Pehea e ʻike ai a mālama ai i ka maʻi maʻi Aase-Smith

Anter

• Pehea e hana ai i ka lāʻau
• He aha ka mea e hiki ai i kēia maʻi maʻi
• Pehea e hana ʻia ai ke kuhi

ʻO Aase Syndrome, ka mea i ʻike ʻia ʻo Aase-Smith Syndrome, kahi maʻi maʻamau i loaʻa i nā pilikia e like me ka anemia mau a me nā malformations i nā hono a me nā iwi o nā ʻāpana like ʻole o ke kino.

ʻO kekahi o nā hana hewa pinepine pinepine ʻia e:

• Nā hui pū, nā manamana lima a me nā manamana wāwae, liʻiliʻi a i ʻole ke alo;
• Pāhaʻa cleft;
• Pepeiao deformed;
• ʻŌniu maka eyelids;
• Ka paʻakikī e hoʻonui piha i nā hono;
• Poʻohiwi kūiki;
• ʻIli mae loa;
• Pākuʻi ʻia ma nā manamana nui.

Kū aʻe kēia maʻi maʻi mai ka hānau ʻana a kū ma muli o ka hoʻololi ʻana o ka maʻi āpau i ka wā hāpai, ʻo ia ke kumu, i ka hapanui o nā hihia, he maʻi maʻi ʻole ia. Eia nō naʻe, aia kekahi mau hihia kahi e hele ai ka maʻi mai nā mākua a i nā keiki.

Pehea e hana ai i ka lāʻau

Hōʻike pinepine ʻia ka mālama ʻana e kahi pediatrician a me nā transfusions o ke koko i ka makahiki mua o ke ola e kōkua i ka mālama ʻana i ka anemia. I loko o nā makahiki, ua emi mai ka liʻiliʻi o ka ʻōlelo anemia a, no laila, ʻaʻole pono hou ke transfusions, akā he ʻōlelo aʻoaʻo e loaʻa i nā hoʻokolohua koko pinepine e loiloi i nā kiʻekiʻe o nā hunaola ʻulaʻula.

I nā hihia ʻoi loa, kahi hiki ʻole ke kaulike i nā pae o ke koko ʻulaʻula me nā transfusions koko, pono paha e loaʻa kahi iwi o ka iwi. E ʻike pehea e hana ai i kēia lapaʻau a me nā mea ʻino.

ʻAʻole koi iki nā malformations i ka mālama ʻana, no ka mea ʻaʻole lākou e hōʻino i nā hana o kēlā me kēia lā. Akā inā hiki kēia, hiki i ka pediatrician ke ʻōlelo i ke ʻoki ʻana e hoʻāʻo e kūkulu hou i ka pūnaewele i hoʻopili ʻia a hoʻihoʻi i ka hana.

He aha ka mea e hiki ai i kēia maʻi maʻi

Hoʻokumu ʻia ʻo Aase-Smith Syndrome e ka hoʻololi o kekahi o nā genes 9 nui loa no ka hoʻokumu ʻana i nā protein i loko o ke kino. Hana lōkahi kēia loli, akā i nā manawa maʻamau hiki ke hele aʻe mai nā mākua a i nā keiki.

No laila, ke loaʻa nā hihia o kēia maʻi, koi pinepine ʻia e nīnau i nā ʻōlelo aʻo kūpuna ma mua o ka hāpai ʻana, e ʻike ai i ka pilikia o nā keiki me kēia maʻi.

Pehea e hana ʻia ai ke kuhi

ʻO ke kuhi o kēia maʻi hiki ke hana ʻia e ka pediatrician wale nō ma ka nānā ʻana i nā malformations, akā no ka hōʻoia ʻana i ke kuhi, kauoha paha ke kauka i kahi biopsy pūpū iwi.

E ʻike ai inā aia kekahi anemia e pili pū ana me ka maʻi puʻuwai, pono e loaʻa kahi hoʻokolohua koko e loiloi i ka nui o nā hunaola ʻulaʻula.