ʻO ka maʻi Pompe: he aha ia, nā ʻōuli a me nā lāʻau

Anter

• Nā Hōʻailona o ka Maʻi Pompe
• ʻIke o ka maʻi o Pompe
• Pehea ka lāʻau
• ʻO Physiotherapy no ka maʻi o Pompe

ʻO ka maʻi o Pompe kahi maʻi neuromuscular laha ʻole o ke kumu pilikino e hōʻike ʻia e ka nāwaliwali o ka nāwaliwali a me ka hoʻololi ʻana o ka naʻau a me nā hanu, i hiki ke hōʻike ʻia i nā mahina he 12 i ke ola a i ʻole ma hope o ka wā kamaliʻi, ʻōpio a makua paha.

Kū aʻe ka maʻi o Pompe ma muli o ka hemahema o kahi enzyme kuleana no ka haki o ka glycogen i nā mākala a me ke ake, alpha-glucosidase-acid, a i ʻole GAA. Ke loaʻa ʻole kēia enzyme a i ʻole ʻike ʻia i loko o nā hoʻohaʻahaʻa haʻahaʻa loa, hoʻomaka ka glycogen e hōʻiliʻili, kahi e hopena ai ka luku ʻia ʻana o nā hunaola mākala, a hiki i ke ʻano o nā ʻōuli.

ʻAʻohe o kēia maʻi i hoola ʻia, akā he mea nui ia e hiki ke ʻike ʻia i ka hikiwawe loa i hiki ʻole ai ke hoʻomohala i nā ʻōuli e hōʻino i ke ola o ke kanaka. ʻOiai ʻaʻohe mea hoʻōla, mālama ʻia ka maʻi o Pompe ma o ka hoʻololi ʻana i ka enzyme a me nā kauila physiotherapy.

Nā Hōʻailona o ka Maʻi Pompe

ʻO ka maʻi o Pompe kahi ʻano moʻokūʻauhau a hoʻoilina hoʻi, no laila hiki ke ʻike ʻia nā ʻōuli i kēlā me kēia makahiki. Pili nā ʻōuli e like me ka hana o ka enzyme a me ka nui o glycogen i hōʻiliʻili ʻia: ʻo ka haʻahaʻa o ka hana o GAA, ʻo ka nui o ka nui o ka glycogen a, no laila, ʻoi aku ka nui o ka pōʻino o nā hunaola.

ʻO nā hōʻailona nui a me nā hōʻailona o ka maʻi o Pompe:

• Nāwaliwali nā mākala holomua;
• ʻEha ʻeha;
• Hele hū ʻole ma nā kīʻī;
• Piʻi piʻi piʻi i ke alapiʻi;
• Ka pilikia o ka hanu me ka ulu ʻana o ka hanu i hope ʻole;
• Paʻa i ka nau ʻana a me ka ale ʻana;
• Ua hemahema ka hoʻomohala kaʻa no ka makahiki;
• ʻEha ma ka ʻaoʻao haʻahaʻa;
• ʻO ka paʻakikī e ala aʻe mai ka noho ʻana a i ʻole ke moe ʻana i lalo.

Eia hou, inā he mea liʻiliʻi a ʻaʻohe hana o ka GAA enzyme, hiki nō i ka mea i loaʻa ka puʻuwai a me ka ake nui.

ʻIke o ka maʻi o Pompe

Kuhi ʻia ka maʻi o Pompe e ka hōʻiliʻili ʻana i kahi koko liʻiliʻi e loiloi i ka hana o ka GAA enzyme. Inā loaʻa ka liʻiliʻi a ʻaʻohe hana, lawe ʻia ka hoʻāʻo genetic e hōʻoia i ka maʻi.

Hiki ke koho pono i ke pēpē ʻoiai hāpai ia, ma o ka amniocentesis. Pono e hana i kēia hōʻoia ma ka hihia o nā mākua i loaʻa mua kahi keiki me ka maʻi o Pompe a i ʻole ke loaʻa ʻana o kahi o nā mākua i ke ʻano hope loa o ka maʻi. Hiki ke hoʻohana ʻia ka hoʻokolohua DNA ma ke ʻano he kākoʻo i ke kuhi ʻana i ka maʻi o Pompe.

Pehea ka lāʻau

Kūpono ka mālama ʻana no ka maʻi o Pompe a hana ʻia me ka noi o ka enzyme i hana ʻole ʻia e ka mea maʻi, ʻo ka enzyme alpha-glucosidase-acid. No laila, hoʻomaka ke kanaka e hoʻohaʻahaʻa i ka glycogen, e pale ana i ka ulu ʻana o ka hōʻino ʻana i nā mākala. Hoʻomaulia ʻia ka lāʻau enzyme e like me ke kaupaona o ka mea maʻi a hoʻopili pololei ʻia i ka aa i kēlā me kēia 15 lā.

E ʻoi aku ka maikaʻi o nā hopena ma mua o ka hana ʻia ʻana o ke kuhi a hoʻokō ʻia ka lapaʻau, kahi e hoʻoliʻiliʻi maoli ai i ka pohō o ke kelepona i hoʻokumu ʻia e ka hōʻiliʻili o glycogen, i hiki ʻole ke hoʻololi ʻia a, no laila, e loaʻa i ke ahonui ke ʻano maikaʻi o ke ola.

ʻO Physiotherapy no ka maʻi o Pompe

ʻO ka Physiotherapy no ka maʻi o Pompe kahi ʻāpana nui o ka mālama ʻana a lawelawe e hoʻoikaika a hoʻonui i ka hoʻomanawanui ʻana i nā mākala, kahi e alakaʻi ʻia ai e kekahi physiotherapist loea. Eia hou, he mea nui e hoʻokō ʻia ka physiotherapy hanu, no ka mea he paʻakikī paha ka nui o nā mea maʻi i ka hanu ʻana.

ʻO ka hoʻomaikaʻi ʻana me ka therapist ʻōlelo, ka pulmonologist a me ka cardiologist a me ka psychologist pū kekahi i kahi hui multidisciplinary ka mea nui.