Ua lohe anei ʻoe i ka maʻi Pompe? E kamaʻilio kākou e pili ana i ia mea me nā kikoʻī!

Ua lohe paha ʻoe i kahi maʻi me ka inoa ʻē i kapa ʻia ʻo Pompe Disease? Malia paha he mea hou kēia inoa iā ʻoe. He mea laha ʻole kēia, ʻo ia hoʻi, ʻaʻole ia he maʻi e pili ana i nā kānaka a pau. Akā, he mea nui loa ia e ʻike e pili ana i ia mea, no ka mea, he ʻano hoʻoilina ia, ʻo ia hoʻi, ua hoʻoili ʻia i nā hanauna. ʻO kēia ke kumu o ka hōʻiliʻili ʻana o kahi ʻano kō i kapa ʻia ʻo `(glycogen)` i loko o nā pūnaewele o ko kākou kino. No laila, i kēia lā e kamaʻilio wale mākou e pili ana i ke ʻano o kēia maʻi Pompe, pehea e ulu ai, he aha nā hōʻailona, ​​a aia kekahi lāʻau lapaʻau.

He aha ka maʻi Pompe?

I ka ʻōlelo maʻalahi, ʻo ka maʻi Pompe kahi maʻi genetic e pili ana i ka hui o nā maʻi mālama glycogen. Loaʻa i ko mākou kino kahi enzyme i kapa ʻia ʻo `(acid alpha-glucosidase)` a i ʻole `(GAA)`. Hoʻopau kēia enzyme i ke kō paʻakikī `(glycogen)` i loko o ko mākou kino, ʻo ia hoʻi, hoʻoheheʻe iā ia, a kōkua i ka hana ʻana i ka ikehu. No laila, ʻaʻole hana pono ke kanaka me ka maʻi Pompe i kēia enzyme `(GAA)`, a he kakaikahi paha kāna.

He aha ka mea e hana ʻia? ʻO kēlā ʻano kō i kapa ʻia ʻo `(glycogen)` ʻaʻole ia e haki pono a hōʻiliʻili i loko o nā ʻāpana liʻiliʻi i kapa ʻia ʻo `(lysosomes)` i loko o nā pūnaewele o ke kino. E noʻonoʻo e like me kahi ʻōpala, inā ʻaʻole i lawe ʻia ka ʻōpala, e piha ia. ʻO kēia mau `(lysosomes)` nā wahi e hana hou ʻia ai nā mea i loko o kā mākou mau pūnaewele, ʻo ia hoʻi, ua hana ʻia lākou i hiki ke hoʻohana hou ʻia. No laila, no ka mea, ʻaʻole hana pono kēia enzyme `(GAA)`, hoʻopiha ʻia `(glycogen)` i loko o kēia mau `(lysosomes). Ma kēia ʻano, hōʻiliʻili nui ʻia `(glycogen)` i loko o ko mākou mau ʻiʻo puʻuwai a me nā ʻiʻo iwi. Ke hōʻiliʻili ʻia e like me kēlā, ua hōʻino ʻia kēlā mau ʻōkana a hoʻomaka mālie lākou e nāwaliwali.

Ua kapa ʻia hoʻi kēia maʻi:

• ʻO ka maʻi o Pompe (ka maʻi o Pompe)
• `(Ka hemahema o ka waikawa maltase)` (Ka hemahema o ka waikawa maltase)
• `(Maʻi mālama glycogen ʻano II (GSD2))` (Maʻi mālama glycogen - ʻano II)

He aha nā ʻano nui o ka maʻi Pompe?

Ua māhele nui ʻia ka maʻi Pompe i ʻelua ʻano, ma muli o ka makahiki o ka hoʻomaka ʻana a me ke koʻikoʻi o nā hōʻailona.

ʻO ka maʻi Pompe i ka wā kamaliʻi

ʻO kēia ke ʻano koʻikoʻi loa o ka maʻi Pompe. Hiki mai kēia ʻano ke nele loa ka enzyme (acid alpha-glucosidase (GAA)) a i ʻole he liʻiliʻi wale nō ka nui. I kekahi manawa, ʻaʻole paha e hōʻike ka pēpē i kekahi mau hōʻailona i ka wā hānau. Eia nō naʻe, hoʻomaka pinepine nā hōʻailona e ʻike ʻia i loko o ka makahiki mua o ke ola, ma kahi o 4 mau mahina o ka makahiki.

Loaʻa i kēia mau keiki ka nāwaliwali nui o nā ʻiʻo , kahi akepaʻa i hoʻonui ʻia, a me kahi puʻuwai i hoʻonui ʻia ma muli o ka nāwaliwali o nā ʻiʻo puʻuwai (cardiomyopathy). He maʻi holomua loa kēia. Inā ʻaʻole mālama pono ʻia, hiki i kēia mau keiki ke make i ka hāʻule ʻana o ka puʻuwai a i ʻole ka hāʻule ʻana o ka hanu i loko o hoʻokahi a ʻelua paha makahiki. He kūlana kaumaha loa kēia.

ka maʻi Pompe hoʻomaka hope

Hiki i kēia ʻano maʻi Pompe ke hōʻike i kēlā me kēia makahiki. Hiki ke ʻike ʻia ma mua o hoʻokahi makahiki o ka makahiki, akā me ka ʻole o ka puʻuwai e hoʻonui ʻia (he hiʻohiʻona ʻokoʻa ia mai ka maʻi i ka wā kamaliʻi), a i ʻole hiki ke ʻike ʻia i ka wā kamaliʻi, ʻōpio, a i ʻole ka wā makua. He haʻahaʻa ka pae o ka enzyme ``(GAA)`` o kēia poʻe, akā ʻaʻole haʻahaʻa e like me nā pēpē.

ʻOi aku ka maʻalahi o kēia ʻano a ʻoi aku ka liʻiliʻi o ke koʻikoʻi ma mua o ke ʻano pēpē, akā pili ia i ka makahiki e hoʻomaka ai nā hōʻailona. ʻOi aku ka koʻikoʻi o ke ʻano o nā keiki e loaʻa ana nā hōʻailona i ka wā kamaliʻi.

ʻO ka hōʻailona nui ka nāwaliwali o nā ʻiʻo (`(myopathy)`). Hiki i kēia ke pilikia i ka hanu ʻana. Eia nō naʻe, ʻaʻole paha e hoʻopilikia ʻia ka puʻuwai. Inā ʻaʻole mālama ʻia, hiki i nā pilikia hanu ke alakaʻi i ka make.

Pehea ka maʻamau o ka maʻi Pompe?

He maʻi hoʻoilina laha ʻole ka maʻi Pompe. No ka laʻana, ma ʻAmelika Hui Pū ʻIa, loaʻa kēia maʻi ma kahi o hoʻokahi i loko o 40,000 poʻe. Ma Sri Lanka, he paʻakikī ke loaʻa nā helu kikoʻī e pili ana i kēia, akā ua maopopo he maʻi laha ʻole kēia.

He aha nā hōʻailona o ka maʻi Pompe?

ʻO ka hōʻailona nui o ka maʻi Pompe ka nāwaliwali o nā mākala holomua , ʻoiai ma nā pūhaka, nā wāwae, nā poʻohiwi, nā lima, a me ka diaphragm, ke mākala nui ma waena o ka umauma a me ka ʻōpū.

Nā hōʻailona o Pompe i ka wā kamaliʻi:

• Hiki ke palupalu nā ʻiʻo, nele i ka paʻa (hypotonia). Hiki ke ʻike ʻia ke kino he palupalu, e like me ka "limp o ka pēpē".
• Ka hoʻonui ʻia ʻana o ka puʻuwai (`(cardiomegaly)`)
• ʻAkepaʻa i hoʻonui ʻia (`(hepatomegaly)`)
• ʻAlelo i hoʻonui ʻia (macroglossia)
• ʻAʻole e ulu pono ('failure to thrive'). ʻO ke ʻano kēia, ʻaʻole e piʻi pono ke kaumaha o ka pēpē a ʻaʻole hoʻi e ulu kiʻekiʻe.
• Paʻakikī ka hanu ʻana.
• Ka paʻakikī i ka ʻai ʻana a me ka inu ʻana i ka waiū.
• Nā maʻi hanu pinepine (e.g. pneumonia).
• Ka hemahema o ka lohe.

Nā hōʻailona o ka Pompe i hoʻopaneʻe ʻia:

He ʻoluʻolu paha kēia mau hōʻailona a e ʻoi aku ka ʻino i ka hala ʻana o ka manawa. Eia nō naʻe, hiki iā lākou ke hoʻoulu i ka nāwaliwali nui a me ka pilikia hanu.

• Ka nāwaliwali mālie ʻana o nā ʻiʻo ma nā wāwae a me ke kino.
• Ka paʻakikī o ka hele wāwae, ka hāʻule pinepine ʻana.
• ʻEha ma nā wahi like ʻole o ke kino, ʻoi aku hoʻi ma nā ʻiʻo.
• Ka nalowale ʻana o ka hiki ke hoʻoikaika kino, holo, a lele.
• Nā maʻi hanu pinepine.
• Paʻakikī ka hanu ʻana (dyspnea) ke luhi iki.
• ʻEha poʻo i ke kakahiaka.
• Manaʻo nui i ka luhi i ke ao.
• Ka pohō kaumaha i manaʻo ʻole ʻia.
• Ka paʻakikī i ka ale ʻana i ka meaʻai (dysphagia).
• Nā ʻano kūpono ʻole o ka puʻuwai (`(arrhythmia)`).
• Ka emi mālie ʻana o ka hiki ke lohe.

He aha nā kumu o ka maʻi Pompe?

Hoʻokumu ʻia ka maʻi Pompe e nā mutations i loko o ka gene `(GAA)`. ʻO kēia gene `(GAA)` ke kuleana no ka hana ʻana i ka enzyme `(acid alpha-glucosidase)` i ʻōlelo ʻia ma mua. Hoʻopau kēia enzyme i ke kō paʻakikī `(glycogen)`.

ʻO ka maʻamau, hoʻololi ko mākou kino i kēia `(glycogen)` i `(glucose)`, kahi i hoʻohana ʻia no ka ikehu. Hana ka enzyme `(Acid alpha-glucosidase)` i loko o nā keʻena i kapa ʻia ʻo `(lysosomes)` i loko o kā mākou mau cell. E noʻonoʻo i kēia mau `(lysosomes)` he mau kikowaena hana hou i loko o kā mākou mau cell. Hoʻopau nā enzymes i nā mea like ʻole a kuhikuhi iā lākou e hana i nā hana hou no ke kino, no ka laʻana, e hāʻawi i ka ikehu.

No laila, inā loaʻa iā ʻoe ka maʻi Pompe, ʻo nā hoʻololi ʻana i loko o ka gene `(GAA)` ke kumu o ka emi ʻana o ka hana ʻana o ka enzyme `(acid alpha-glucosidase)` a i ʻole ka nalowale loa. Me ka ʻole o kēia enzyme, ʻaʻole hiki i kou kino ke wāwahi pono i ka `(glycogen)`. A laila hōʻiliʻili ka `(glycogen)` i loko o kēlā mau `(lysosomes)`, e hōʻeha nui ana i nā ʻiʻo. ʻO kēia ke kumu nui o nā hōʻailona.

Ua hoʻoilina ʻia kēia maʻi ma ke ʻano autosomal recessive. ʻO ke ʻano kēia, pono i kou mau mākua ʻelua ke hoʻoili i ka gene i hoʻololi ʻia iā ʻoe. ʻO ka maʻamau, ʻo nā mākua wale nō ka mea lawe i ka maʻi, ʻo ia hoʻi, ʻaʻole lākou e hōʻike i nā hōʻailona. Akā, loaʻa iā lākou ka gene i hoʻololi ʻia.

He aha nā pilikia o ka maʻi Pompe?

Inā ʻaʻole mālama ʻia, hiki i ka maʻi Pompe, ka mea e hoʻomaka ana i ka wā kamaliʻi, ke make i ka wā kamaliʻi. Nui ka poʻe me ka maʻi Pompe e loaʻa i nā pilikia hanu a me ka puʻuwai. Loaʻa i ka aneane nā maʻi āpau ka nāwaliwali o nā ʻiʻo. I kekahi manawa o ko lākou ola, pono paha ka nui o ka poʻe i ke kākoʻo oxygen a me nā mea kōkua no nā mea e like me ka hele wāwae.

Pehea e ʻike ʻia ai ka maʻi Pompe?

E nānā mua kāu kauka iā ʻoe ma ke kino a nīnau e pili ana i ka mōʻaukala olakino o kou ʻohana. A laila, e lawe lākou i kahi hāpana koko a hoʻāʻo no kahi enzyme i kapa ʻia ʻo "creatine kinase". Hiki i kēia ke kōkua i ka hoʻoholo ʻana inā ua hōʻino ʻia nā ʻiʻo. ʻO kahi hoʻāʻo kikoʻī loa, ʻo ia ke ana i ka hana o ka enzyme "(GAA)" i loko o kou koko. Hiki iā ʻoe ke loaʻa i ka "hoʻāʻo genetic" a i ʻole ka hoʻāʻo genetic e aʻo i ka gene "(GAA)" i loko o kou kino.

Eia kekahi, hiki ke hana ʻia nā hoʻokolohua penei:

• Nā hoʻāʻo hana puʻuwai : Ke ana kēia i ka hiki o nā māmā.
• Electromyography (EMG) : Ke ana kēia i ka maikaʻi o ka hana ʻana o kou mau ʻiʻo.
• Nā hoʻāʻo puʻuwai : Hiki i kēia ke komo pū me nā hoʻokolohua e like me ka electrocardiogram (EKG) a me ka echocardiogram (echo).
• Nā haʻawina hiamoe : Hoʻopaʻa kēia mau hoʻokolohua i kekahi mau hana kino i kou wā hiamoe.

Pehea e mālama ʻia ai ka maʻi Pompe?

ʻO ke ʻano nui o ka lāʻau lapaʻau no ka maʻi PompeʻO ka Enzyme Replacement Therapy (ERT). Ma kēia, hāʻawi kāu kauka iā ʻoe i kekahi o nā lāʻau lapaʻau ma o ka intravenous:

• ʻO ka Alglucosidase alfa
• ʻO ka ʻaila glucosidase alfa (Avalglucosidase alfa)

He mau enzymes i hana ʻia e ka genetics kēia mau lāʻau lapaʻau e hana like me nā enzymes e kū maoli ana i loko o ko kākou kino. ʻO kēia lāʻau lapaʻau:

• Kōkua i ka hoʻemi ʻana i ka nui o ka puʻuwai.
• Kōkua i ka mālama ʻana i ka hana maʻamau o ka puʻuwai.
• Kōkua ia i ka hoʻomaikaʻi ʻana i ka hana o nā ʻiʻo, ka ikaika, a me ka ʻoʻoleʻa, a hoʻolohi paha i ka holomua o ka maʻi.
• Hoʻemi i ka nui o ka glycogen i mālama ʻia i loko o ke kino.

Eia kekahi, e mālama kahi hui o nā loea i kāu mau hōʻailona pilikino a hāʻawi i ka mālama e pono ai. Hiki i kēia hui ke komo pū me:

• Nā mea hoʻoponopono kino, nā mea hoʻoponopono hana, a me nā mea hoʻoponopono hanu
• Nā kauka puʻuwai
• Nā kauka lolo

Ma muli o ke koʻikoʻi o kou kūlana, pono paha ʻoe:

• Hoʻōla kino a i ʻole ka hoʻōla hana.
• He paipu no ka hānai ʻana (`(feeding tube)`).
• He kākoʻo hanu hana (`(mechanical ventilation)`).

Ke hana nei nā kānaka ʻepekema i nā hoʻokolohua lapaʻau o ka lāʻau lapaʻau gene no ka maʻi Pompe. Pili ka lāʻau lapaʻau gene i ka hoʻololi ʻana i nā genes i hōʻino ʻia me nā mea olakino. Hiki i kēia i kou kino ke hana pono i ka waikawa enzyme alpha-glucosidase. He manaʻolana nui kēia no ka wā e hiki mai ana.

Hiki ke pale ʻia ka maʻi Pompe?

He maʻi hoʻoilina ka maʻi Pompe, no laila ʻaʻole hiki ke pale ʻia . Eia nō naʻe, inā hāpai ʻoe a i ʻole e hoʻolālā ana e hāpai, he manaʻo maikaʻi e kamaʻilio me kāu kauka e pili ana i ke aʻoaʻo hoʻoilina . E kōkua kēia iā ʻoe e aʻo hou e pili ana i kēia a, inā pono, e hoʻāʻo ʻia.

Pehea ke ʻano o ke ola o ka poʻe me ka maʻi Pompe?

Inā ʻaʻole i ʻike ʻia a mālama ʻia ka maʻi i ka wā mua, make pinepine nā keiki me ka maʻi Pompe i ka wā ʻōpiopio i ka wā ʻōpiopio ma muli o ka pilikia hanu a i ʻole ka hāʻule ʻana o ka puʻuwai.

Hiki i ka poʻe me ka maʻi Pompe lohi ke ola lōʻihi no ka mea e holomua mālie ana ka maʻi. Eia nō naʻe, pili kēia i ka makahiki e hoʻomaka ai nā hōʻailona a me ke koʻikoʻi o ka maʻi. Ma keʻano laulā, ʻo ka makahiki ʻelemakule o ka makahiki e hoʻomaka ai nā hōʻailona, ​​ʻo ka lohi o ka holomua ʻana o ka maʻi.

Āhea ʻoe e ʻike ai i ke kauka?

Inā loaʻa iā ʻoe a i ʻole kāu keiki nā hōʻailona o ka maʻi Pompe, pono ʻoe e ʻike koke i ke kauka . Hiki i ka ʻike mua ʻana ke hoʻomaikaʻi nui i ke ʻano o ke ola no nā keiki a me nā pākeke me kēia maʻi.

Pehea wau a i ʻole kaʻu keiki e mālama ai iā lākou iho me kēia maʻi?

Inā loaʻa iā ʻoe a i ʻole kāu keiki ka maʻi Pompe, e noʻonoʻo e kamaʻilio me kahi loea noʻonoʻo. Hiki i kahi loea noʻonoʻo ke kōkua iā ʻoe e hoʻomaopopo maikaʻi i ke kūlana a kōkua iā ʻoe e hoʻomanawanui maikaʻi. Aia kekahi mau hui kākoʻo kahi e hiki ai iā ʻoe ke hālāwai me nā poʻe ʻē aʻe e hele nei i nā kūlana like a kaʻana like i nā ʻike.

I ka manawa pinepine, hiki i nā mea mālama ke loaʻa ka luhi nui a i ʻole ke kaumaha (luhi a luhi paha o ka mea mālama). He mea maʻamau kēia, akā he mea nui e mālama iā ʻoe iho a me kāu keiki.

He aha kaʻu e nīnau aku ai i nā kauka e pili ana i ka maʻi Pompe?

Inā ʻike ʻia ʻoe a i ʻole kāu keiki me ka maʻi Pompe, makemake paha ʻoe e nīnau i kāu kauka e like me:

• He aha ke ʻano o ka maʻi Pompe i loaʻa i kaʻu keiki?
• He aha kāu e ʻōlelo ai e pili ana i ke ola o kaʻu keiki?
• He aha ke ʻano o nā loea e pono ai mākou e ʻike?
• ʻEhia pinepine e pono ai iaʻu e ʻike i kēia mau loea?
• He aha kaʻu e hana ai e ʻoluʻolu ai kaʻu pēpē?
• He manaʻo maikaʻi anei ka hana ʻana i nā hoʻāʻo genetic no nā lālā ʻē aʻe o ka ʻohana?
• Pehea e hiki ai iaʻu ke aʻo e ola maikaʻi me ka maʻi Pompe?

Inā loaʻa iā ʻoe a i ʻole kāu keiki ka maʻi Pompe, e nīnau i kāu kauka e pili ana i ke komo ʻana i kahi hui kākoʻo. Hiki i ka kaʻana like ʻana i kāu mau ʻike a me ke aʻo ʻana mai nā poʻe ʻē aʻe ke kōkua nui a hōʻoluʻolu hoʻi. E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. ʻOiai ʻaʻohe lāʻau lapaʻau no ka maʻi Pompe, ke hoʻomau nei nā kānaka ʻepekema i ka noiʻi ʻana i nā lāʻau lapaʻau. Ke aʻo nei nā kauka i kekahi mau lāʻau lapaʻau kūpono e hiki ke kōkua i ka kaohi ʻana i ka laha ʻana o nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola o kāu keiki.

Leka Lawe-Home

I ka hopena, he maʻi laha ʻole ka maʻi Pompe, he maʻi hoʻoilina. ʻO ia ke kumu nui o ka nāwaliwali o nā ʻiʻo. ʻElua ʻano, ke ʻano hoʻomaka pēpē a me ke ʻano hoʻomaka lohi. He mea nui loa ka ʻike mua ʻana a me ka mālama ʻana, e like me ka Enzyme Replacement Therapy (ERT). Hiki i ka poʻe e noho nei me kēia maʻi a me ko lākou mau ʻohana ke pōmaikaʻi nui mai ke kākoʻo noʻonoʻo a me nā hui kākoʻo. Ke hoʻomau nei ka noiʻi ʻana i nā lāʻau lapaʻau hou, aia ka manaʻolana no ka wā e hiki mai ana. Inā he mau nīnau kāu e pili ana i kēia, mai kānalua e kamaʻilio me ke kauka.

ʻO ka maʻi Pompe, ka maʻi mālama glycogen, ka waikawa alpha-glucosidase, ka enzyme GAA, nāwaliwali o nā ʻiʻo, ka lāʻau hoʻololi enzyme, ka maʻi genetic, Pompe hoʻomaka pēpē, Pompe hoʻomaka hope, ka maʻi mālama lysosomal