Contents
ʻO ka maʻi o ke kanaka Pōhaku
ʻO ka maʻi kanaka pōhaku, a i ʻole progressive ossifying fibrodysplasia (FOP) he maʻi kakaʻikaʻi loa a hoʻopau ʻia. ʻO nā ʻiʻo a me nā ʻiʻo o ka poʻe i hoʻopilikia ʻia e lohi mālie: paʻa mālie ke kino i loko o ka iwi iwi. ʻAʻohe lāʻau lapaʻau i kēia manawa, akā ʻo ka loaʻa ʻana o ke ʻano hōʻino ua paʻa i ke ala no ka noiʻi hoʻohiki.
He aha ka maʻi o ke kanaka pōhaku?
Definition
ʻO ka progressive ossifying fibrodysplasia (PFO), ʻoi aku ka maikaʻi ma lalo o ka inoa o ka maʻi kanaka pōhaku, he maʻi hoʻoilina nui loa. Hōʻike ʻia ia e nā malformations congenital o nā manamana wāwae nui a me ka ossification holomua o kekahi mau ʻiʻo palupalu extraskeletal.
Ua ʻōlelo ʻia kēia ossification he heterotopic: hoʻokumu ʻia ka iwi maʻamau ma kahi ʻole, i loko o nā ʻiʻo striated, tendons, ligaments a me nā ʻiʻo pili i kapa ʻia ʻo fascias a me aponeuroses. Mālama ʻia nā ʻiʻo maka, diaphragm, alelo, pharynx, larynx a me nā ʻiʻo maʻemaʻe.
ʻO ka maʻi o ke kanaka pōhaku e holomua ana i ka lapalapa, e hoʻemi mālie i ka mobility a me ke kūʻokoʻa, e alakaʻi ana i ka ankylosis o nā hono a me nā deformities.
Nā kumu
Ua ʻike ʻia ka gene i nīnau ʻia, aia ma ka chromosome ʻelua, i ʻApelila 2006. Ua kapa ʻia ʻo ACVR1 / ALK2, hoʻokele ia i ka hana ʻana o kahi mea hoʻokipa protein kahi e hoʻopili ai nā mea ulu e hoʻoulu ai i ka hoʻokumu ʻana o ka iwi. ʻO kahi hoʻololi hoʻokahi - hoʻokahi "leka" "hewa" i loko o ke code genetic - ua lawa ia e hoʻomaka ai i ka maʻi.
I ka hapanui o nā hihia, ʻike pinepine ʻia kēia hoʻololi ʻana a ʻaʻole i hāʻawi ʻia i nā keiki. Eia naʻe, ʻike ʻia kahi helu liʻiliʻi o nā hihia hoʻoilina.
PalekanaEND_LINK
Hoʻokumu ʻia ka ʻike ma ka hoʻokolokolo kino, hoʻohui ʻia e nā x-ray maʻamau e hōʻike ana i nā mea ʻino o ka iwi.
He mea pono ke kūkā kamaʻilio ʻana i ka lāʻau lapaʻau no ka pōmaikaʻi mai ke aʻo ʻana i ka molekala o ka genome. ʻO kēia ka mea e hiki ai ke ʻike i ka mutation i nīnau ʻia i mea e pōmaikaʻi ai i ka ʻōlelo aʻoaʻo genetic kūpono. ʻOiaʻiʻo, inā pili mau nā ʻano maʻamau o kēia pathology i ka mutation hoʻokahi, hiki mau nā ʻano atypical e pili ana me nā hoʻololi ʻē aʻe.
ʻAʻole i loaʻa ka nānā ʻana o ka prenatal.
Pili ka poʻe
Hoʻopilikia ka FOP ma lalo o hoʻokahi i loko o 2 miliona mau kānaka ma ka honua holoʻokoʻa (2500 mau hihia i ʻike ʻia e like me ka Association FOP France), me ka ʻole o ka wahine a i ʻole ka lāhui. Ma Palani, 89 ka poʻe i hopohopo i kēia lā.
Nā hōʻailona a me nā hōʻailona o ka maʻi kanaka pōhaku
ʻO nā hōʻailona o ka maʻi ke holomua nei.
ʻO nā hemahema o nā manamana wāwae nui
I ka hānau ʻana, he mea maʻamau nā keiki koe wale nō ka hele ʻana o nā malformations congenital o nā manamana wāwae nui. ʻO ka pinepine, he pōkole kēia a haʻalele i loko ("false hallux valgus"), ma muli o kahi malformation e pili ana i ka 1st metatarsal, ka iwi lōʻihi o ka wāwae i ʻōlelo ʻia me ka phalanx mua.
Hiki ke hoʻopili ʻia kēia malformation me ka mono phalangism; i kekahi manawa, ʻo ia wale nō ka hōʻailona o ka maʻi.
ʻŌʻalo
ʻO nā ossifications o nā ʻiʻo a me nā ʻiʻo maʻamau e loaʻa i nā makahiki he iwakālua mua o ke ola, ma hope o ka piʻi ʻana mai ke kino o luna i lalo a mai ke kua a i ka alo i mua. Aia ma mua o ka ʻike ʻia ʻana o ka pehu paʻakikī, ʻeha a me ka ʻeha. Hiki ke hoʻoulu ʻia kēia mau ʻāʻā ʻāʻī e ka trauma (ʻeha a i ʻole ka haʻalulu pololei), ka hoʻokele intramuscular, ka maʻi maʻi viral, ka hoʻolōʻihi ʻana i ka ʻiʻo, a i ʻole ka luhi a i ʻole ke kaumaha.
Nā anomalie ʻē aʻe
ʻO nā mea ʻino o ka iwi e like me ka hana ʻana o ka iwi ma nā kuli a i ʻole ka hui ʻana o ka vertebrae cervical i kekahi manawa i nā makahiki mua.
Hiki ke ʻike ʻia ka nalo ʻana o ka lohe mai ka wā ʻōpio.
Evolution
ʻO ka hoʻokumu ʻana o kahi "iwi ʻelua" e hoʻemi mālie i ka neʻe. Eia kekahi, hiki ke ʻike ʻia nā pilikia hanu ma muli o ka holomua o ka ossification o nā ʻiʻo intercostal a me hope a me nā deformities. Hoʻonui ka nalo o ka neʻe ʻana i ka pilikia o nā hanana thromboembolic (phlebitis a i ʻole pulmonary embolism).
ʻO ka awelika o ke ola ma kahi o 40 mau makahiki.
Nā lāʻau lapaʻau no ka maʻi kanaka pōhaku
I kēia manawa, ʻaʻohe lāʻau lapaʻau i loaʻa. ʻO ka loaʻa ʻana o ka gene i nīnau ʻia, ua ʻae i ka holomua nui i ka noiʻi. Ke ʻimi nei ka poʻe noiʻi i kahi ala therapeutic hoʻohiki, e hiki ai ke hoʻopau i ka mutation o ke ʻano me ka hoʻohana ʻana i ka ʻenehana RNA interfering.
Hōʻailona hōʻailona
I loko o nā hola 24 mua o kahi maʻi ʻino, hiki ke hoʻomaka ʻia ka lāʻau corticosteroid kiʻekiʻe. Hāʻawi ʻia no nā lā 4, hiki iā ia ke hāʻawi i kahi hōʻoluʻolu i nā poʻe maʻi ma o ka hoʻohaʻahaʻa ʻana i ka hopena inflammatory a me ka edematous i ʻike ʻia i ka wā mua o ka maʻi.
Hiki i nā mea hoʻomaha ʻeha a me nā mea hoʻomaha ʻiʻo ke kōkua i ka ʻeha nui.
Kākoʻo maʻi
Pono e hoʻokō ʻia nā mea kōkua kanaka a me nā ʻenehana a pau e ʻae i ka poʻe i loaʻa i ka maʻi o ke kanaka pōhaku e mālama i ka nui o ka autonomy a e hoʻohui i ka hoʻonaʻauao a laila ʻoihana.
Kāohi i ka maʻi o ke kanaka Pōhaku
ʻO ka mea pōʻino, ʻaʻole hiki ke pale i ka hoʻomaka ʻana o FOP. Akā hiki ke hana ʻia nā hana e hoʻolōʻihi i kona ulu ʻana.
ʻO ka pale ʻana i ka hoʻihoʻi ʻana
Pono ka hoʻonaʻauao a me ka hoʻoponopono kaiapuni i ka pale ʻana i nā ʻeha a me ka hāʻule. ʻO ke komo ʻana i ka mahiole no nā keiki liʻiliʻi.
ʻO ka poʻe i loaʻa i ka maʻi kanaka pōhaku e pale aku i ka ʻike ʻana i nā maʻi maʻi viral a e makaʻala loa i ko lākou maʻemaʻe niho, no ka mea, hiki i ka mālama niho invasive ke hoʻoulu i ka lapalapa.
ʻAʻole pāpā ʻia nā kaʻina hana lapaʻau invasive (biopsies, kaʻina hana ʻokiʻoki, a me nā mea ʻē aʻe) koe wale nō nā hihia koʻikoʻi. Hoʻokaʻawale pū ʻia nā injections intramuscular (vaccines, etc.).
Nā lāʻau lapaʻau kino
ʻO ka hoʻoneʻe ʻana o ke kino e nā neʻe mālie e kōkua i ka hakakā ʻana i ka nalowale o ka neʻe. ʻOi aku ka maikaʻi o ka hoʻoponopono ʻana i ka ʻauʻau.
He mea pono nō hoʻi nā ʻenehana hoʻomaʻamaʻa hanu i ka pale ʻana i ka pōʻino o ka hanu.
Nā mea ʻē aʻe
- Ka mālama ʻana i ka lohe
- Ka pale ʻana i ka phlebitis (hoʻokiʻekiʻe ʻia nā lālā haʻahaʻa i ka wā e moe ai i lalo, nā kāʻei hoʻoemi, ka aspirin haʻahaʻa ma hope o ka wā ʻōpio)