Loaʻa i kāu keiki kēia mau hōʻailona? He Hunter Syndrome paha ia!

Ua ʻike anei ʻoe i kekahi lohi i ka ulu ʻana o kāu keiki liʻiliʻi, a i ʻole kekahi mau loli i ko lākou helehelena a i ʻole nā ​​hono i hala koke aku nei? I kekahi manawa, ʻo ka mea ma hope o kēlā mau mea he maʻi laha ʻole paha a mākou i lohe nui ʻole ai. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi genetic i kapa ʻia ʻo Hunter Syndrome. Mai makaʻu i kou lohe ʻana i kēia, no ka mea, ʻo ka mea nui loa, ʻo ia ka makaʻala iā ia.

He aha ka Hunter Syndrome? E hoʻomaopopo maʻalahi kākou!

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina laha ʻole ka Hunter Syndrome. He kūlana kēia kahi i wāwahi pono ʻole ʻia ai a hoʻoheheʻe ʻia ai kekahi mau mole kō paʻakikī i loko o ke kino o kāu keiki (i kapa ʻia ʻo "Glycosaminoglycans" a i ʻole "GAGs"). E like me ka hōʻiliʻili ʻana o nā ʻōpala i loko o ko mākou mau home inā ʻaʻole mākou e hoʻolei pono iā ia, hōʻiliʻili kēia mau mole kō i loko o nā ʻāpana o ke kino, ʻoi aku hoʻi ma nā ʻāpana i kapa ʻia ʻo "Lysosomes". I ka hala ʻana o ka manawa, hoʻomaka kēia hōʻiliʻili e hōʻino i nā ʻano kino a me nā ʻiʻo like ʻole i loko o ke kino. Hiki i kēia hōʻino ke hoʻopilikia i ka ulu kino a me ka noʻonoʻo o ke keiki.

Ua hoʻokaʻawale nā ​​kauka i ka Hunter Syndrome i ʻelua mau ʻano nui:

1. ʻAno koʻikoʻi: He ʻano koʻikoʻi kēia e holomua wikiwiki ana. I kēia hihia, ua hoʻopilikia ʻia hoʻi nā hiki o ke keiki ke noʻonoʻo. I ka manawa pinepine, ma waena o 6 a me 8 mau makahiki, hoʻomaka ke keiki e paʻakikī i ka hana ʻana i nā hana maʻamau o kēlā me kēia lā. Ma kahi o 60% o ka poʻe me Hunter Syndrome i loaʻa i kēia ʻano koʻikoʻi.

2. ʻAno akahai: Hōʻike mālie iki mai nā hōʻailona. ʻAʻole paha e hoʻopilikia nui ʻia nā mākau noʻonoʻo.

No loko mai o kahi hui nui o nā maʻi i kapa ʻia ʻo "Mucopolysaccharidoses" ka Hunter Syndrome. No laila, ua kapa ʻia hoʻi ʻo "Mucopolysaccharidosis type II" a i ʻole "MPS II".

Pehea ka maʻamau o ka Hunter Syndrome?

He ʻano maʻi laha ʻole kēia. Eia kekahi, pili nui ia i nā keikikāne. Ma ke ʻano helu, hoʻokahi wale nō i loko o 100,000 a 170,000 mau keikikāne i hoʻopilikia ʻia e kēia maʻi. Eia nō naʻe, hiki i nā kaikamahine ke lilo i mea lawe i ka hoʻololi ʻana o ka gene e hoʻoulu ai i kēia maʻi. ʻO ia hoʻi, inā ʻaʻohe o lākou mau hōʻailona, ​​hiki iā lākou ke hoʻoili i ka gene i kā lākou mau keiki.

He aha nā hōʻailona o kahi keiki me ka Hunter Syndrome?

Hoʻomaka pinepine kēia mau hōʻailona e ʻike ʻia i loko o kahi keiki ma waena o 2 a me 4 mau makahiki. Hiki ke ʻokoʻa nā hōʻailona mai kēlā kanaka a kēia kanaka, a hiki nō hoʻi ke ʻokoʻa ko lākou ikaika. E nānā kākou i nā hōʻailona nui e ʻike ʻia:

• ʻOʻoleʻa o nā hono, paʻakikī ke kūlou: Manaʻo paha ia me he mea lā ua "paʻa" nā hono.
• Ka mānoanoa o nā hiʻohiʻona o ka helehelena: ʻO nā wahi e like me ka puka ihu, nā lehelehe, a me ke alelo e lilo i mānoanoa a ʻano ʻino iki.
• Lohi ka ulu ʻana o nā niho a i ʻole he mau hakahaka nui ma waena o nā niho.
• ʻOi aku ka nui o ke poʻo ma mua o ka maʻamau, ʻoi aku ka laulā o ka umauma, a ʻoi aku ka pōkole o ka ʻāʻī.
• Ka nalowale o ka lohe (ka nalowale o ka lohe) e piʻi mālie ana i ka hala ʻana o ka manawa.
• Ka lohi o ka ulu ʻana: Hiki ke lohi ke kiʻekiʻe, ʻoiai ma hope o 5 mau makahiki.
• Ka nui o ka spleen a me ke akepaʻa.
• Ke ʻano o nā puʻupuʻu keʻokeʻo ma ka ʻili.

ʻOi aku ka maikaʻi o ka hopohopo ʻole inā ʻike ʻoe i hoʻokahi a ʻelua paha o kēia mau hōʻailona, ​​​​akā inā hoʻomau kāu keiki i ka loaʻa ʻana o nā hōʻailona he nui ma mua o hoʻokahi, he mea naʻauao ke ʻimi i ka ʻōlelo aʻoaʻo lapaʻau.

No ke aha i loaʻa ai ka Hunter Syndrome? He aha ke kumu?

ʻO ke kumu nui o kēia, he hoʻololi ʻana o ka genetics i loko o ka gene `IDS`. Hoʻomalu kēia gene `IDS` i ka hana ʻana o kahi enzyme i kapa ʻia ʻo `(Iduronate 2-sulfatase)` a i ʻole `(I2S)` i loko o ko kākou kino. ʻO ka hana a kēia enzyme `(I2S)` ʻo ia ka wāwahi ʻana i nā molekole kō paʻakikī i kapa ʻia ʻo `(Glycosaminoglycans)` a i ʻole `(GAGs)` a mākou i kamaʻilio ai ma mua.

No laila, i loko o ke kanaka me ka maʻi Hunter `(MPS II)`, ʻaʻole i hana ʻia kēia enzyme `(I2S)` i loko o ke kino, a i ʻole ua hana ʻia i nā nui liʻiliʻi loa. No ka mea, ʻaʻohe o kēia enzyme, hōʻiliʻili kēlā mau mole kō `(GAGs)` i nā ʻāpana i kapa ʻia ʻo `(Lysosomes)` i loko o nā cell. ʻO `(Lysosomes)` nā wahi i loko o nā cell e wāwahi a hana hou i nā mole pono ʻole. No ka mea, hōʻiliʻili ʻia nā `(GAGs)` ma kēia ʻano, no ka hui o nā maʻi i kapa ʻia ʻo `(Lysosomal storage disorder)` ka maʻi `(MPS II)`. Ma muli o kēia mau hōʻiliʻili ʻana i hōʻino ʻia ai nā ʻano kino a me nā ʻiʻo like ʻole o ke kino.

ʻO wai ka mea i ʻoi aku ka nui o ka pilikia o ka hoʻomohala ʻana i kēia?

Inā loaʻa kēia maʻi i kekahi o ka ʻohana, ʻo ia hoʻi, kekahi mea pili i ke kino, ʻoi aku ka nui o ka pilikia o ka loaʻa ʻana o ia ma kekahi poʻe.

E like me kā mākou i ʻōlelo ai ma mua, ʻoi aku ka nui o ka hiki i nā keikikāne ke hoʻoilina i kēia maʻi. ʻO kēia no ka mea ua pili ka maʻi i ka chromosome X. ʻIke ʻoe, hoʻoilina nā kaikamahine i ʻelua chromosome X, hoʻoilina nā keikikāne i hoʻokahi chromosome X a me hoʻokahi chromosome Y. No laila, inā hoʻoilina ke kaikamahine i ka chromosome X me kēia gene kīnā, hiki i ka chromosome X olakino ʻē aʻe ke hāʻawi i ka enzyme e pono ai. No laila, ʻaʻole paha lākou e hōʻike i nā hōʻailona a lilo i mea lawe. Akā inā hoʻoilina ke keikikāne i ka chromosome X me kēlā gene kīnā, e loaʻa iā ia ka maʻi no ka mea ʻaʻohe ona chromosome X ʻē aʻe.

He aha nā pilikia e hiki ke loaʻa mai ka Hunter Syndrome?

Ma muli o ke koʻikoʻi o kēia maʻi, hiki ke loaʻa nā pilikia like ʻole. Hoʻohana nā kauka i nā lāʻau lapaʻau a i kekahi manawa ʻoki kino e kāohi i kēia mau pilikia. E nānā kākou i ke ʻano o kēia mau pilikia:

• Nā pilikia hanu: Hiki ke paʻakikī ka hanu ʻana ma muli o ka mānoanoa o nā ʻiʻo a me ka pale ʻana o nā alaloa.
• Maʻi puʻuwai (`(Maʻi puʻuwai)`).
• Nā ʻano ʻē i nā hono a me nā iwi.
• Ka emi mālie ʻana o ka hana o ka lolo.
• ʻO ka maʻi tunnel Carpal (`(Carpal tunnel syndrome)`)He kūlana i hoʻokumu ʻia e ke kaomi ʻana o ke aʻalolo ma ka ʻāpana pulima.
• ʻO nā Hernias (`(Hernias)`).
• Nā kūlana e like me ka maʻi epilepsy (`(Seizures)`).
• Nā pilikia o ke ʻano.

ʻAʻole like kēia mau pilikia no nā kānaka a pau. Hiki ke ʻokoʻa ma muli o ke kūlana o ke keiki. No laila, he mea nui e kamaʻilio pinepine me ke kauka a e makaʻala i ke kūlana o ke keiki.

Pehea ʻoe e ʻike ai inā loaʻa iā ʻoe ka Hunter Syndrome?

E hana ke kauka o kāu keiki i kekahi mau hoʻokolohua e hōʻoia inā loaʻa iā ia kēia maʻi.

• Hoʻāʻo mimi: Nānā kēia i nā pae kiʻekiʻe o nā molekala kō i loko o ka mimi (i kapa ʻia ʻo GAGs).
• Nā hoʻāʻo koko: Hiki i kēia ke hoʻoholo inā haʻahaʻa a ʻaʻohe paha ka hana o ka enzyme `(I2S)` i loko o ke koko. He hōʻailona koʻikoʻi nō hoʻi kēia o ka maʻi.
• Ka hoʻāʻo ʻana i ka hoʻoilina: ʻO kēia ka mea e hoʻoholo ai inā he mutation i loko o ka gene IDS kikoʻī.

He aha nā lāʻau lapaʻau no ka Hunter Syndrome?

Hoʻōla ʻia ka Hunter Syndrome e like me nā hōʻailona o ke keiki. Pono kēia i ke kākoʻo o kahi hui o nā loea. Hana pū ka poʻe me ka ʻike loea i nā ʻano like ʻole e hoʻokele i ke kūlana o ke keiki. ʻO nā pahuhopu nui o ka mālama ʻana, ʻo ia ka hoʻolohi i ka holomua o ka maʻi, e ʻike a mālama i nā pilikia e kū mai ana ma muli o ka maʻi i ka wā mua, a e hoʻomaikaʻi i ke ʻano o ke ola o ke keiki.

ʻO ka lāʻau lapaʻau maikaʻi loa i loaʻa i kēia manawa no ka hoʻokō ʻana i kēia mau pahuhopu, ʻo ia ka enzyme replacement therapy (`(Enzyme replacement therapy)`). Ma kēia, ua pani ʻia ka enzyme `(I2S)` i nalowale e kahi enzyme i hana ʻia e ke kanaka (`(Idursulfase (Elaprase®))`). Hāʻawi pinepine ʻia kēia lāʻau lapaʻau ma ke ʻano intravenous i hoʻokahi manawa i ka pule.

Eia kekahi, ke hana ʻia nei ka noiʻi ʻana i ka gene therapy (a i ʻole ka hoʻoponopono ʻana i ka gene). Hiki i kēia ke lawe mai i ka manaʻolana nui i nā poʻe maʻi me Hunter Syndrome i ka wā e hiki mai ana. Eia nō naʻe, ke kali ʻia nei nā hopena.

Aia kekahi ala e pale aku ai i kēia?

ʻOiai he maʻi hoʻoilina kēia, ʻaʻole hiki ke pale ʻia. Eia nō naʻe, he mea nui loa i nā mākua o kahi keiki me Hunter Syndrome ke kamaʻilio me kahi kākāʻōlelo hoʻoilina ma mua o ka loaʻa ʻana o kahi keiki ʻē aʻe. Hiki i kēia loea ke kōkua i nā mākua e hoʻomaopopo i ka pilikia o ka hoʻoili ʻana i ke kūlana i kahi keiki ʻē aʻe.

He aha ka wā e hiki mai ana no kekahi me ka Hunter Syndrome?

ʻAʻole i loaʻa kahi lāʻau lapaʻau piha no kēia.Hiki i nā hihia koʻikoʻi o ka maʻi ke hoʻoweliweli i ke ola. ʻO ka awelika o ke ola no ia mau keiki ma waena o 10 a me 20 mau makahiki. Eia nō naʻe, hiki i ka poʻe me nā hihia akahai o ka maʻi ke ola lōʻihi a hiki i ka wā makua.

No nā kānaka he nui, hiki i nā lāʻau lapaʻau e like me ka lāʻau lapaʻau, ka hoʻoikaika kino, a me ke ʻoki kino ke kōkua i ka hoʻokele ʻana i nā pilikia o ka maʻi a hoʻomaikaʻi i ko lākou ola.

E hiki anei i kaʻu keiki ke hana hou ma ke ʻano maʻamau?

Hiki i nā keiki me ka Hunter Syndrome ke loaʻa i ka pilikia me nā hana o kēlā me kēia lā a me ka neʻe ʻana i ka wā e ʻoi mālie ai ko lākou mau hōʻailona. Pono paha e hoʻololi ʻia kekahi mau hana. E kamaʻilio ke kauka o kāu keiki me ʻoe e pili ana i nā hana a me nā lāʻau lapaʻau e hiki ke kōkua iā ʻoe e hoʻomanawanui i nā hōʻailona.

I ka manawa hea ʻoe e pono ai e ʻike i ke kauka?

Inā hoʻomaka kāu keiki e hōʻike i nā hōʻailona o ka Hunter Syndrome, a inā ʻike ʻoe i nā lohi o ka ulu ʻana, e kelepona koke aku i ke kauka o kāu keiki. ʻO ka hoʻomaka mua ʻana i ka lāʻau lapaʻau e hiki ke kōkua i ka pale ʻana i ka hōʻino mau loa i nā ʻōpū a me nā ʻiʻo.

He aha kāu e nīnau ai i ke kauka?

Ke ʻike ʻoe ua loaʻa i kāu keiki ka Hunter Syndrome, hiki iā ʻoe ke nīnau i ke kauka i nā nīnau penei:

• Pehea ke koʻikoʻi o ka Hunter Syndrome?
• He aha ka wānana pōkole a me ka wā lōʻihi no kaʻu keiki?
• Pehea lā e pili ai kēia maʻi i ke ola o kaʻu keiki?
• He aha nā koho lapaʻau?

E nīnau i kēia mau nīnau a e hoʻomālamalama i nā kānalua āu e loaʻa ai. No ka mea, ʻo ka ʻoi aku o kou ʻike, ʻoi aku ka maikaʻi o kou hiki ke kōkua i kāu keiki.

He aha ka ʻokoʻa ma waena o ka maʻi Hunter a me Hurler?

ʻO Hunter Syndrome a me Hurler Syndrome ʻelua mau maʻi i loko o ka hui o nā maʻi i kapa ʻia ʻo "Lysosomal storage disorders", "Mucopolysaccharidoses".

ʻO ka maʻi Hurler ke ʻano koʻikoʻi loa o ka maʻi Mucopolysaccharidosis type I (MPS I). Ma MPS I, nele ka enzyme alpha-L-iduronidase. ʻOi aku ka koʻikoʻi o ka maʻi Hurler ma mua o ka maʻi Hunter.

He leka lawe i ka home

Maopopo iaʻu ke paʻakikī o ka ʻike ʻana he maʻi ko kāu keiki e like me ka Hunter Syndrome. Hiki ke kaumaha, ʻoiai ke lohe ʻoe e pili ana i ke ola o kāu keiki. I loko o kēia manawa paʻakikī, e hoʻomanaʻo ʻaʻole ʻoe hoʻokahi.

ʻO ka mea nui loa, ʻo ia ke hana pū me nā kauka o kāu keiki e aʻo i ka mea hiki e pili ana i ka maʻi a me kona lāʻau. Eia kekahi, e hoʻopuni iā ​​ʻoe iho me nā poʻe kākoʻo, e like me kou mau hoaaloha a me kou ʻohana. ʻO kā lākou kākoʻo a me ka hōʻoluʻolu e lilo i kumu ikaika nui i kēia manawa. E hoʻomanaʻo, me kēlā me kēia pilikia, aia ka manaʻolana.

ʻO ka Hunter Syndrome, Hunter Syndrome, MPS II, Nā Maʻi Genetic, Nā Enzymes, Nā Maʻi Pediatric, Nā Hōʻailona, ​​​​Lāʻau Lapaʻau