Ke luhi mau nei kāu keiki liʻiliʻi a palaualelo paha? Ke kū iki nei kāu keiki ma ka ʻaoʻao ke holo a pāʻani nei nā keiki ʻē aʻe o ka makahiki like? A i ʻole ke mae koke nei kāu keiki, ka hou, a me ka haʻalulu i ka wā ʻai? Ma ke ʻano he makua, he mea maʻamau iā ʻoe ke makaʻu nui i ka ʻike ʻana i kēia mau mea. ʻOiai he nui nā kumu no ia mau hōʻailona, i kēia lā e kamaʻilio mākou e pili ana i kahi kūlana kakaikahi loa akā koʻikoʻi loa e hoʻoulu ai i ia mau hōʻailona. ʻO ia ka Glycogen Storage Disease, a i ʻole (GSD) no ka pōkole.
I ka ʻōlelo maʻalahi, he aha ka maʻi mālama Glycogen (GSD)?
ʻAe, e hoʻomaopopo maʻalahi kākou i kēia. E noʻonoʻo ua like ko kākou kino me ke kaʻa. Pono ke kaʻa i ka ʻaila e holo ai. Pēlā nō, pono ko kākou kino i ka ikehu e hana i kēia mau mea a pau, e holo, lele, noʻonoʻo, a pule. ʻO ke kumu nui o ka ikehu i loko o ko kākou kino, ʻo ia ka glucose , ʻo ia hoʻi ke kō. Loaʻa iā kākou kēia glucose mai nā meaʻai carbohydrate a kākou e ʻai ai, e like me ka laiki, ka berena, a me ka ʻuala.
I kēia manawa, ke ʻai kākou, loaʻa i ko kākou kino ka glucose ma mua o ka mea e pono ai no ka ikehu i kēlā manawa. No laila he aha ka hana a ko kākou kino akamai? Mālama ia i kēlā glucose keu no ka hoʻohana ʻana ma hope. Ua like ia me ka mālama ʻana i kahi panakō mana i hoʻopiha ʻia ma kā kākou kelepona. ʻO kēia ʻano o ka mālama ʻana i ka glucose ua kapa ʻia ʻo glycogen . Mālama nui ʻia kēia glycogen i loko o ko kākou ake a me nā ʻiʻo .
Ke ʻai ʻole mākou, a i ʻole ke hoʻolilo mākou i ka nui o ka ikehu, e like me ka wā hoʻoikaika kino, hoʻololi ko mākou kino i kēlā glycogen i mālama ʻia i glucose a hoʻohana iā ia i ikehu.
Eia kēia kaʻina holoʻokoʻa, ʻo ia hoʻi, no ka hoʻololi ʻana i ka glucose i glycogen a me ka glycogen i glucose, pono ko mākou kino i kahi ʻano protein kūikawā. Kāhea mākou iā lākou he mau enzymes . Ua like ia me ka loaʻa ʻana o nā limahana e hana ma kahi hale hana.
ʻO ka maʻi mālama Glycogen (GSD) kahi kūlana e kū mai ana i ka wā e nalowale ana kekahi a ʻoi aku paha o kēia mau enzymes a i ʻole ʻaʻole hana pono i loko o ko mākou kino. ʻO ia hoʻi, ʻaʻole hiki i ke kino ke mālama pono i ka glycogen a hoʻohana paha i ka glycogen i mālama ʻia i ka wā e pono ai. Hiki i kēia ke alakaʻi i nā pilikia e like me nā pae kō koko haʻahaʻa loa (hypoglycemia) a me ka nāwaliwali o nā ʻiʻo.
Ehia mau ʻano o GSD?
ʻAe. E like me kā mākou i kūkākūkā ai ma mua, he nui nā ʻano enzymes e pili ana i ka metabolism glycogen. No laila, he nui nā ʻano GSD ma muli o ka hemahema o kēlā me kēia o kēlā mau enzymes. Ua ʻike ʻia ma mua o 19 mau ʻano a hiki i kēia manawa. ʻOiai ʻaʻole mākou i ʻike nui e pili ana iā lākou āpau, loaʻa iā mākou kahi ʻike maikaʻi o kekahi o nā ʻano nui.
ʻO kēia mau ʻano GSD e hoʻopilikia nui i ke akepaʻa a i ʻole nā ʻiʻo.Akā hiki i kekahi mau ʻano ke hoʻopilikia i nā ʻāpana ʻē aʻe o ke kino. Kāhea nā kauka i kēia mau ʻano ma ka inoa o ka enzyme i pili a i ʻole ka mea ʻepekema nāna i ʻike mua i ka maʻi. ʻO kēia mau mea, ʻo ka mea maʻamau ka ʻano GSD I (GSD type I), i ʻike ʻia hoʻi ʻo ka maʻi von Gierke.
He maʻi laha ʻole kēia. Ma kahi o hoʻokahi i loko o 100,000 mau hānau ʻana e loaʻa i ke ʻano maʻamau, ʻo ia hoʻi ke ʻano GSD I. No laila, mai makaʻu.
He aha nā hōʻailona nui o GSD? Pehea mākou e ʻike ai?
Hiki ke ʻokoʻa nā hōʻailona GSD ma muli o ke ʻano o ka maʻi a ma waena o nā kānaka me ke ʻano like. ʻO ke ʻano maʻamau o GSD, ʻo ke ʻano I, e hoʻomaka pinepine e ʻike ʻia i ka wā he ʻekolu a ʻehā mahina ka pēpē. Eia nō naʻe, hiki i kekahi mau ʻano ke hōʻike me nā hōʻailona ma hope loa, i kekahi manawa i ka wā ʻōpio.
ʻO nā hōʻailona nui ʻelua a me nā hōʻailona maʻamau:
1. Haʻahaʻa ke kō koko (hypoglycemia)
2. Luhi koke i ka wā e hoʻoikaika kino ana a pāʻani ana paha (hoʻomaʻamaʻa kino ʻole)
E nānā kākou i kēia mau hōʻailona me nā kikoʻī hou aku.
| Māhele hōʻailona | Nā hōʻailona e hōʻike ana |
|---|---|
| Nā hōʻailona o ke kō koko haʻahaʻa (Hypoglycemia) |
|
| Nā ʻano GSD maʻamau ʻē aʻe |
No ke aha e ulu ai ʻo GSD? He maʻi hoʻoilina anei ia?
ʻAe, he maʻi hoʻoilina loa ka GSD. ʻO ke ʻano kēia, ua hoʻokumu ʻia ka maʻi e nā mutations i loko o nā genes i hoʻoilina ʻia mai nā mākua a i nā keiki.
Hoʻoilina ʻia ka hapa nui o nā GSD ma ke ʻano autosomal recessive . I ka ʻōlelo maʻalahi, ʻo ia hoʻi, no ke keiki e loaʻa i ka maʻi, pono i nā mākua ʻelua ke hoʻoilina i ka gene mutated no ka maʻi. Inā hoʻoilina ʻia ka gene mai hoʻokahi makua wale nō, e lilo ke keiki i mea lawe a ʻaʻole e hōʻike i nā hōʻailona.
Eia nō naʻe, ua hoʻoilina ʻia kekahi mau ʻano kakaikahi loa, e like me ke ʻano GSD IX, ma ke ʻano i kapa ʻia ʻo ka hoʻoilina X-linked . ʻO ia hoʻi, aia ka gene no ka maʻi ma ka chromosome X. Inā hoʻoilina ke keikikāne i kēia gene, e loaʻa maoli nō iā ia nā hōʻailona.
Pehea e ʻike pono ai ke kauka i kēia maʻi?
No ka mea he maʻi laha ʻole ka GSD, hiki ke lōʻihi ka manawa e ʻike ai. Pono mua ke kauka e hōʻoia ʻaʻohe mau maʻi maʻamau ʻē aʻe. Ma hope o ka nīnau ʻana e pili ana i nā hōʻailona o kāu keiki a me ka nānā ʻana i kāu keiki, e paipai pinepine ke kauka i kekahi mau hoʻokolohua.
Hiki i kēia mau mea ke komo pū me:
- Hoʻāʻo kō koko hoʻokē ʻai: Ke nānā ʻana i nā pae kō koko ma mua o ka ʻaina kakahiaka. Inā haʻahaʻa loa ka pae kō, he hōʻailona paha ia o GSD.
- Hoʻāʻo koko Ketone: Ke hiki ʻole i ke kino ke hoʻohana i ka glucose no ka ikehu, puhi ia i ka momona no ka ikehu. I kēlā manawa, hana ʻia nā kemika i kapa ʻia he ketones. Hiki ke piʻi aʻe nā pae Ketone i loko o ke koko i nā keiki me GSD.
- Ke nānā ʻana i ka cholesterol koko (Lipid panel) a me nā pae uric acid: Hoʻokiʻekiʻe pinepine ʻia kēia mau pae i nā keiki me GSD.
- Nā hoʻāʻo hana ate: Kōkua kēia mau hoʻāʻo e hoʻoholo inā ua hōʻino ʻia ke ake.
- ʻO ke kani ultrasound o ka ʻōpū: Kōkua kēia i ka hoʻoholo ʻana inā ua hoʻonui ʻia ke akepaʻa (hepatomegaly).
- Hoʻāʻo ʻana i ka genetics: ʻO kēia ke ala maikaʻi loa e hōʻoia i ka maʻi. Lawe ʻia kahi hāpana koko e nānā i nā mutations i loko o nā genes e hana ana i nā enzymes e pili ana i ka GSD.
I kekahi mau hihia, i mea e maopopo ai he 100% o ka hōʻailona, hiki i ke kauka ke ʻōlelo aku e lawe i kahi ʻāpana liʻiliʻi o ka ʻiʻo mai ke akepaʻa a i ʻole ka ʻiʻo no ka hoʻokolokolo ʻana (biopsy) .
He aha nā lāʻau lapaʻau no kēia? Hiki ke ho'ōla loa ʻia?
ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no GSD. Akā, mai hopohopo.Aia nā lāʻau lapaʻau kūpono loa e hiki ke kāohi i nā hōʻailona a kōkua i ke keiki e ola i kahi ola maʻamau. ʻOkoʻa nā ʻano lapaʻau ma muli o ke ʻano o ka maʻi.
ʻO ka pahuhopu nui ka pale ʻana i ka hāʻule ʻana o ke kō koko i lalo loa a mālama iā lākou ma kahi pae paʻa.
Eia kekahi mau ʻano lapaʻau:
1. E hānai pinepine: ʻO nā keiki ʻōpio, hoʻāʻo lākou e mālama i ko lākou pae kō koko ma ka hānai ʻana iā lākou i kēlā me kēia mau hola.
2. Ka Hoʻohana ʻana i ka Cornstarch Maka ʻOle: He ʻano lapaʻau koʻikoʻi kēia i hoʻohana ʻia i ka mālama ʻana i ka GSD. He carbohydrate paʻakikī ka Cornstarch i paʻakikī i ko mākou kino ke hoʻoheheʻe. No laila, ke hoʻoheheʻe ʻia kahi cornstarch liʻiliʻi i ka wai a inu, hoʻokuʻu mālie ia i ka glucose i loko o ke koko. Hiki i kēia ke mālama i ka pae kō koko paʻa no kekahi mau hola. He mea kōkua nui kēia ʻano hana i ka pale ʻana i ke kō koko haʻahaʻa, ʻoiai i ka pō .
3. E mālama koke i ka hypoglycemia: I ka wā e ʻike ʻia ai nā hōʻailona o ka hypoglycemia, pono e hāʻawi ʻia nā papa glucose a i ʻole kahi mea inu kō e hoʻihoʻi koke i nā pae kō koko. ʻO ka hoʻopaneʻe ʻana i kēia hiki ke alakaʻi i nā kūlana koʻikoʻi e like me nā hopu ʻana.
4. Ka mālama ʻana no nā pilikia ʻē aʻe: No nā kūlana e like me ke kiʻekiʻe o ka cholesterol (hyperlipidemia) a me ke kiʻekiʻe o ka uric acid (hyperuricemia), e kuhikuhi ke kauka i nā lāʻau lapaʻau e pono ai (e.g. allopurinol, statins).
5. Lapaʻau Hoʻololi Enzyme (ERT): No kekahi mau ʻano GSD, e like me ka maʻi Pompe, aia kahi lāʻau e pani ai i ka enzyme i nalowale ma o ka hoʻokomo ʻana o IV. Ke aʻo ʻia nei kēia.
6. Hoʻoili ʻAke: I nā hihia i hōʻino nui ʻia ai ke akepaʻa ma muli o GSD, pono paha ka hoʻoili ʻana i ke akepaʻa ma ke ʻano he koho hope loa.
ʻO ka mea nui loa, ʻo ia ka hahai pono ʻana i nā ʻōlelo aʻoaʻo a kāu kauka a me ka meaʻai. He mea nui ka mālama ʻana i ka manawa a me ka nui o nā meaʻai a me ka palaoa kulina no ke olakino o ke keiki.
He aha nā pilikia e hiki ke kū mai i ka wā e noho ai me kēia maʻi?
Inā ʻaʻole i ʻike mua ʻia ka maʻi a mālama pono ʻia, hiki ke loaʻa nā pilikia like ʻole. ʻOkoʻa kēia mau mea ma muli o ke ʻano o ka maʻi. No ka laʻana, hiki i ka GSD type I i mālama ʻole ʻia ke hana i nā pilikia e like me:
- Ka nāwaliwali o nā iwi a me ka haki maʻalahi (osteoporosis)
- Ka lohi o ka wā ʻōpiopio
- ʻO ka ʻōpū
- Maʻi puʻupaʻa
- Nā puʻupuʻu akepaʻa ʻaʻole maʻi kanesa (adenomas hepatic)
- ʻO ka maʻi ʻōpū Polycystic (PCOS)
- Hiki i nā pae koko haʻahaʻa pinepine ke hoʻopilikia i ka hana o ka lolo.
Akā e hoʻomanaʻo, hiki ke pale ʻia ka nui o kēia mau pilikia me ka ʻike mua ʻana, ka mālama kūpono, a me ka hoʻokele ʻana.
He aha ke kūlana o ke ola o kekahi kanaka me GSD?
Aia kēia i ke ʻano o ka maʻi, pehea ka wā mua i ʻike ʻia ai, a pehea ka maikaʻi o ka mālama ʻana. Hiki i kekahi mau ʻano koʻikoʻi ke make i ka wā kamaliʻi. Akā i ka hapa nui o nā ʻano, me ka mālama pono ʻana, hiki ke ola maʻamau. E hiki i kāu kauka ke hāʻawi iā ʻoe i ka wehewehe maikaʻi loa no ke kūlana o kāu keiki.
Āhea mākou e ʻike ai i ke kauka?
Inā hōʻike mau kāu keiki i nā hōʻailona o ke kō koko haʻahaʻa a mākou i kūkākūkā ai ma mua (haʻalulu, hou, keʻokeʻo), a inā manaʻo ʻoe ʻaʻole ulu maikaʻi kāu keiki a nāwaliwali paha nā ʻiʻo, e ʻike pono i ke kauka pediatric.
No ka mea he maʻi paʻakikī ka GSD, he mea nui e ʻimi i ka lāʻau lapaʻau mai ke kauka nona ka ʻike kūikawā ma kēia wahi. E kākoʻo ke kime lapaʻau o kāu keiki iā ʻoe ma nā ʻano āpau i hiki iā ʻoe i kēia huakaʻi.
Leka Lawe-Home
- ʻO ka maʻi mālama Glycogen (GSD) he maʻi hoʻoilina kakaikahi e hiki ʻole ai i ke kino ke mālama pono a hoʻohana paha i ka glucose (kō).
- ʻO nā hōʻailona nui o ka haʻahaʻa pinepine ʻana o ke kō koko (hypoglycemia) a me ka luhi wikiwiki i ka wā hoʻoikaika kino.
- ʻOiai ʻaʻole hiki ke ho'ōla loa ʻia kēia, ma ka hoʻololi ʻana i ka meaʻai (ʻoi aku ka hoʻohana ʻana i ka palaoa kulina) a me ka mālama lapaʻau kūpono, hiki ke kaohi ʻia nā hōʻailona a hiki ke alakaʻi ʻia i kahi ola maʻamau.
- Inā loaʻa i kāu keiki kēia mau hōʻailona, he mea nui loa e nīnau koke aku i kahi pediatrician me ka ʻole o ka hopohopo pono ʻole.
- Hiki ke pale ʻia nā pilikia he nui ma o ka ʻike mua ʻana a me ka mālama pono ʻana i ka maʻi.
💬 Comments (0)
ʻAʻohe manaʻo i kau ʻia. Hoʻohui i kāu manaʻo ma ʻaneʻi no ka manawa mua.
Hoʻohui i kāu manaʻo