He mea paʻakikī ke hōʻike i ke kaumaha a me ka hopohopo o ka makuahine a makua paha i ka wā e maʻi ai kā lāua keiki liʻiliʻi, ʻeā? ʻOiai inā he maʻi kakaʻikahi a paʻakikī hoʻi, ʻoi aku ka nui o ke kaumaha. I kēia lā e kamaʻilio mākou e pili ana i kekahi maʻi kakaʻikahi akā koʻikoʻi. Ua kapa ʻia kēia he maʻi Krabbe. Ua kapa ʻia kekahi poʻe ʻo Globoid Cell Leukodystrophy. ʻOiai paha he lōʻihi iki ka inoa, e mālama kākou i ka maʻalahi.
He aha ka maʻi Krabbe?
I ka ʻōlelo maʻalahi, he maʻi laha ʻole ka maʻi Krabbe e hoʻopilikia ana i ka ʻōnaehana nerve. Ua puana ʻia ʻo "kra-bah."
No loko kēia maʻi o kahi hui o nā maʻi i kapa ʻia ʻo Leukodystrophies. I loko o kēia mau maʻi , ua nalowale ka uhi pale i kapa ʻia ʻo Myelin i loko o kā mākou ʻōnaehana nerve (ua kapa ʻia kēia ʻo Demyelination). E noʻonoʻo i nā hunaola nerve i loko o ko mākou kino e like me nā uea uila. Aia kahi uhi pale a puni kēia mau uea, e like me kahi ʻūpā plastik ma luna o ka uea. ʻO ia ka mea i kapa ʻia ʻo Myelin. ʻO kēia ʻūpā myelin ka mea e hiki ai i nā leka nerve ke hele wikiwiki a pololei. I ka maʻi Krabbe, ua hōʻino ʻia kēia ʻūpā myelin.
Eia kekahi, i loko o kēia maʻi, hiki ke ʻike ʻia kahi ʻano ʻano ʻē o ke kelepona i loko o ka lolo i kapa ʻia he mau kelepona globoid. He mau kelepona nui kēia i loaʻa pinepine ma mua o hoʻokahi nucleus.
I ka wā e luku ʻia ai ka ʻūpā myelin, hoʻomaka ka make ʻana o nā hunaola o ka lolo. Hoʻoulu mālie kēia i nā pilikia e hoʻopilikia ai i ka hana o ka ʻōnaehana nerve. Eia kekahi laʻana:
- Ke kīnā noʻonoʻo
- Ka maʻi lolo
- Poho a kuli paha ka lohe
He maʻi degenerative ka maʻi Krabbe e ʻoi mālie ana ka ʻino i ka hala ʻana o ka manawa. ʻO ka mea kaumaha, pinepine ia i ka make.
Ua kapa ʻia ka maʻi ma hope o Knud Krabbe, he neurologist Denemaka.
ʻO wai ka mea i hoʻopilikia nui ʻia e ka maʻi Krabbe?
Ma kahi o 90% o ka poʻe me ka maʻi Krabbe e hoʻomaka ana e hoʻomohala i nā hōʻailona ma waena o nā makahiki 1 a me 7 mahina. Ua kapa ʻia kēia ʻo ke ʻano pēpē o ka maʻi Krabbe. I kekahi manawa, hiki ke hoʻomaka ka maʻi ma hope o 18 mau mahina, i ka wā ʻōpio a i ʻole ka wā makua. Ua kapa ʻia kēia ʻo ke ʻano hoʻomaka hope o ka maʻi Krabbe.
ʻO ka mea nui loa, ʻo ka maʻi Krabbe kahi maʻi i hoʻoilina ʻia mai nā mākua a i nā keiki ma o nā genes.
Pehea ka maʻamau o kēia maʻi?
He maʻi laha ʻole ka maʻi Krabbe. Eia nō naʻe, ʻokoʻa ka pinepine o kona hiki ʻana mai ma nā wahi like ʻole o ka honua. Wahi a nā kānaka noiʻi, hiki i ka maʻi ke loaʻa ma kahi o hoʻokahi i loko o 100,000 mau hānau ola ma ʻEulopa a hoʻokahi i loko o 250,000 mau hānau ola ma ʻAmelika Hui Pū ʻIa.
Eia nō naʻe, ʻoi aku ka maʻamau o ka maʻi ma kekahi mau kaiāulu kaʻawale ma ʻIseraʻela, me kahi hanana o 6 no 1,000 kānaka.
He aha nā hōʻailona o ka maʻi Krabbe?
ʻO ke koʻikoʻi o nā hōʻailona o ka maʻi Krabbe e pili ana i ka makahiki e hoʻomaka ai nā hōʻailona. Hoʻonui koke ke ʻano pēpē o ka maʻi Krabbe a he mea make ma mua o 2 mau makahiki. ʻOi aku ka maʻalahi o ke ʻano hope o ka maʻi Krabbe, a ʻoi aku ka lōʻihi o ke ola.
Nā hōʻailona o ka maʻi Infantile Krabbe
Hiki ke ʻike ʻia nā hōʻailona o ka maʻi Krabbe i ka wā kamaliʻi i ʻekolu mau pae nui:
Pae 1:
ʻO ka maʻamau, ulu maikaʻi a ulu maikaʻi kahi pēpē me ka maʻi Krabbe a hiki i ka 4 a 6 mau mahina. ʻO ia ka manawa e hoʻomaka ai nā hōʻailona. ʻO kēia mau mea:
- Hoʻomaha pinepine ʻole, huhū
- Ka luaʻi ʻana
- Ka paʻakikī o ka inu ʻana i ka waiū
- Ka Holo ʻole ʻana
- Nā kuni pinepine me ka ʻole o nā hōʻailona o ka maʻi
- Nāwaliwali o nā ʻiʻo
Hiki i kahi pēpē me ka maʻi Krabbe ke lilo i mea ʻoi aku ka naʻau i ka pā ʻana, ke kani, a me ka mālamalama. Ke hiki mai kēlā ʻano hoʻoulu, hiki i ke kino ke ʻike i kahi manaʻo ʻoʻoleʻa (Tonic Spasms). E noʻonoʻo, e pūʻiwa a ʻoʻoleʻa kahi pēpē i ke kani iki.
Pae 2:
I ka lua o ka hoʻokolohua, hiki iā ʻoe ke ʻike i nā hōʻailona e like me:
- Nā loli o ka ʻike
- ʻO ka Atrophy Optic - ʻO ke ʻano kēia ka nāwaliwali o ke aʻalolo optic.
- Kūlana ʻAno ʻĒ - ʻO ka paʻa ʻana o nā ʻiʻo o ka ʻāʻī, ke kino, a me nā wāwae hiki ke alakaʻi i kahi kūlana e kūlou ana i hope mai ka ʻāʻī a i nā kuʻekuʻe wāwae (Opisthotonic Posturing). Ua like ia me ke kūlou ʻana i hope e like me ke kakaka.
- Nā kūlana e like me ka hopu ʻana
- Ka lohi o ka ulu ʻana o ka noʻonoʻo a me ke kino
- ʻO ka hiki ʻole ke hana hou i nā mea i aʻo mua ʻia (e like me ka minoʻaka, ke kau ʻana i kou poʻo i luna).
Pae 3:
I ke kolu o ka pae, ʻike ʻia kēia mau hōʻailona:
- Poho piha o ka ʻike (makapō)
- Ka nalowale piha ʻana o ka lohe (kuli)
- He kūlana kino ʻē aʻe - he kūlana e pololei ai nā lima a me nā wāwae, kuhikuhi ʻia nā manamana lima i lalo, a huki ʻia ke poʻo a me ka ʻāʻī i hope (descerebrate posturing)
- Ka emi ʻana o ka hiki ke neʻe a puni.
ʻO ka heluhelu ʻana i kēia mau kikoʻī e hoʻomāʻehaʻeha paha iā ʻoe a e makaʻu hoʻi. Akā, he mea nui loa ka ʻike ʻana i kēia mau mea no ka ʻike mua ʻana a me ka loaʻa ʻana o ke kōkua āu e pono ai.
Nā Hōʻailona o ka Maʻi Krabbe Hoʻomaka Late
Hoʻomaka ka maʻi Krabbe o nā keiki hānau hope ma waena o nā makahiki 13 a me 36 mau mahina. E ʻike mālie ʻia nā hōʻailona penei:
- Hoʻonāukiuki
- Nā loli o ka ʻike
- He hele ʻano ʻē
- Nā hopu ʻana
- Nā Mokuna Apneic
- Ka paʻa ʻole o ka mahana o ke kino
I kēia hihia, ʻo ka awelika o ka makahiki o ka make ma kahi o ʻeono mau makahiki.
ʻO nā hōʻailona o ka maʻi Krabbe Juvenile-Onset :
- Nā loli o ka ʻike
- Nā haʻalulu
- Nā ʻano ʻē o ke hele ʻana
- ʻAʻole hiki ke hoʻomalu i nā neʻe e like me ka makemake a me ka paʻakikī o nā ʻiʻo
- Ka maʻi hoʻolohe-nele/hyperactivity (ADHD)
ʻOkoʻa ka wikiwiki o ka hoʻonui ʻia ʻana o kēia ʻano maʻi Krabbe, akā ʻo ka maʻamau, hiki ke make i loko o 10 mau makahiki o ka hōʻoia ʻana.
Nā hōʻailona o ka maʻi Krabbe lohi :
- Ke kuni ʻana i nā lima a me nā wāwae
- Nā loli i ke ʻano a me ke ʻano
- Ke kūpikipikiʻō nei i ka wā e hele ana, ka nalowale o ke kaulike `(Ataxia)`
- ʻOʻoleʻa o nā ʻiʻo (Spasticity)
- Nā loli o ka ʻike a me ka makapō
- Ka haʻalulu
- Ka hemahema o ka lohe a me ke kuli
He nui ka poʻe i loaʻa i ka maʻi Krabbe i ka wā makua e lilo i nāwaliwali noʻonoʻo a me ke kino.
He aha ke kumu o ka maʻi Krabbe?
ʻO ka maʻi Krabbe kahi maʻi i hoʻoili ʻia mai nā mākua a i nā keiki ma o kahi gene. Hoʻoilina ʻia ia ma ke ʻano autosomal recessive. ʻO ke ʻano kēia, pono e loaʻa nā mutations i nā kope ʻelua o ka gene i loko o kēlā me kēia o nā cell o ke keiki. Loaʻa i ke kanaka me kēia maʻi hoʻokahi kope o ka gene mutated i loko o kēlā me kēia o ko lākou mau mākua. Eia naʻe, ʻaʻole hōʻike pinepine nā mākua i nā hōʻailona. He mau mea lawe wale lākou o ka maʻi.
Hoʻokumu ʻia ka maʻi Krabbe e nā mutations i loko o ka gene `GALC`. ʻO ka hopena , ʻaʻole hana ke kino i kahi enzyme i kapa ʻia ʻo `Galactocerebrosidase`. He mea nui kēia enzyme no ko mākou kino e hoʻopili i kahi hui i kapa ʻia ʻo `Galactocerebroside`. He ʻāpana koʻikoʻi kēia galactocerebroside o ka myelin (ka uhi pale a puni nā aʻalolo).
Ke nalowale kēia enzyme koʻikoʻi, e haki ka ʻūpā myelin ma loko o ka ʻōnaehana nerve waena (demyelination). ʻO kēia ke kumu o nā hōʻailona neurological o ka maʻi Krabbe.
Pehea e ʻike ʻia ai ka maʻi Krabbe?
Ma kekahi mau mokuʻāina ma ʻAmelika Hui Pū ʻIa, ua hoʻokomo ʻia kahi hoʻāʻo no ka maʻi Krabbe i loko o ke kaʻina hana nānā hou ʻana i nā keiki hānau hou. He hoʻāʻo koko kēia.
ʻO kekahi ala koʻikoʻi e ʻike ai i ka maʻi Krabbe ma o nā hoʻokolohua kiʻi. ʻOi aku ka maikaʻi, hiki i kahi scan MRI (Magnetic Resonance Imaging) ke ʻike i nā loli i ka lolo o ke keiki e hōʻike ana i ka maʻi Krabbe. He mea pono loa ka MRI i ka ʻike ʻana i nā ʻeha o ka lolo i ka maʻi Krabbe. Hiki i kēia mau hoʻokolohua ke kōkua i ka ʻike ʻana i ka maʻi i ka wā kamaliʻi a me ka wā makua.
Inā ua ʻike ʻia kāu keiki me ka maʻi Krabbe, e nānā i ka nui o ko lākou lohe a me ka ʻike.Pono paha kahi loiloi lohe a me kahi hoʻokolokolo maka. E kōkua kēia i ka hoʻoholo ʻana i ke ʻano o nā mea kōkua lohe a me nā mea kōkua ʻike e pono ai kāu keiki.
Inā ua ʻike ʻia kāu keiki me ka maʻi Krabbe, e ʻōlelo paha kāu kauka e hana ʻoe a me kāu hoa i ka ʻōlelo aʻoaʻo genetic a me ka hoʻāʻo ʻana e loiloi i kou pilikia o ka loaʻa ʻana o kahi keiki ʻē aʻe. Hiki iā lākou ke ʻōlelo aku e hoʻāʻo ʻia nā lālā ʻē aʻe o ka ʻohana e ʻike inā he mau mea lawe lākou i ka gene ʻano ʻē.
He aha ka lāʻau lapaʻau no ka maʻi Krabbe?
ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau mau loa no ka maʻi ʻo Krabbe. A, ʻo ka maʻamau, e pau ia i ka make.
Eia nō naʻe, aia kekahi lāʻau lapaʻau e hiki ai ke kāohi i ka hoʻonui ʻia ʻana o ka maʻi Krabbe: kahi hoʻoili cell stem hematopoietic (HSCT).
Hoʻololi kahi hoʻoili pūnaewele kumu i nā pūnaewele maikaʻi ʻole i loko o ke kino me nā pūnaewele olakino. ʻO nā pūnaewele kumu hematopoietic he mau pūnaewele ʻōpiopio e hiki ke ulu i nā ʻano pūnaewele koko āpau, me nā pūnaewele koko keʻokeʻo, nā pūnaewele koko ʻulaʻula, a me nā platelets.
Ma ka HSCT, hoʻoili ʻia nā hunaola koko mai kahi mea hāʻawi olakino i loko o kahi keiki me ka maʻi Krabbe. Kōkua kēia i ka hāʻawi ʻana i ke keiki i nā hunaola olakino a me ka hana enzyme GALC maikaʻi i loko o ka lolo. Eia nō naʻe, ʻoi aku ka maikaʻi o ka HSCT ke hāʻawi ʻia ma mua o ka ʻike ʻia ʻana o nā hōʻailona.
Ke hoʻomau nei nā kānaka noiʻi i ka hoʻāʻo ʻana e ʻimi i nā lāʻau lapaʻau maikaʻi aʻe no ka maʻi Krabbe. No ka mea, ʻaʻohe lāʻau lapaʻau i kēia manawa a ke ʻoi aku ka ʻino o ka maʻi i ka hala ʻana o ka manawa, ʻo ke ʻano nui o ka mālama ʻana he mālama kākoʻo . Hiki i kēia ke komo pū me:
- Nā mea hoʻomaha ʻiʻo no ka ʻeha ʻiʻo
- Nā lāʻau lapaʻau anticonvulsant e kāohi i nā hopu ʻana
- Hoʻoikaika Kino e Hoʻonui i ka Neʻe ʻana
- Ka Hoʻōla Hana no nā Keiki ʻElemakule a me nā Mākua
- Inā pilikia ka moni ʻana, e hānai ʻia me nā paipu
He aha ka wānana no ka maʻi Krabbe?
ʻAʻole maikaʻi ka wānana no ka maʻi Krabbe. Hoʻopau pinepine ia i ka make. Eia nō naʻe, ʻokoʻa ka manawa ola ma muli o ka makahiki e hoʻomaka ai nā hōʻailona.
ʻO ka awelika o ke ola no nā keiki me ka maʻi Krabbe i ka wā kamaliʻi ma kahi o 13 mau mahina. ʻO ka hapa nui o nā keiki me ka maʻi hoʻomaka hope e make i loko o ʻelua mau makahiki o ka hoʻomaka ʻana o nā hōʻailona.
ʻOkoʻa ka nui o ka holomua a me ke ola o ka maʻi Krabbe, ka mea e hoʻomaka ana i ka wā kamaliʻi a me ka wā makua.
ʻO ka maʻamau, hiki mai ka make mai ka maʻi Krabbe ma muli o ka hemahema o ka hanu i hoʻokumu ʻia e ka nāwaliwali o nā ʻiʻo a i ʻole ka maʻi i hoʻokumu ʻia e ka meaʻai/wai e komo ana i loko o nā māmā (aspiration).
Hiki ke pale ʻia ka maʻi Krabbe?
No ka mea, he maʻi hoʻoilina ka maʻi Krabbe, ʻaʻohe mea hiki iā mākou ke hana e pale aku ai.
Eia nō naʻe, inā ʻoe e hopohopo nei e pili ana i ka pilikia o ka hoʻoilina ʻana i ka maʻi Krabbe a i ʻole nā maʻi genetic ʻē aʻe ma mua o kou hoʻāʻo ʻana e loaʻa kahi keiki, e kamaʻilio me kahi mea mālama ola e pili ana i ka ʻōlelo aʻoaʻo genetic.
Āhea e pono ai i kaʻu keiki me ka maʻi Krabbe ke ʻike i ke kauka?
Pono kāu keiki e ʻike pinepine i kā lākou hui mālama ola e nānā i kā lākou mau hōʻailona, e nānā i ko lākou holomua, a hoʻoponopono i kā lākou hoʻolālā mālama kākoʻo e like me ka mea e pono ai. Inā loaʻa i kāu keiki kekahi mau hōʻailona hou, e hoʻomaopopo koke i kāu kauka.
He maʻi neurological laha ʻole ka maʻi Krabbe, he maʻi hoʻoilina. Hiki ke lilo i mea hoʻohoka a kaumaha hoʻi ke ʻike ʻana ua loaʻa i kāu keiki ka maʻi Krabbe. Akā e hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. Aia nā kumuwaiwai e kōkua a hoʻonaʻauao iā ʻoe a me kou ʻohana e pili ana i kēia. ʻO ka loaʻa ʻana o kahi hui lapaʻau i ʻike e pili ana i kēia maʻi he mea nui ia no ka hāʻawi ʻana i ka mālama maikaʻi loa no kāu keiki.
Hōʻuluʻulu Manaʻo (Leka Lawe-Home)
Eia kekahi mau mea maʻalahi e hoʻomanaʻo e pili ana i ka maʻi Krabbe:
- He maʻi laha ʻole ka maʻi Krabbe e hōʻino ana i ka ʻōnaehana nerve.
- Hoʻopau kēia i ka uhi pale i kapa ʻia ʻo myelin e hoʻopuni ana i nā hunaola nerve.
- ʻOkoʻa ke koʻikoʻi o ka maʻi a me ke ola o ka maʻi ma muli o ka makahiki e hoʻomaka ai nā hōʻailona (pēpē, keiki, pākeke). ʻOi aku ka koʻikoʻi i ka wā kamaliʻi.
- ʻAʻohe lāʻau lapaʻau i kēia manawa, akā aia nā lāʻau lapaʻau kākoʻo e kāohi i nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola. ʻO ka HSCT (hematopoietic stem cell transplant) ma mua o ka ʻike ʻia ʻana o nā hōʻailona hiki ke kāohi i ka ʻino o ka maʻi.
- He maʻi hoʻoilina kēia a ʻaʻole hiki ke pale ʻia. Eia nō naʻe, hiki i ke aʻo ʻana i nā hoʻoilina ke kōkua iā ʻoe e ʻike i kou pilikia.
- Inā loaʻa i kāu keiki kēia mau hōʻailona, he mea nui loa e ʻimi koke i ke kōkua lapaʻau.
Manaʻolana wau he mea kōkua kēia ʻike iā ʻoe. E hoʻomanaʻo, ʻoi aku ka maikaʻi o ka ʻimi ʻana i ka ʻōlelo aʻoaʻo lapaʻau kūpono no kekahi pilikia olakino.
ʻO ka maʻi Krabbe, Globoid Cell Leukodystrophy, Myelin, Demyelination, Nā maʻi genetic, Nā maʻi neurological, Nā maʻi pediatric
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