Achondroplasia

ʻO Achondroplasia kahi maʻi o ka ulu o ka iwi e kumu i ka ʻano maʻamau o ka dwarfism.

ʻO Achondroplasia kekahi o nā hui o nā maʻi i kapa ʻia ʻo chondrodystrophies, a i ʻole osteochondrodysplasias.

Hiki ke hoʻoilina ʻia ʻo Achondroplasia ma ke ʻano he autosomal mana nui, ʻo ia hoʻi inā loaʻa i kahi keiki ka gen defective mai hoʻokahi makua, e loaʻa i ke keiki ka maʻi. Inā loaʻa kahi makua i ka achondroplasia, loaʻa i ka pēpē kahi 50% manawa e hoʻoilina ai i ka maʻi. Inā loaʻa ke kūlana i nā mākua ʻelua, hoʻonui ka manawa o ka pēpē i ka 75%.

Eia nō naʻe, ʻike ʻia ka hapanui o nā hihia me he mutation spontaneous. ʻO ke kumu o kēia hiki i nā mākua ʻelua me ka ʻole achondroplasia ke hānau i kahi pēpē me ke ʻano.

Hiki ke ʻike ʻia ke ʻano maʻamau o ka achondroplastic dwarfism i ka wā hānau. Pākuʻi ʻia paha nā ʻōuli:

• ʻO ka helehelena maʻamau me ka wahi mau i waena o nā manamana lōʻihi a me nā apo
• Nā wāwae kūlou
• Hoʻoiho i ke kani o ka mākala
• Kūlike ʻole ka nui o ke poʻo i ka-kino
• Ka lae kaulana (frontal bossing)
• Nā lima a me nā wāwae i hoʻopōkole ʻia (ʻo ka lima hoʻi a ʻo ka ʻūhā luna)
• ʻO ke kino pōkole (ʻoi loa ma lalo o ke kiʻekiʻe waena no ke kanaka o ka makahiki a me ka wahine like)
• Pahu o ka iwi kolamu (iwi kuamoʻo stenosis)
• ʻO nā curvature Spine i kapa ʻia ʻo kyphosis a me lordosis

I ka wā hāpai, hiki i kahi ultrasound prenatal ke hōʻike i ka wai amniotic nui e hoʻopuni ana i ka pēpē i hānau ʻole ʻia.

ʻO ka nānā ʻana i ke pēpē ma hope o ka hānau ʻana e hōʻike i ka nui o ke poʻo i mua o hope. Aia paha he mau hōʻailona o hydrocephalus ("wai ma ka lolo").

Hiki i nā kukuna X o nā iwi lōʻihi ke hōʻike achondroplasia i ka hānau hou.

ʻAʻohe mālama kūikawā no ka achondroplasia. ʻO nā mea kūpono ʻole e pili ana, e like me ka stenosis spinal and compression cord spinal, pono e mālama ʻia ke pilikia lākou.

Kākaʻikahi ka poʻe me ka achondroplasia e hōʻea i 5 kapuaʻi (1.5 mau mika) ke kiʻekiʻe. Aia ka ʻike ma ka pae maʻamau. ʻO nā pēpē i loaʻa i ka ʻāpana ʻokoʻa mai nā mākua ʻelua ʻaʻole lākou e noho ma mua o kekahi mau mahina.

Nā pilikia olakino e hoʻomohala pū paha me:

• Nā pilikia hanu mai kahi alaloa ākea o luna a mai ke kaomi ma kahi o ka lolo e kaohi ana i ka hanu
• Nā pilikia o ka lepa mai kahi ribcage liʻiliʻi

Inā aia kahi moʻolelo ʻohana o achondroplasia a hoʻolālā ʻoe e loaʻa nā keiki, ʻike paha ʻoe he mea maikaʻi ke kamaʻilio me kāu kauka olakino.

He mea kōkua paha ke aʻoaʻo aʻoaʻo kūlohelohe no nā mākua e hiki mai ana ke loaʻa kahi achondroplasia i kekahi. Eia nō naʻe, no ka ulu pinepine ʻana o ka achondroplasia i ka manawa pinepine, ʻaʻole hiki ke kāohi.

Hoover-Fong JE, Horton WA, Hecht JT. Nā maʻi e pili ana i nā mea loaʻa transmembrane. I: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 716.

Nā maʻi o Krakow D. FGFR3: thanatophoric dysplasia, achondroplasia, a me hypochondroplasia. I: Copel JA, DAlton ME, Feltovich H, et al, eds. Kiʻi Obstetric: Diagnosis Fetal a me ka mālama. ʻElua ed. Piladelapia, PA: Elsevier; 2018: chap 50.