ʻAʻole hiki i kou kino ke mālama pono a hoʻohana i ka glucose? E kamaʻilio kākou e pili ana i ka maʻi mālama Glycogen (GSD)!

Ke luhi mau nei ʻoe a i ʻole kāu keiki? A i ʻole ke anu koke nei ʻoe i kekahi manawa, ka hou, a me ka poniuniu? Luhi koke ʻoe i ka wā e hele ana a pāʻani paha? I kekahi manawa hiki ke kumu o kēia mau mea i kahi pilikia liʻiliʻi i ke ʻano o ko mākou kino e kāohi ai i ka ikehu, ʻo ia hoʻi, ke ʻano o ka hoʻohana ʻana i ke kō. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi laha ʻole e pono ai i nā mea a pau ke makaʻala. ʻO ia ka maʻi mālama glycogen , kahi i ʻike ʻia hoʻi i waena o nā kauka ʻo `(Glycogen Storage Disease)` a i ʻole `(GSD)` no ka pōkole.

I ka ʻōlelo maʻalahi, he aha ke ʻano o kēia "(GSD)"?

ʻAe, e nānā kākou i kēia `(GSD)`. I ka ʻōlelo maʻalahi, he kūlana ia kahi hiki ʻole i ko mākou kino ke hoʻohana pono a mālama paha i ka glycogen . He ʻano maʻi metabolic kēia i hoʻoilina ʻia, ʻo ia hoʻi, ua hoʻoili ʻia mai ka makua a i ke keiki.

I kēia manawa, ke noʻonoʻo nei paha ʻoe i ke ʻano o ka glycogen. ʻO Glycogen kahi ala no ko mākou kino e mālama i ka glucose, a i ʻole ke kō, mai ka meaʻai a mākou e ʻai ai. E like me kou ʻike, ʻo ka glucose ka wahie nui e hāʻawi ai i ko mākou kino i ka ikehu. Loaʻa iā mākou kēia glucose mai nā meaʻai a mākou e ʻai ai i loaʻa nā kalapona. ʻAʻole pono ke kino i kēia glucose a pau i ka manawa hoʻokahi. No laila, mālama ke kino i kēia glucose keu i loko o ke akepaʻa a me nā ʻiʻo ma ke ʻano he glycogen. Hiki ke hoʻohana ʻia ma hope aku ke pono mākou i ka ikehu.

ʻO ke kaʻina hana e hana ai ko kākou kino i ka glycogen mai ka glucose ua kapa ʻia ʻo glycogenesis . Pēlā nō, ke pono hou ke kino i ka ikehu, ʻo ke kaʻina hana e wāwahi ʻia ai kēia glycogen i mālama ʻia a hoʻihoʻi ʻia i glucose ua kapa ʻia ʻo glycogenolysis . Kōkua nā ʻano enzyme like ʻole i kēia mau kaʻina hana ʻelua.

ʻO ka maʻi mālama glycogen (GSD) ke loaʻa ka wā e nalowale ana kekahi a ʻoi aku paha o kēia mau enzymes a i ʻole ʻaʻole hana pono. ʻO ia hoʻi, ʻaʻole hiki i ke kino ke hoʻohana i ka glycogen i mālama ʻia no ka ikehu a mālama pono paha i nā pae kō koko. Hiki i kēia ke alakaʻi i nā pilikia he nui, me nā pae kō koko haʻahaʻa pinepine (hypoglycemia) , ka hōʻino ʻana o ke ake, a me ka nāwaliwali o nā ʻiʻo.

Aia kekahi mau ʻano like ʻole o ka `(GSD)`?

ʻAe, no ka mea, hoʻohana ko mākou kino i nā enzymes like ʻole e hana i ka glycogen, aia nā ʻano GSD like ʻole - ma ka liʻiliʻi he 19! ʻIke nui nā kauka e pili ana i kekahi mau ʻano, akā ke aʻo nei lākou e pili ana i nā mea ʻē aʻe. Hoʻopilikia nui ka GSD i kou akepaʻa a i ʻole nā ​​​​ʻiʻo. Akā hiki i kekahi mau ʻano ke hana i nā pilikia ma nā ʻāpana ʻē aʻe o kou kino.

Hoʻokumu ʻia kēlā me kēia ʻano GSD e ka nele o kahi enzyme kikoʻī e pili ana i ka mālama ʻana a i ʻole ka haki ʻana o ka glycogen. ʻO ke ʻano kēia ua nalowale ka enzyme a i ʻole i ka nui i hoʻemi ʻia. I kekahi manawa kapa nā kauka i kēia mau ʻano ma hope o ka inoa o ka enzyme nalowale a i ʻole ka mea ʻepekema nāna i ʻike mua i ka GSD.

Pehea ka maʻamau o ka maʻi mālama glycogen?

ʻO ka ʻoiaʻiʻo, he maʻi laha ʻole ka maʻi mālama glycogen. ʻO ke ʻano I (GSD) ʻano I (maʻi von Gierke)), ʻo ia ke ʻano maʻamau, loaʻa i hoʻokahi ma 100,000 mau hānau ʻana. No laila hiki iā ʻoe ke ʻike i ka laha ʻole o kēia.

He aha nā hōʻailona o GSD?

Hiki ke ʻokoʻa nā hōʻailona o ka GSD mai kēlā kanaka a kēia kanaka. ʻO ke ʻano kēia, hiki i nā kānaka ʻelua me ke ʻano like o ka GSD ke loaʻa nā hōʻailona like ʻole. Hoʻomaka ka GSD Type I (ke ʻano maʻamau) e hōʻike i nā hōʻailona i ka wā he ʻekolu a ʻehā mahina ka pēpē . Eia nō naʻe, hiki i kekahi o nā ʻano ʻē aʻe ke hōʻike i nā hōʻailona ma hope, i kekahi manawa i ka wā ʻōpio.

ʻO nā hōʻailona nui ʻelua i ʻike ʻia ma kēia ʻano he haʻahaʻa ke kō koko (hypoglycemia) a/a i ʻole ka luhi i ka wā o ka hoʻoikaika kino, e like me ka holo ʻana a i ʻole ka lele ʻana (hoʻomaʻamaʻa ʻole i ka hoʻoikaika kino).

ʻO ke kō koko haʻahaʻa (hypoglycemia) ʻo ia ka wā e hāʻule ai kou pae glucose koko ma lalo o 70 mg/dL. Ke hana ʻia kēia, hiki iā ʻoe ke ʻike i nā hōʻailona e like me:

• Manaʻo e haʻalulu ana kou kino.
• Ke hou nei a ke anu nei.
• Pōniuniu , he manaʻo e wili ana ke poʻo.
• Manaʻo nāwaliwali a makeʻe.
• Nā palpitations o ka puʻuwai .
• I kekahi manawa, loaʻa ka pōloli hiki ʻole ke hoʻomanawanui, a kapa kekahi poʻe i kēia "hyperphagia".
• Ka paʻakikī o ka noʻonoʻo ʻana, ka hiki ʻole ke noʻonoʻo pono.
• Ka manaʻo hopohopo a me ka huhū.
• Ke keʻokeʻo o ka ʻili (pallor).
• I kekahi manawa, inā hāʻule haʻahaʻa loa ke kiʻekiʻe o ke kō koko , hiki ke loaʻa nā maʻi hoʻoulu.

E noʻonoʻo inā e pāʻani maikaʻi ana kāu keiki liʻiliʻi a hoʻomaka koke e haʻalulu, e hou ana, a ʻaʻole hiki ke ʻōlelo? Pehea kou weliweli i kēlā manawa? ʻO ia ke ʻano o ka hypoglycemia .

Ma waho aʻe o kēia, hiki ke ʻike ʻia nā hiʻohiʻona ʻē aʻe e like me `(GSD)`:

• ʻEhaʻeha nā ʻiʻo a i ʻole ka nāwaliwali o nā ʻiʻo.
• Ulu lohi a me ka piʻi kaumaha maikaʻi ʻole i nā keiki.
• Ka hoʻonui ʻia ʻana o ke akepaʻa (hepatomegaly).
• Leo ʻiʻo haʻahaʻa.
• Hoʻonui ʻia ka cholesterol i loko o ke koko (hyperlipidemia).

He aha ke kumu o GSD?

ʻO ke kumu nui o ka GSD, ʻo ia nā hoʻololi hoʻoilina i hoʻoilina ʻia . Hoʻopilikia kēia mau hoʻololi hoʻoilina i ka hana o nā enzymes e pono ai e mālama a hoʻohana i ka glycogen. Hoʻoilina ke keiki i kēia mau hoʻololi hoʻoilina mai ko lākou makuahine a me ko lākou makuakāne.

Loaʻa i ka hapa nui o nā GSD kahi ʻano hoʻoilina autosomal recessive. ʻO ke ʻano kēia, no ke keiki e loaʻa ai ke kūlana, pono e hoʻoilina ʻia ke ʻano genetic mai ka makuahine a me ka makuakāne.

Eia nō naʻe, aia kekahi mau ʻano, e like me ka GSD Group IX, he hoʻoilina X-linked . ʻO ke ʻano kēia, aia ka mutation genetic ma kāu chromosome X. Inā loaʻa i kahi kāne (hoʻokahi wale nō chromosome X) kēia mutation, e loaʻa iā ia ka maʻi. Inā loaʻa i kahi wahine kēia mutation ma kekahi chromosome X a olakino kekahi chromosome X, ʻaʻole ʻo ia e hōʻike i nā hōʻailona, ​​​​akā he mea lawe paha ʻo ia i ka maʻi.

Pehea e ʻike ai inā loaʻa iaʻu ka `(GSD)`?

I mea e ʻike pono ai inā loaʻa i kāu keiki ka GSD, e kauoha paha ke kauka o kāu keiki i kekahi mau hoʻokolohua. No ka mea he maʻi kakaikahi ka GSD, hiki ke lōʻihi ka manawa e kāpae ai i nā maʻi ʻē aʻe a ʻike pono i ke ʻano o ka GSD i loaʻa iā lākou. Hiki i kēia mau hoʻokolohua ke komo pū me:

• Hoʻāʻo kō koko hoʻokē ʻai: Inā haʻahaʻa kou pae kō koko ma hope o kou ʻai ʻole ʻana i kekahi mea i ke kakahiaka, he hōʻailona paha ia o GSD.
• Hoʻāʻo koko Ketone: Ke hiki ʻole i ke kino ke hoʻohana i ka glucose, puhi ia i ka momona no ka ikehu. Hoʻopuka kēia i nā mea i kapa ʻia he ketones. ʻIke pinepine nā keiki me GSD i kahi kūlana o ketosis (hoʻonui ʻia nā ketones i loko o ke koko).
• Panel metabolic kumu: Hiki i kēia ke hāʻawi i kahi manaʻo o ke olakino holoʻokoʻa o ke keiki.
• Panel lipid: He mea nui hoʻi kēia no ka mea he mea maʻamau ka cholesterol kiʻekiʻe (hyperlipidemia) i ka GSD.
• Nā hoʻāʻo hana ate: Hiki i kēia ke nānā i ke olakino o ke ake o kāu keiki. Inā he mau mea ʻē aʻe, he hōʻailona paha ia o GSD.
• Urinalysis: Hiki i ka Urinalysis ke nānā i nā pae creatinine (e hōʻike ana i ka hana o nā puʻupaʻa) a me nā pae uric acid. Hōʻike pinepine ka GSD i nā pae uric acid kiʻekiʻe (hyperuricemia) .
• ʻO ke kani ultrasound o ka ʻōpū: Hiki i kēia ke nānā inā ua hoʻonui ʻia ke akepaʻa o ke keiki.
• Ka hoʻāʻo ʻana i ka hoʻoilina: Nānā kēia i nā pilikia me nā hoʻoilina e pili ana i nā ʻano enzyme like ʻole.

ʻOiai aia nā hoʻokolohua genetic kikoʻī e ʻike ai i nā ʻano GSD he nui, i kekahi manawa e ʻōlelo paha ke kauka o kāu keiki i kahi biopsy , ʻo ia hoʻi ka lawe ʻana i kahi ʻāpana liʻiliʻi o ka ʻiʻo mai ke akepaʻa a i ʻole ka ʻiʻo, e hōʻoia i ka hōʻailona.

Pehea e mālama ʻia ai ka GSD?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka maʻi mālama glycogen. ʻO ke kumu nui o ka lāʻau lapaʻau ʻana ka kaohi ʻana i nā hōʻailona. ʻOkoʻa nā koho lapaʻau ma muli o ke ʻano o GSD āu e loaʻa ai. Eia kekahi mau laʻana o nā koho lapaʻau:

• Ke pale ʻana i ke kō koko haʻahaʻa: ʻO ka hāʻawi ʻana i ka palaoa maka ʻole a i ʻole kahi mea hoʻohui meaʻai like i ka manawa kūpono a me ka nui kūpono e hiki ke kōkua i ka mālama ʻana i nā pae kō koko paʻa. ʻO ka palaoa cornstarch kahi carbohydrate paʻakikī iki i ke kino e ʻeli. No laila, hiki iā ia ke kaohi i nā pae kō koko no kahi manawa lōʻihi ma mua o nā carbohydrates i loaʻa i nā meaʻai maʻamau. I kēia manawa aia kahi huahana kalepa ʻoi aku ka maikaʻi e noho lōʻihi i loko o ke kino. E hoʻopau pū kēia i ka pono e ala i waenakonu o ka pō e hānai i kāu ʻīlio.
• Ka mālama ʻana i ke kō koko haʻahaʻa: Inā hāʻule kou kō koko ma muli o GSD , pono ʻoe e mālama koke iā ia me nā kalapona. A i ʻole, hiki i ka hypoglycemia ke hoʻonui aʻe a alakaʻi i nā pilikia e like me ka hopu ʻana a me ka coma.
• Ke kāohi nei i ka cholesterol kiʻekiʻe: ʻO kahi papa o nā lāʻau i kapa ʻia ʻo statins e kōkua i ka kaohi ʻana i nā pae cholesterol.
• Ke kaohi ʻana i nā pae uric acid kiʻekiʻe: Kōkua ka lāʻau allopurinol i ka hōʻemi ʻana i ka hana ʻana o ka uric acid i loko o ke kino.

Hiki ke mālama ʻia kekahi mau ʻano GSD (no ka laʻana, GSD ʻano II) me ka enzyme replacement therapy (ERT) . Hāʻawi pinepine ʻia kēia ma ke ʻano he IV infusion. Ke hoʻomau nei ka noiʻi e ʻike inā hiki ke hoʻohana ʻia ka ERT no nā ʻano GSD ʻē aʻe.

Inā ua hōʻino nui ʻia ke akepaʻa ma muli o GSD, pono paha kahi hoʻoili akepaʻa .

Hiki ke pale ʻia ka maʻi mālama glycogen?

ʻOiai ʻo nā maʻi mālama glycogen he mau maʻi genetic (hoʻoilina), ʻaʻohe mea hiki iā mākou ke hana e pale aku ai iā lākou.

Inā loaʻa i kekahi o kou ʻohana ka GSD, a ke noʻonoʻo nei ʻoe e loaʻa kahi keiki, he mea maikaʻi e ʻimi i ka ʻōlelo aʻoaʻo genetic e ʻike ai inā he mea lawe pū ʻoe i kēia ʻano genetic.

He aha ke kūlana olakino o kekahi me ka `(GSD)`?

I ka hapa nui o nā ʻano GSD, hiki i ka ʻike mua ʻana a me ka hoʻokele kūpono ke hoʻomaikaʻi i ka prognosis o ka mea maʻi. Eia nō naʻe, ʻoi aku ka paʻakikī o ka hoʻokele ʻana i kekahi mau ʻano GSD. Hiki i kāu kauka ke hāʻawi iā ʻoe i kahi manaʻo maikaʻi aʻe o ka mea e manaʻo ai.

He aha nā pilikia e hiki ke loaʻa mai ka GSD?

Hiki i ka GSD ke hana i nā ʻano pilikia like ʻole. Aia ia ma luna o:

• Ma ke ʻano `(GSD)`.
• Inā ua lohi ka ʻike ʻana i ka maʻi.
• Inā ʻaʻole mālama pono ʻia ka maʻi, e hoʻomau nō ia.

Eia kekahi laʻana, ʻo kekahi o nā pilikia e hiki ke kū mai ma muli o ka ʻāpana I i mālama ʻole ʻia ʻo "(GSD)":

• Ka emi ʻana o ka nui o ka iwi, ka haki maʻalahi, a me ka osteoporosis .
• Ka lohi o ka wā ʻōpiopio.
• ʻO ka ʻōpū.
• Maʻi puʻupaʻa.
• Ke koko kiʻekiʻe o ka puʻuwai.
• Nā puʻupuʻu ʻaʻole maʻi kanesa o ke akepaʻa (adenomas hepatic).
• Nā wahine me ka maʻi polycystic ovary (PCOS).
• Ka mumū o ka pancreas (Pancreatitis).
• Hiki i nā pae koko haʻahaʻa pinepine ke hoʻopilikia i ka hana o ka lolo.

He aha ke ola o ke kanaka me ka `(GSD)`?

ʻOkoʻa ke ola o kekahi me ka maʻi mālama glycogen (GSD) ma muli o ke ʻano, pehea ka wā mua o ka ʻike ʻia ʻana o ka maʻi, a pehea ka maikaʻi o ka mālama ʻana. Hiki i kekahi mau ʻano ke make i ka wā kamaliʻi, aʻo kekahi e hiki ke alakaʻi i kahi ola maʻamau. Hiki i kāu kauka ke hāʻawi iā ʻoe i ka ʻōlelo aʻoaʻo maikaʻi loa no kēia.

Āhea wau e ʻike ai i ke kauka?

Inā ʻike ʻoe a i ʻole kāu keiki i ka nāwaliwali o nā ʻiʻo a i ʻole nā ​​​​hōʻailona mau o ke kō koko haʻahaʻa, e ʻike koke i ke kauka.

He mau maʻi laha ʻole a paʻakikī hoʻi nā maʻi mālama glycogen. No laila, inā hiki, ʻoi aku ka maikaʻi o ka loaʻa ʻana o ke kauka i ʻike i kēia maʻi a pehea e mālama ai. E hele pū ana ka hui lapaʻau o kāu keiki me ʻoe i kēlā me kēia ʻanuʻu e kōkua iā ʻoe e hoʻoholo i ka lāʻau maikaʻi loa no lākou.

Leka Lawe-Home:

No laila, ke lana nei koʻu manaʻo ua ʻike maikaʻi ʻoe i ka mea a mākou i kamaʻilio ai, ʻo ia hoʻi ka maʻi mālama Glycogen (GSD). ʻOiai he kumuhana paʻakikī kēia, he mea nui loa ia e hoʻomanaʻo i nā kumu nui.

E hoʻomanaʻo: ʻO ka GSD kahi hui o nā maʻi laha ʻole, i hoʻoilina ʻia e hoʻohana pono ʻole ai ke kino i ka glycogen (ka waihona kō o ko mākou kino).

• Nā hōʻailona nui: Haʻahaʻa pinepine ke kō koko (hypoglycemia) a me ka luhi wikiwiki i ka wā hoʻoikaika kino.
• Kumu: Nā hemahema o ka enzyme i hoʻokumu ʻia e nā loli genetic.
• ʻIkepili: Nā hoʻāʻo koko, nā hoʻāʻo mimi, ultrasound, nā hoʻāʻo genetic, a me kahi biopsy paha.
• Lapaʻau: ʻO ke kāohi ʻana i nā hōʻailona ke kumu nui. ʻO ka ʻai (ʻoi aku ka cornstarch), ka lāʻau lapaʻau inā pono, a me ka enzyme replacement therapy (ERT) no kekahi mau ʻano.
• ʻO ka mea nui loa: ʻO ka ʻike mua ʻana a me ka hoʻokele kūpono e hiki ke kōkua iā ʻoe e ola i kahi ola maʻamau. Inā loaʻa iā ʻoe nā hōʻailona, ​​​​mai hoʻokaʻulua i ka ʻimi ʻana i ke aʻo lapaʻau.

Lana ko mākou manaʻo he mea pono kēia ʻike iā ʻoe. E noho olakino!