ke komo i loko o kaʻu mālama ʻana?

Aia kekahi mau ʻano loea olakino like ʻole e komo pū ana i kāu mālama ʻana. ʻO lākou kekahi:

• ʻO kāu mea hoʻolako maʻamau.
• He loea lapaʻau pediatric a i ʻole ka lāʻau lapaʻau kūloko.
• He loea lolo.
• Kauka ʻokiʻoki lolo.
• He kauka lapaʻau iwi.
• He kauka ʻoki waha a me ke kauka maxillofacial.
• He kauka puʻuwai.
• He kauka lapaʻau ka gastroenterologist i loea i ka ʻōnaehana hoʻoheheʻe.
• He loea puʻupaʻa (Nephrologist).
• He loea pepeiao, ihu, a me ka ʻāʻī (Otolaryngologist).
• He loea hoʻolohe pepeiao.
• Loea hoʻokele ʻeha.
• Luna hoʻōla kino.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

ʻO ka Klippel-Feil Syndrome (KFS) kahi maʻi iwi kuamoʻo laha ʻole kahi e hui pū ai ʻelua a ʻoi aku paha mau vertebrae ma ka ʻāʻī.Hiki i kēia kūlana ke alakaʻi i nā pilikia ʻē aʻe he nui i loko o ka iwi kuamoʻo, a hiki ke hoʻopilikia i nā ʻāpana ʻē aʻe o ke kino.

Eia naʻe, ʻaʻole like nā kānaka a pau. Loaʻa paha iā ʻoe kahi ʻano KFS iki, me ka ʻole o nā hōʻailona nui. A i ʻole, loaʻa paha iā ʻoe nā pilikia olakino koʻikoʻi e pono ai ka mālama lōʻihi. Mai hopohopo, e hele pū ana kāu hui o nā loea me ʻoe i kēlā me kēia ʻanuʻu o ke ala.

ʻO ka mea nui loa, ʻo ia ka ʻike mua ʻana i ka maʻi, loaʻa ka lāʻau kūpono, a hahai i nā ʻōlelo a kāu kauka. A laila, i ka hapanui o nā hihia, hiki iā ʻoe ke ola i kahi ola maʻamau a hauʻoli. Inā he mau nīnau a kānalua paha kāu, mai hilahila e nīnau i kāu kauka. Aia lākou ma laila e kōkua iā ʻoe.

ʻO ka maʻi Klippel-Feil, KFS, ʻeha ʻāʻī, nā maʻi iwi kuamoʻo, nā hoʻopili iwi kuamoʻo, ka maʻi hānau ʻana, ka ʻoʻoleʻa o ka ʻāʻī, ka hui ʻana o ka iwi kuamoʻo