He ʻano kūikawā ʻo Achondroplasia o chondrodyplasia, a ʻo kekahi ʻano o ka hoʻopili ʻana a me / a hoʻolōʻihi paha i nā lālā. Kuhi ʻia kēia maʻi e:

- rhizomelia: kahi e hoʻopili ai i ke aʻa o nā lālā, ʻo ka ʻūhā a ʻo nā lima paha;

- hyper-lordosis: hoʻonui i nā curvature dorsal;

- brachydactyly: ka liʻiliʻi liʻiliʻi o nā phalanges o nā manamana lima a me / a i ʻole nā ​​manamana wāwae;

- macrocephaly: ka nui o ka nui o ke anapuni cranial;

- hypoplasia: lohi ka ulu ʻana o kahi aʻa a me / a i ʻole kahi meaola.

ʻO Ethnologically, achondroplasia ʻo ia hoʻi "me ka hana ʻole o ka cartilage". ʻO kēia cartilage kahi mea paʻakikī akā maʻalahi hiki ke hana i kahi o ka hoʻohui o ka iwi. Eia nō naʻe, i kēia pathology, ʻaʻole ia he nīnau no kahi hana maikaʻi ʻole ma ka pae o ka cartilage akā he pilikia i ka ossification (hoʻokumu ʻana i nā iwi). Pili kēia i nā iwi lōʻihi, e like me nā lima a me nā wāwae.

Hōʻike nā kumuhana i hoʻopili ʻia e achondroplasia i kahi kūkulu liʻiliʻi. ʻO ke kiʻekiʻe awelika o ke kāne me ka achondroplasia 1,31 ka m a ʻo ka wahine maʻi he 1,24 m.

ʻO nā ʻano kūlohelohe o ka maʻi ka hopena i ka nui nui o ke kumu, akā kahi liʻiliʻi liʻiliʻi o nā lima a me nā wāwae. ʻO ka mea ʻē aʻe, pili nui ka macrocephaly, i wehewehe ʻia e ka hoʻonui ʻana o ka palena cranial, ma ka lae. ʻO nā manamana lima o kēia mau maʻi he mea liʻiliʻi ia me ka ʻokoʻa ʻike ʻia o ka manamana waena, e hopena ana i ke ʻano o ka lima trident.

Aia kekahi mau pilikia olakino i hiki ke hoʻopili ʻia me achondroplasia. ʻO kēia ka hihia o nā anomalies respiratory me ka hanu ʻana i ʻike ʻia e lohi e nā spurts me nā manawa o ka apnea. Eia hou, pili pinepine ka momona a me nā maʻi pepeiao me ka maʻi. ʻIke ʻia nā pilikia postural (hyper-lordosis).

Hiki i nā pilikia kūpono ke ala aʻe, e like me ka stenosis spinal, a i ʻole ka hoʻopili ʻana o ka canal spinal. ʻO kēia ka hopena i ka compression o ka iwi kuamoʻo. ʻO kēia mau pilikia he mau hōʻailona o ka ʻeha, nāwaliwali i nā wāwae a me nā ʻūlū.

I ka liʻiliʻi o ke alapine, hiki ke ʻike ʻia o ka hydrocephalus (hiki ʻole i ke kino neurological koʻikoʻi). (2)

He maʻi laha ʻole ia, ka laha ʻana (ka helu o nā hihia i kahi heluna kanaka i hāʻawi ʻia i kahi manawa i hāʻawi ʻia) he 1 i 15 mau hānau. (000)

Hōʻike ʻia nā hōʻike pilikino o achondroplasia i ka hānau ʻana e:

- ka liʻiliʻi liʻiliʻi o nā lālā me ka rhizomelia (hōʻino i nā aʻa o nā lālā);

- kahi nui nui ʻole o ke kumu;

- kahi nui nui ʻole o ke anapuni cranial: macrocephaly;

- hypoplasia: lohi ka ulu ʻana o kahi aʻa a me / a i ʻole kahi meaola.

ʻO ka lohi o ka mākaukau kaʻa he mea nui ia o ka pathology.

Pili paha nā hopena ʻē aʻe, e like me ka apnea hiamoe, nā maʻi pepeiao hou, nā pilikia lohe, nā niho niho, kyphosis thoracolumbar (deformation o ka iwi kuamoʻo).

I nā hihia ʻoi loa o ka maʻi, hiki i ka compression o ke kuamoʻo ke pili iā ia e hana ana i nā hanana o ka apnea, ka lohi o ka hoʻomohala a me nā hōʻailona pyramidal (nā maʻi āpau o nā mākau kaʻa). Hoʻohui ʻia, hiki i ka hydrocephalus ke alakaʻi ʻia i nā hemahema neurological a me nā maʻi maʻi maʻi.

Loaʻa ka poʻe me ka maʻi i ka awelika o 1,31 m no nā kāne a me 1,24 m no nā wahine.

Eia hou, ʻike nui ʻia ka momona i kēia mau maʻi. (1)

ʻO ke kumu o achondroplasia he genetic.

ʻOiaʻiʻo, ʻo ka hoʻomohala ʻana o kēia maʻi nā hopena mai ka hoʻololi ʻana i loko o ka gen FGFR3. Hāʻawi kēia gen i ka hoʻokumu ʻana o ka protein i pili i ka hoʻomohala ʻana a me ka hoʻoponopono ʻana o ka iwi a me ka lolo.

Aia ʻelua mau hoʻololi kikoʻī i kēia ʻaoʻao. Wahi a nā ʻepekema, ʻo kēia mau hoʻololi i nīnau nui ʻia ke kumu o ka hoʻā nui ʻana o ka protein, keakea i ka ulu ʻana o ka iwi iwi a alakaʻi i nā iwi deformities. (2)

Hoʻouna ʻia ka maʻi e kahi autosomal dominant process. A i ʻole, ʻo kēlā wale nō o nā kope ʻelua o ka gen mutated o ka hoihoi i lawa no ke kumuhana e hoʻomohala i ka phenotype maʻi e pili pū ana. ʻO nā mea maʻi me ka achondroplasia a laila hoʻoilina lākou i kahi kope o ka gen FGFR3 mutated mai kekahi o nā mākua maʻi ʻelua.

Ma kēia ʻano hoʻoili, no laila aia he 50% pilikia o ka lawe ʻana i ka maʻi i nā keiki. (1)

ʻO nā kānaka e hoʻoili nei i nā kope mutated ʻelua o ka ʻaoʻao o ka hoihoi e hoʻomohala i kahi ʻano koʻikoʻi o ka maʻi e hopena ana i ka lālā koʻikoʻi a me ka iwi liʻiliʻi. Hānau pinepine ʻia kēia mau mea maʻi a make koke ma hope o ka hānau ʻana mai ka hanu ʻole. (2)

ʻO nā kumu pilikia no ka maʻi he genetic.

I ka ʻoiaʻiʻo, lawe ʻia ka maʻi ma o ka autosomal domant transfer e pili ana i ka gen FGFR3.

Hōʻike kēia kumuhana o ka lawe ʻana i ke kū hoʻokahi o kahi kope hoʻokahi o ka gen mutated i lawa no ka ulu ʻana o ka maʻi.

I kēia ʻano, ʻo kekahi me kāna mau mākua ʻelua e ʻehaʻeha nei i kēia maʻi pilikino he 50% ka pilikia o ka hoʻoili ʻana i ka gen mutated, a no laila ke hoʻomohala nei hoʻi i ka maʻi.

ʻO ka hōʻoia o ka maʻi ka mea mua o nā mea āpau. ʻOiai, i ka nānā ʻana i nā ʻano ʻano kino like ʻole: rhizomelia, hyper-lordosis, brachydactyly, macrocephaly, hypoplasia, a pēlā aku. Hiki i ke kauka ke kuhiakau i ka maʻi i loko o ke kumuhana.

Hoʻopili ʻia me kēia ʻike mua, hiki i nā hoʻāʻo genetics ke kuhikuhi i ka hiki ke loaʻa o ka gen FGFR3 mutated.

Hoʻomaka ka mālama ʻana i ka maʻi me ka pale ʻana. Kōkua kēia i ka pale ʻana i ka ulu ʻana o nā pilikia, hiki ke make i nā mea maʻi me ka achondroplasia.

Pono pono ke ʻoki kino no ka hydrocephalus i nā keiki hānau hou. Hoʻohui ʻia, hiki ke hana i nā kaʻina hana ʻē aʻe i mea e hoʻolōʻihi ai i nā lālā.

Mālama ʻia nā maʻi pepeiao, nā maʻi pepeiao, nā pilikia lohe, a pēlā aku.

ʻO ke kuhikuhi ʻana i nā papa ʻōlelo haʻi ʻōlelo hiki ke lilo i mea pono no kekahi kumuhana maʻi.

Adenotonsillectomy (ka hoʻoneʻe ʻana i nā tonsil a me nā adenoids) hiki ke hana ʻia i ka mālama ʻia ʻana o ka apnea hiamoe.

Hoʻohui ʻia i kēia mau lapaʻau ʻana a me nā ʻoki kino ʻana, ka pono o ka nānā ʻana i ka meaʻai a me ka papaʻai no nā keiki maʻi.

ʻO ke ola o nā mea maʻi ma lalo iki o ke kau o ke ola o ka lehulehu. Eia kekahi, ʻo ka hoʻomohala ʻana i nā pilikia, i loko o ka maʻi puʻuwai, hiki ke loaʻa nā hopena maikaʻi ʻole ma ka wānana nui o nā mea maʻi. (1)